Links to Exploration step
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in <italic>ZBTB18</italic> and <italic>HNRNPU</italic></title><author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name><affiliation><nlm:aff id="Aff1">IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67400 Illkirch, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff2"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2177 138X</institution-id><institution-id institution-id-type="GRID">grid.412220.7</institution-id><institution>Laboratoires de Génétique, Institut de Génétique médicale d’Alsace,</institution><institution>Hôpitaux Universitaires de Strasbourg,</institution></institution-wrap>67000 Strasbourg, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff3"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2308 1657</institution-id><institution-id institution-id-type="GRID">grid.462844.8</institution-id><institution>INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM,</institution><institution>Sorbonne Universités,</institution></institution-wrap>UPMC Univ Paris 06 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 9058</institution-id><institution-id institution-id-type="GRID">grid.411439.a</institution-id><institution></institution><institution>AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique,</institution></institution-wrap>75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff55">EuroEPINOMICS RES consortium,<uri>http://www.euroepinomics.org/</uri></nlm:aff></affiliation></author><author><name sortKey="Nava, Caroline" sort="Nava, Caroline" uniqKey="Nava C" first="Caroline" last="Nava">Caroline Nava</name><affiliation><nlm:aff id="Aff3"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2308 1657</institution-id><institution-id institution-id-type="GRID">grid.462844.8</institution-id><institution>INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM,</institution><institution>Sorbonne Universités,</institution></institution-wrap>UPMC Univ Paris 06 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 9058</institution-id><institution-id institution-id-type="GRID">grid.411439.a</institution-id><institution></institution><institution>AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique,</institution></institution-wrap>75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff55">EuroEPINOMICS RES consortium,<uri>http://www.euroepinomics.org/</uri></nlm:aff></affiliation></author><author><name sortKey="Keren, Boris" sort="Keren, Boris" uniqKey="Keren B" first="Boris" last="Keren">Boris Keren</name><affiliation><nlm:aff id="Aff3"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2308 1657</institution-id><institution-id institution-id-type="GRID">grid.462844.8</institution-id><institution>INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM,</institution><institution>Sorbonne Universités,</institution></institution-wrap>UPMC Univ Paris 06 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 9058</institution-id><institution-id institution-id-type="GRID">grid.411439.a</institution-id><institution></institution><institution>AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique,</institution></institution-wrap>75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Heide, Solveig" sort="Heide, Solveig" uniqKey="Heide S" first="Solveig" last="Heide">Solveig Heide</name><affiliation><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 9058</institution-id><institution-id institution-id-type="GRID">grid.411439.a</institution-id><institution></institution><institution>AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique,</institution></institution-wrap>75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff5"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 9058</institution-id><institution-id institution-id-type="GRID">grid.411439.a</institution-id><institution></institution><institution>Groupe de Recherche Clinique (GRC) “déficience intellectuelle et autisme” UPMC, Groupe Hospitalier Pitié-Salpêtrière,</institution></institution-wrap>75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Rastetter, Agnes" sort="Rastetter, Agnes" uniqKey="Rastetter A" first="Agnès" last="Rastetter">Agnès Rastetter</name><affiliation><nlm:aff id="Aff3"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2308 1657</institution-id><institution-id institution-id-type="GRID">grid.462844.8</institution-id><institution>INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM,</institution><institution>Sorbonne Universités,</institution></institution-wrap>UPMC Univ Paris 06 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Passemard, Sandrine" sort="Passemard, Sandrine" uniqKey="Passemard S" first="Sandrine" last="Passemard">Sandrine Passemard</name><affiliation><nlm:aff id="Aff6"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0589</institution-id><institution-id institution-id-type="GRID">grid.413235.2</institution-id><institution></institution><institution>AP-HP, Department of Child Neurology, Hôpital Robert Debré,</institution></institution-wrap>Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff7"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0589</institution-id><institution-id institution-id-type="GRID">grid.413235.2</institution-id><institution></institution><institution>AP-HP, Department of Genetics, Hôpital Robert Debré,</institution></institution-wrap>Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff8">INSERM UMR U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Chantot Bastaraud, Sandra" sort="Chantot Bastaraud, Sandra" uniqKey="Chantot Bastaraud S" first="Sandra" last="Chantot-Bastaraud">Sandra Chantot-Bastaraud</name><affiliation><nlm:aff id="Aff9"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id><institution-id institution-id-type="GRID">grid.413776.0</institution-id><institution></institution><institution>AP-HP, Département de Génétique Médicale, Unité fonctionnelle de Génétique Chromosomique, CHU Paris Est, Hôpital d’Enfants Armand-Trousseau,</institution></institution-wrap>75571 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Moutard, Marie Laure" sort="Moutard, Marie Laure" uniqKey="Moutard M" first="Marie-Laure" last="Moutard">Marie-Laure Moutard</name><affiliation><nlm:aff id="Aff10"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id><institution-id institution-id-type="GRID">grid.413776.0</institution-id><institution></institution><institution>AP-HP, Service de Neuropédiatrie, Hôpital Trousseau,</institution></institution-wrap>75012 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff11"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2308 1657</institution-id><institution-id institution-id-type="GRID">grid.462844.8</institution-id><institution>UPMC, GRC ConCer-LD,</institution><institution>Sorbonne Université,</institution></institution-wrap>Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff12">Centre de Référence des Maladies Neurogénétiques de l’Enfant et de l’Adolescent, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Agrawal, Pankaj B" sort="Agrawal, Pankaj B" uniqKey="Agrawal P" first="Pankaj B." last="Agrawal">Pankaj B. Agrawal</name><affiliation><nlm:aff id="Aff13"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0378 8438</institution-id><institution-id institution-id-type="GRID">grid.2515.3</institution-id><institution>Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research,</institution><institution>Boston Children’s Hospital and Harvard Medical School,</institution></institution-wrap>Boston, MA 02115 USA</nlm:aff></affiliation></author><author><name sortKey="Vannoy, Grace" sort="Vannoy, Grace" uniqKey="Vannoy G" first="Grace" last="Vannoy">Grace Vannoy</name><affiliation><nlm:aff id="Aff13"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0378 8438</institution-id><institution-id institution-id-type="GRID">grid.2515.3</institution-id><institution>Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research,</institution><institution>Boston Children’s Hospital and Harvard Medical School,</institution></institution-wrap>Boston, MA 02115 USA</nlm:aff></affiliation></author><author><name sortKey="Stoler, Joan M" sort="Stoler, Joan M" uniqKey="Stoler J" first="Joan M." last="Stoler">Joan M. Stoler</name><affiliation><nlm:aff id="Aff13"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0378 8438</institution-id><institution-id institution-id-type="GRID">grid.2515.3</institution-id><institution>Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research,</institution><institution>Boston Children’s Hospital and Harvard Medical School,</institution></institution-wrap>Boston, MA 02115 USA</nlm:aff></affiliation></author><author><name sortKey="Amor, David J" sort="Amor, David J" uniqKey="Amor D" first="David J." last="Amor">David J. Amor</name><affiliation><nlm:aff id="Aff14"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0614 0346</institution-id><institution-id institution-id-type="GRID">grid.416107.5</institution-id><institution>Murdoch Childrens Research Institute,</institution><institution>Royal Children’s Hospital,</institution></institution-wrap>Parkville, VIC 3052 Australia</nlm:aff></affiliation><affiliation><nlm:aff id="Aff15"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2179 088X</institution-id><institution-id institution-id-type="GRID">grid.1008.9</institution-id><institution>Department of Paediatrics,</institution><institution>University of Melbourne,</institution></institution-wrap>Parkville, VIC 3052 Australia</nlm:aff></affiliation></author><author><name sortKey="Billette De Villemeur, Thierry" sort="Billette De Villemeur, Thierry" uniqKey="Billette De Villemeur T" first="Thierry" last="Billette De Villemeur">Thierry Billette De Villemeur</name><affiliation><nlm:aff id="Aff8">INSERM UMR U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff10"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id><institution-id institution-id-type="GRID">grid.413776.0</institution-id><institution></institution><institution>AP-HP, Service de Neuropédiatrie, Hôpital Trousseau,</institution></institution-wrap>75012 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff11"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2308 1657</institution-id><institution-id institution-id-type="GRID">grid.462844.8</institution-id><institution>UPMC, GRC ConCer-LD,</institution><institution>Sorbonne Université,</institution></institution-wrap>Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff16">Centre de Référence “déficiences intellectuelles de causes rares”, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Doummar, Diane" sort="Doummar, Diane" uniqKey="Doummar D" first="Diane" last="Doummar">Diane Doummar</name><affiliation><nlm:aff id="Aff10"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id><institution-id institution-id-type="GRID">grid.413776.0</institution-id><institution></institution><institution>AP-HP, Service de Neuropédiatrie, Hôpital Trousseau,</institution></institution-wrap>75012 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff12">Centre de Référence des Maladies Neurogénétiques de l’Enfant et de l’Adolescent, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Alby, Caroline" sort="Alby, Caroline" uniqKey="Alby C" first="Caroline" last="Alby">Caroline Alby</name><affiliation><nlm:aff id="Aff17"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2188 0914</institution-id><institution-id institution-id-type="GRID">grid.10992.33</institution-id><institution>INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations,</institution><institution>Sorbonne Paris Cité and Imagine Institute, Paris Descartes University,</institution></institution-wrap>75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff19"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0593 9113</institution-id><institution-id institution-id-type="GRID">grid.412134.1</institution-id><institution></institution><institution>AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades,</institution></institution-wrap>75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><affiliation><nlm:aff id="Aff18"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2188 0914</institution-id><institution-id institution-id-type="GRID">grid.10992.33</institution-id><institution>INSERM U1163, Laboratory of Molecular and Physiopathological bases of osteochondrodysplasia, Sorbonne Paris Cité and Imagine Institute,</institution><institution>Paris Descartes University,</institution></institution-wrap>75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff19"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0593 9113</institution-id><institution-id institution-id-type="GRID">grid.412134.1</institution-id><institution></institution><institution>AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades,</institution></institution-wrap>75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Garel, Catherine" sort="Garel, Catherine" uniqKey="Garel C" first="Catherine" last="Garel">Catherine Garel</name><affiliation><nlm:aff id="Aff20"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id><institution-id institution-id-type="GRID">grid.413776.0</institution-id><institution></institution><institution>AP-HP, GHUEP, Service de Radiologie, Hôpital Armand-Trousseau,</institution></institution-wrap>75012 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Marzin, Pauline" sort="Marzin, Pauline" uniqKey="Marzin P" first="Pauline" last="Marzin">Pauline Marzin</name><affiliation><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 9058</institution-id><institution-id institution-id-type="GRID">grid.411439.a</institution-id><institution></institution><institution>AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique,</institution></institution-wrap>75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Scheidecker, Sophie" sort="Scheidecker, Sophie" uniqKey="Scheidecker S" first="Sophie" last="Scheidecker">Sophie Scheidecker</name><affiliation><nlm:aff id="Aff2"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2177 138X</institution-id><institution-id institution-id-type="GRID">grid.412220.7</institution-id><institution>Laboratoires de Génétique, Institut de Génétique médicale d’Alsace,</institution><institution>Hôpitaux Universitaires de Strasbourg,</institution></institution-wrap>67000 Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="De Saint Martin, Anne" sort="De Saint Martin, Anne" uniqKey="De Saint Martin A" first="Anne" last="De Saint-Martin">Anne De Saint-Martin</name><affiliation><nlm:aff id="Aff1">IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67400 Illkirch, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff21"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2177 138X</institution-id><institution-id institution-id-type="GRID">grid.412220.7</institution-id><institution>Pediatric Neurology Department, Hautepierre Hospital,</institution><institution>Strasbourg University Hospital,</institution></institution-wrap>Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Hirsch, Edouard" sort="Hirsch, Edouard" uniqKey="Hirsch E" first="Edouard" last="Hirsch">Edouard Hirsch</name><affiliation><nlm:aff id="Aff1">IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67400 Illkirch, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff22"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2177 138X</institution-id><institution-id institution-id-type="GRID">grid.412220.7</institution-id><institution>Medical and Surgical Epilepsy Unit, Hautepierre Hospital,</institution><institution>Strasbourg University Hospital,</institution></institution-wrap>Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Korff, Christian" sort="Korff, Christian" uniqKey="Korff C" first="Christian" last="Korff">Christian Korff</name><affiliation><nlm:aff id="Aff23"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0721 9812</institution-id><institution-id institution-id-type="GRID">grid.150338.c</institution-id><institution>Département de l’Enfant et de l’Adolescent, Neuropédiatrie,</institution><institution>Hôpitaux Universitaires de Genève,</institution></institution-wrap>Geneva, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Bottani, Armand" sort="Bottani, Armand" uniqKey="Bottani A" first="Armand" last="Bottani">Armand Bottani</name><affiliation><nlm:aff id="Aff24"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0721 9812</institution-id><institution-id institution-id-type="GRID">grid.150338.c</institution-id><institution>Service de Médecine génétique,</institution><institution>Hôpitaux Universitaires de Genève,</institution></institution-wrap>Geneva, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation><nlm:aff id="Aff25"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2298 9313</institution-id><institution-id institution-id-type="GRID">grid.5613.1</institution-id><institution>Equipe d’Accueil 4271, Génétique des Anomalies du Développement,</institution><institution>Université de Bourgogne,</institution></institution-wrap>21079 Dijon, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff26"><institution-wrap><institution-id institution-id-type="GRID">grid.31151.37</institution-id><institution>Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l’Interrégion Est,</institution><institution>Centre Hospitalier Universitaire Dijon,</institution></institution-wrap>21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name><affiliation><nlm:aff id="Aff7"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0589</institution-id><institution-id institution-id-type="GRID">grid.413235.2</institution-id><institution></institution><institution>AP-HP, Department of Genetics, Hôpital Robert Debré,</institution></institution-wrap>Paris, France</nlm:aff></affiliation></author><author><name sortKey="Orzechowski, Christine" sort="Orzechowski, Christine" uniqKey="Orzechowski C" first="Christine" last="Orzechowski">Christine Orzechowski</name><affiliation><nlm:aff id="Aff27">Service de Pédiatrie, Hôpital Saint-Camille Bry-sur-Marne, Le Chesnay, France</nlm:aff></affiliation></author><author><name sortKey="Burglen, Lydie" sort="Burglen, Lydie" uniqKey="Burglen L" first="Lydie" last="Burglen">Lydie Burglen</name><affiliation><nlm:aff id="Aff8">INSERM UMR U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff28"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id><institution-id institution-id-type="GRID">grid.413776.0</institution-id><institution>AP-HP, Service de Génétique,</institution><institution>Hôpital Trousseau,</institution></institution-wrap>75012 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff29"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id><institution-id institution-id-type="GRID">grid.413776.0</institution-id><institution>Centre de Référence des Malformations et Maladies Congénitales du Cervelet,</institution><institution>Hôpital Trousseau,</institution></institution-wrap>75012 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Leheup, Bruno" sort="Leheup, Bruno" uniqKey="Leheup B" first="Bruno" last="Leheup">Bruno Leheup</name><affiliation><nlm:aff id="Aff30"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1765 1301</institution-id><institution-id institution-id-type="GRID">grid.410527.5</institution-id><institution></institution><institution>Service de génétique clinique, Hôpital de Brabois, CHU de Nancy,</institution></institution-wrap>Nancy, France</nlm:aff></affiliation></author><author><name sortKey="Roume, Joelle" sort="Roume, Joelle" uniqKey="Roume J" first="Joelle" last="Roume">Joelle Roume</name><affiliation><nlm:aff id="Aff31">Department of Genetics, Poissy-Saint-Germain-en-Laye Hospital, Poissy, France</nlm:aff></affiliation></author><author><name sortKey="Andrieux, Joris" sort="Andrieux, Joris" uniqKey="Andrieux J" first="Joris" last="Andrieux">Joris Andrieux</name><affiliation><nlm:aff id="Aff32"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0471 8845</institution-id><institution-id institution-id-type="GRID">grid.410463.4</institution-id><institution>Institut de Génétique Médicale,</institution><institution>CHRU de Lille,</institution></institution-wrap>Lille, France</nlm:aff></affiliation></author><author><name sortKey="Sheth, Frenny" sort="Sheth, Frenny" uniqKey="Sheth F" first="Frenny" last="Sheth">Frenny Sheth</name><affiliation><nlm:aff id="Aff33">Department of Cytogenetics and Molecular Cytogenetics, FRIGE’s Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India</nlm:aff></affiliation></author><author><name sortKey="Datar, Chaitanya" sort="Datar, Chaitanya" uniqKey="Datar C" first="Chaitanya" last="Datar">Chaitanya Datar</name><affiliation><nlm:aff id="Aff34">Sahyadari Medical Genetics and Tissue engineering facility (SMGTEF), Pune, 411005 India</nlm:aff></affiliation></author><author><name sortKey="Parker, Michael J" sort="Parker, Michael J" uniqKey="Parker M" first="Michael J." last="Parker">Michael J. Parker</name><affiliation><nlm:aff id="Aff35"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0641 5987</institution-id><institution-id institution-id-type="GRID">grid.412937.a</institution-id><institution>Sheffield Clinical Genetics Service, OPD2,</institution><institution>Northern General Hospital,</institution></institution-wrap>Herries Road, Sheffield, S5 7AU UK</nlm:aff></affiliation></author><author><name sortKey="Pasquier, Laurent" sort="Pasquier, Laurent" uniqKey="Pasquier L" first="Laurent" last="Pasquier">Laurent Pasquier</name><affiliation><nlm:aff id="Aff36"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2175 0984</institution-id><institution-id institution-id-type="GRID">grid.411154.4</institution-id><institution>Service de Génétique Clinique,</institution><institution>CHU de Rennes,</institution></institution-wrap>Rennes, France</nlm:aff></affiliation></author><author><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name><affiliation><nlm:aff id="Aff36"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2175 0984</institution-id><institution-id institution-id-type="GRID">grid.411154.4</institution-id><institution>Service de Génétique Clinique,</institution><institution>CHU de Rennes,</institution></institution-wrap>Rennes, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff37"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2175 0984</institution-id><institution-id institution-id-type="GRID">grid.411154.4</institution-id><institution>Centre de référence CLAD-Ouest,</institution><institution>CHU Rennes,</institution></institution-wrap>Rennes, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff38"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2191 9284</institution-id><institution-id institution-id-type="GRID">grid.410368.8</institution-id><institution>UMR 6290 CNRS, IGDR Institut de Génétique et développement de Rennes,</institution><institution>Université de Rennes 1,</institution></institution-wrap>Rennes, France</nlm:aff></affiliation></author><author><name sortKey="Naudion, Sophie" sort="Naudion, Sophie" uniqKey="Naudion S" first="Sophie" last="Naudion">Sophie Naudion</name><affiliation><nlm:aff id="Aff39"><institution-wrap><institution-id institution-id-type="GRID">grid.414263.6</institution-id><institution>Service de Génétique Médicale,</institution><institution>Hôpital Pellegrin, CHU Bordeaux,</institution></institution-wrap>Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Delrue, Marie Ange" sort="Delrue, Marie Ange" uniqKey="Delrue M" first="Marie-Ange" last="Delrue">Marie-Ange Delrue</name><affiliation><nlm:aff id="Aff39"><institution-wrap><institution-id institution-id-type="GRID">grid.414263.6</institution-id><institution>Service de Génétique Médicale,</institution><institution>Hôpital Pellegrin, CHU Bordeaux,</institution></institution-wrap>Bordeaux, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff40"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0593 7118</institution-id><institution-id institution-id-type="GRID">grid.42399.35</institution-id><institution>Centre de Référence des Anomalies du Développement Embryonnaire,</institution><institution>CHU Bordeaux,</institution></institution-wrap>Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cédric" last="Le Caignec">Cédric Le Caignec</name><affiliation><nlm:aff id="Aff41"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0472 0371</institution-id><institution-id institution-id-type="GRID">grid.277151.7</institution-id><institution></institution><institution>Service de Génétique Médicale, CHU de Nantes,</institution></institution-wrap>Nantes, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff42">Faculté de Médecine, INSERM, UMR 957, Physiopathologie de la résorption osseuse et des tumeurs osseuses primitives, Université, Nantes, France</nlm:aff></affiliation></author><author><name sortKey="Vincent, Marie" sort="Vincent, Marie" uniqKey="Vincent M" first="Marie" last="Vincent">Marie Vincent</name><affiliation><nlm:aff id="Aff41"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0472 0371</institution-id><institution-id institution-id-type="GRID">grid.277151.7</institution-id><institution></institution><institution>Service de Génétique Médicale, CHU de Nantes,</institution></institution-wrap>Nantes, France</nlm:aff></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation><nlm:aff id="Aff41"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0472 0371</institution-id><institution-id institution-id-type="GRID">grid.277151.7</institution-id><institution></institution><institution>Service de Génétique Médicale, CHU de Nantes,</institution></institution-wrap>Nantes, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff42">Faculté de Médecine, INSERM, UMR 957, Physiopathologie de la résorption osseuse et des tumeurs osseuses primitives, Université, Nantes, France</nlm:aff></affiliation></author><author><name sortKey="Renaldo, Florence" sort="Renaldo, Florence" uniqKey="Renaldo F" first="Florence" last="Renaldo">Florence Renaldo</name><affiliation><nlm:aff id="Aff6"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0589</institution-id><institution-id institution-id-type="GRID">grid.413235.2</institution-id><institution></institution><institution>AP-HP, Department of Child Neurology, Hôpital Robert Debré,</institution></institution-wrap>Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff10"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id><institution-id institution-id-type="GRID">grid.413776.0</institution-id><institution></institution><institution>AP-HP, Service de Neuropédiatrie, Hôpital Trousseau,</institution></institution-wrap>75012 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Stewart, Fiona" sort="Stewart, Fiona" uniqKey="Stewart F" first="Fiona" last="Stewart">Fiona Stewart</name><affiliation><nlm:aff id="Aff43">Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Ireland</nlm:aff></affiliation></author><author><name sortKey="Toutain, Annick" sort="Toutain, Annick" uniqKey="Toutain A" first="Annick" last="Toutain">Annick Toutain</name><affiliation><nlm:aff id="Aff44"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1765 1600</institution-id><institution-id institution-id-type="GRID">grid.411167.4</institution-id><institution>Service de Génétique Médicale,</institution><institution>CHU Tours,</institution></institution-wrap>Tours, France</nlm:aff></affiliation></author><author><name sortKey="Koehler, Udo" sort="Koehler, Udo" uniqKey="Koehler U" first="Udo" last="Koehler">Udo Koehler</name><affiliation><nlm:aff id="Aff45">Medizinisch Genetisches Zentrum, 80335 Munich, Germany</nlm:aff></affiliation></author><author><name sortKey="H Ckl, Birgit" sort="H Ckl, Birgit" uniqKey="H Ckl B" first="Birgit" last="H Ckl">Birgit H Ckl</name><affiliation><nlm:aff id="Aff46">Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569 Vogtareuth, Germany</nlm:aff></affiliation></author><author><name sortKey="Von Stulpnagel, Celina" sort="Von Stulpnagel, Celina" uniqKey="Von Stulpnagel C" first="Celina" last="Von Stülpnagel">Celina Von Stülpnagel</name><affiliation><nlm:aff id="Aff46">Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569 Vogtareuth, Germany</nlm:aff></affiliation></author><author><name sortKey="Kluger, Gerhard" sort="Kluger, Gerhard" uniqKey="Kluger G" first="Gerhard" last="Kluger">Gerhard Kluger</name><affiliation><nlm:aff id="Aff46">Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569 Vogtareuth, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="Aff47">PMU Salzburg, Salzburg, Austria</nlm:aff></affiliation></author><author><name sortKey="M Ller, Rikke S" sort="M Ller, Rikke S" uniqKey="M Ller R" first="Rikke S." last="M Ller">Rikke S. M Ller</name><affiliation><nlm:aff id="Aff48"><institution-wrap><institution-id institution-id-type="GRID">grid.452376.1</institution-id><institution></institution><institution>The Danish Epilepsy Centre,</institution></institution-wrap>Dianalund, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="Aff49"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0728 0170</institution-id><institution-id institution-id-type="GRID">grid.10825.3e</institution-id><institution>Institute for Regional Health Services,</institution><institution>University of Southern Denmark,</institution></institution-wrap>Odense, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="Aff55">EuroEPINOMICS RES consortium,<uri>http://www.euroepinomics.org/</uri></nlm:aff></affiliation></author><author><name sortKey="Pal, Deb" sort="Pal, Deb" uniqKey="Pal D" first="Deb" last="Pal">Deb Pal</name><affiliation><nlm:aff id="Aff50"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2322 6764</institution-id><institution-id institution-id-type="GRID">grid.13097.3c</institution-id><institution>Department of Clinical Neuroscience, Institute of Psychiatry,</institution><institution>King’s College London,</institution></institution-wrap>London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="Aff55">EuroEPINOMICS RES consortium,<uri>http://www.euroepinomics.org/</uri></nlm:aff></affiliation></author><author><name sortKey="Jonson, Tord" sort="Jonson, Tord" uniqKey="Jonson T" first="Tord" last="Jonson">Tord Jonson</name><affiliation><nlm:aff id="Aff51"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0930 2361</institution-id><institution-id institution-id-type="GRID">grid.4514.4</institution-id><institution>Department of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital,</institution><institution>Lund University,</institution></institution-wrap>Lund, Sweden</nlm:aff></affiliation></author><author><name sortKey="Soller, Maria" sort="Soller, Maria" uniqKey="Soller M" first="Maria" last="Soller">Maria Soller</name><affiliation><nlm:aff id="Aff52"><institution-wrap><institution-id institution-id-type="GRID">grid.411843.b</institution-id><institution>Department of Clinical Genetics,</institution><institution>Lund University Hospital,</institution></institution-wrap>221 85 Lund, Sweden</nlm:aff></affiliation></author><author><name sortKey="Verbeek, Nienke E" sort="Verbeek, Nienke E" uniqKey="Verbeek N" first="Nienke E." last="Verbeek">Nienke E. Verbeek</name><affiliation><nlm:aff id="Aff53"><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Department of Genetics,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, 3584 CX The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Haelst, Mieke M" sort="Van Haelst, Mieke M" uniqKey="Van Haelst M" first="Mieke M." last="Van Haelst">Mieke M. Van Haelst</name><affiliation><nlm:aff id="Aff53"><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Department of Genetics,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, 3584 CX The Netherlands</nlm:aff></affiliation></author><author><name sortKey="De Kovel, Carolien" sort="De Kovel, Carolien" uniqKey="De Kovel C" first="Carolien" last="De Kovel">Carolien De Kovel</name><affiliation><nlm:aff id="Aff53"><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Department of Genetics,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, 3584 CX The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Koeleman, Bobby" sort="Koeleman, Bobby" uniqKey="Koeleman B" first="Bobby" last="Koeleman">Bobby Koeleman</name><affiliation><nlm:aff id="Aff53"><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Department of Genetics,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, 3584 CX The Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="Aff54"><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Center for Molecular Medicine,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, 3584 CX The Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="Aff55">EuroEPINOMICS RES consortium,<uri>http://www.euroepinomics.org/</uri></nlm:aff></affiliation></author><author><name sortKey="Monroe, Glen" sort="Monroe, Glen" uniqKey="Monroe G" first="Glen" last="Monroe">Glen Monroe</name><affiliation><nlm:aff id="Aff53"><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Department of Genetics,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, 3584 CX The Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="Aff54"><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Center for Molecular Medicine,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, 3584 CX The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Haaften, Gijs" sort="Van Haaften, Gijs" uniqKey="Van Haaften G" first="Gijs" last="Van Haaften">Gijs Van Haaften</name><affiliation><nlm:aff id="Aff53"><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Department of Genetics,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, 3584 CX The Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="Aff54"><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Center for Molecular Medicine,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, 3584 CX The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Attie Bitach, Tania" sort="Attie Bitach, Tania" uniqKey="Attie Bitach T" first="Tania" last="Attié-Bitach">Tania Attié-Bitach</name><affiliation><nlm:aff id="Aff17"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2188 0914</institution-id><institution-id institution-id-type="GRID">grid.10992.33</institution-id><institution>INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations,</institution><institution>Sorbonne Paris Cité and Imagine Institute, Paris Descartes University,</institution></institution-wrap>75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff19"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0593 9113</institution-id><institution-id institution-id-type="GRID">grid.412134.1</institution-id><institution></institution><institution>AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades,</institution></institution-wrap>75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Boutaud, Lucile" sort="Boutaud, Lucile" uniqKey="Boutaud L" first="Lucile" last="Boutaud">Lucile Boutaud</name><affiliation><nlm:aff id="Aff17"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2188 0914</institution-id><institution-id institution-id-type="GRID">grid.10992.33</institution-id><institution>INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations,</institution><institution>Sorbonne Paris Cité and Imagine Institute, Paris Descartes University,</institution></institution-wrap>75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff19"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0593 9113</institution-id><institution-id institution-id-type="GRID">grid.412134.1</institution-id><institution></institution><institution>AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades,</institution></institution-wrap>75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Heron, Delphine" sort="Heron, Delphine" uniqKey="Heron D" first="Delphine" last="Héron">Delphine Héron</name><affiliation><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 9058</institution-id><institution-id institution-id-type="GRID">grid.411439.a</institution-id><institution></institution><institution>AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique,</institution></institution-wrap>75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff5"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 9058</institution-id><institution-id institution-id-type="GRID">grid.411439.a</institution-id><institution></institution><institution>Groupe de Recherche Clinique (GRC) “déficience intellectuelle et autisme” UPMC, Groupe Hospitalier Pitié-Salpêtrière,</institution></institution-wrap>75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff16">Centre de Référence “déficiences intellectuelles de causes rares”, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><affiliation><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 9058</institution-id><institution-id institution-id-type="GRID">grid.411439.a</institution-id><institution></institution><institution>AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique,</institution></institution-wrap>75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff5"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 9058</institution-id><institution-id institution-id-type="GRID">grid.411439.a</institution-id><institution></institution><institution>Groupe de Recherche Clinique (GRC) “déficience intellectuelle et autisme” UPMC, Groupe Hospitalier Pitié-Salpêtrière,</institution></institution-wrap>75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff16">Centre de Référence “déficiences intellectuelles de causes rares”, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff55">EuroEPINOMICS RES consortium,<uri>http://www.euroepinomics.org/</uri></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">28283832</idno><idno type="pmc">5360844</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5360844</idno><idno type="RBID">PMC:5360844</idno><idno type="doi">10.1007/s00439-017-1772-0</idno><date when="2017">2017</date><idno type="wicri:Area/Pmc/Corpus">000D30</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000D30</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in <italic>ZBTB18</italic> and <italic>HNRNPU</italic></title><author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name><affiliation><nlm:aff id="Aff1">IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67400 Illkirch, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff2"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2177 138X</institution-id><institution-id institution-id-type="GRID">grid.412220.7</institution-id><institution>Laboratoires de Génétique, Institut de Génétique médicale d’Alsace,</institution><institution>Hôpitaux Universitaires de Strasbourg,</institution></institution-wrap>67000 Strasbourg, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff3"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2308 1657</institution-id><institution-id institution-id-type="GRID">grid.462844.8</institution-id><institution>INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM,</institution><institution>Sorbonne Universités,</institution></institution-wrap>UPMC Univ Paris 06 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 9058</institution-id><institution-id institution-id-type="GRID">grid.411439.a</institution-id><institution></institution><institution>AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique,</institution></institution-wrap>75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff55">EuroEPINOMICS RES consortium,<uri>http://www.euroepinomics.org/</uri></nlm:aff></affiliation></author><author><name sortKey="Nava, Caroline" sort="Nava, Caroline" uniqKey="Nava C" first="Caroline" last="Nava">Caroline Nava</name><affiliation><nlm:aff id="Aff3"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2308 1657</institution-id><institution-id institution-id-type="GRID">grid.462844.8</institution-id><institution>INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM,</institution><institution>Sorbonne Universités,</institution></institution-wrap>UPMC Univ Paris 06 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 9058</institution-id><institution-id institution-id-type="GRID">grid.411439.a</institution-id><institution></institution><institution>AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique,</institution></institution-wrap>75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff55">EuroEPINOMICS RES consortium,<uri>http://www.euroepinomics.org/</uri></nlm:aff></affiliation></author><author><name sortKey="Keren, Boris" sort="Keren, Boris" uniqKey="Keren B" first="Boris" last="Keren">Boris Keren</name><affiliation><nlm:aff id="Aff3"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2308 1657</institution-id><institution-id institution-id-type="GRID">grid.462844.8</institution-id><institution>INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM,</institution><institution>Sorbonne Universités,</institution></institution-wrap>UPMC Univ Paris 06 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 9058</institution-id><institution-id institution-id-type="GRID">grid.411439.a</institution-id><institution></institution><institution>AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique,</institution></institution-wrap>75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Heide, Solveig" sort="Heide, Solveig" uniqKey="Heide S" first="Solveig" last="Heide">Solveig Heide</name><affiliation><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 9058</institution-id><institution-id institution-id-type="GRID">grid.411439.a</institution-id><institution></institution><institution>AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique,</institution></institution-wrap>75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff5"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 9058</institution-id><institution-id institution-id-type="GRID">grid.411439.a</institution-id><institution></institution><institution>Groupe de Recherche Clinique (GRC) “déficience intellectuelle et autisme” UPMC, Groupe Hospitalier Pitié-Salpêtrière,</institution></institution-wrap>75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Rastetter, Agnes" sort="Rastetter, Agnes" uniqKey="Rastetter A" first="Agnès" last="Rastetter">Agnès Rastetter</name><affiliation><nlm:aff id="Aff3"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2308 1657</institution-id><institution-id institution-id-type="GRID">grid.462844.8</institution-id><institution>INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM,</institution><institution>Sorbonne Universités,</institution></institution-wrap>UPMC Univ Paris 06 UMR S 1127, 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Passemard, Sandrine" sort="Passemard, Sandrine" uniqKey="Passemard S" first="Sandrine" last="Passemard">Sandrine Passemard</name><affiliation><nlm:aff id="Aff6"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0589</institution-id><institution-id institution-id-type="GRID">grid.413235.2</institution-id><institution></institution><institution>AP-HP, Department of Child Neurology, Hôpital Robert Debré,</institution></institution-wrap>Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff7"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0589</institution-id><institution-id institution-id-type="GRID">grid.413235.2</institution-id><institution></institution><institution>AP-HP, Department of Genetics, Hôpital Robert Debré,</institution></institution-wrap>Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff8">INSERM UMR U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Chantot Bastaraud, Sandra" sort="Chantot Bastaraud, Sandra" uniqKey="Chantot Bastaraud S" first="Sandra" last="Chantot-Bastaraud">Sandra Chantot-Bastaraud</name><affiliation><nlm:aff id="Aff9"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id><institution-id institution-id-type="GRID">grid.413776.0</institution-id><institution></institution><institution>AP-HP, Département de Génétique Médicale, Unité fonctionnelle de Génétique Chromosomique, CHU Paris Est, Hôpital d’Enfants Armand-Trousseau,</institution></institution-wrap>75571 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Moutard, Marie Laure" sort="Moutard, Marie Laure" uniqKey="Moutard M" first="Marie-Laure" last="Moutard">Marie-Laure Moutard</name><affiliation><nlm:aff id="Aff10"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id><institution-id institution-id-type="GRID">grid.413776.0</institution-id><institution></institution><institution>AP-HP, Service de Neuropédiatrie, Hôpital Trousseau,</institution></institution-wrap>75012 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff11"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2308 1657</institution-id><institution-id institution-id-type="GRID">grid.462844.8</institution-id><institution>UPMC, GRC ConCer-LD,</institution><institution>Sorbonne Université,</institution></institution-wrap>Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff12">Centre de Référence des Maladies Neurogénétiques de l’Enfant et de l’Adolescent, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Agrawal, Pankaj B" sort="Agrawal, Pankaj B" uniqKey="Agrawal P" first="Pankaj B." last="Agrawal">Pankaj B. Agrawal</name><affiliation><nlm:aff id="Aff13"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0378 8438</institution-id><institution-id institution-id-type="GRID">grid.2515.3</institution-id><institution>Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research,</institution><institution>Boston Children’s Hospital and Harvard Medical School,</institution></institution-wrap>Boston, MA 02115 USA</nlm:aff></affiliation></author><author><name sortKey="Vannoy, Grace" sort="Vannoy, Grace" uniqKey="Vannoy G" first="Grace" last="Vannoy">Grace Vannoy</name><affiliation><nlm:aff id="Aff13"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0378 8438</institution-id><institution-id institution-id-type="GRID">grid.2515.3</institution-id><institution>Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research,</institution><institution>Boston Children’s Hospital and Harvard Medical School,</institution></institution-wrap>Boston, MA 02115 USA</nlm:aff></affiliation></author><author><name sortKey="Stoler, Joan M" sort="Stoler, Joan M" uniqKey="Stoler J" first="Joan M." last="Stoler">Joan M. Stoler</name><affiliation><nlm:aff id="Aff13"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0378 8438</institution-id><institution-id institution-id-type="GRID">grid.2515.3</institution-id><institution>Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research,</institution><institution>Boston Children’s Hospital and Harvard Medical School,</institution></institution-wrap>Boston, MA 02115 USA</nlm:aff></affiliation></author><author><name sortKey="Amor, David J" sort="Amor, David J" uniqKey="Amor D" first="David J." last="Amor">David J. Amor</name><affiliation><nlm:aff id="Aff14"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0614 0346</institution-id><institution-id institution-id-type="GRID">grid.416107.5</institution-id><institution>Murdoch Childrens Research Institute,</institution><institution>Royal Children’s Hospital,</institution></institution-wrap>Parkville, VIC 3052 Australia</nlm:aff></affiliation><affiliation><nlm:aff id="Aff15"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2179 088X</institution-id><institution-id institution-id-type="GRID">grid.1008.9</institution-id><institution>Department of Paediatrics,</institution><institution>University of Melbourne,</institution></institution-wrap>Parkville, VIC 3052 Australia</nlm:aff></affiliation></author><author><name sortKey="Billette De Villemeur, Thierry" sort="Billette De Villemeur, Thierry" uniqKey="Billette De Villemeur T" first="Thierry" last="Billette De Villemeur">Thierry Billette De Villemeur</name><affiliation><nlm:aff id="Aff8">INSERM UMR U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff10"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id><institution-id institution-id-type="GRID">grid.413776.0</institution-id><institution></institution><institution>AP-HP, Service de Neuropédiatrie, Hôpital Trousseau,</institution></institution-wrap>75012 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff11"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2308 1657</institution-id><institution-id institution-id-type="GRID">grid.462844.8</institution-id><institution>UPMC, GRC ConCer-LD,</institution><institution>Sorbonne Université,</institution></institution-wrap>Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff16">Centre de Référence “déficiences intellectuelles de causes rares”, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Doummar, Diane" sort="Doummar, Diane" uniqKey="Doummar D" first="Diane" last="Doummar">Diane Doummar</name><affiliation><nlm:aff id="Aff10"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id><institution-id institution-id-type="GRID">grid.413776.0</institution-id><institution></institution><institution>AP-HP, Service de Neuropédiatrie, Hôpital Trousseau,</institution></institution-wrap>75012 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff12">Centre de Référence des Maladies Neurogénétiques de l’Enfant et de l’Adolescent, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Alby, Caroline" sort="Alby, Caroline" uniqKey="Alby C" first="Caroline" last="Alby">Caroline Alby</name><affiliation><nlm:aff id="Aff17"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2188 0914</institution-id><institution-id institution-id-type="GRID">grid.10992.33</institution-id><institution>INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations,</institution><institution>Sorbonne Paris Cité and Imagine Institute, Paris Descartes University,</institution></institution-wrap>75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff19"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0593 9113</institution-id><institution-id institution-id-type="GRID">grid.412134.1</institution-id><institution></institution><institution>AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades,</institution></institution-wrap>75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><affiliation><nlm:aff id="Aff18"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2188 0914</institution-id><institution-id institution-id-type="GRID">grid.10992.33</institution-id><institution>INSERM U1163, Laboratory of Molecular and Physiopathological bases of osteochondrodysplasia, Sorbonne Paris Cité and Imagine Institute,</institution><institution>Paris Descartes University,</institution></institution-wrap>75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff19"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0593 9113</institution-id><institution-id institution-id-type="GRID">grid.412134.1</institution-id><institution></institution><institution>AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades,</institution></institution-wrap>75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Garel, Catherine" sort="Garel, Catherine" uniqKey="Garel C" first="Catherine" last="Garel">Catherine Garel</name><affiliation><nlm:aff id="Aff20"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id><institution-id institution-id-type="GRID">grid.413776.0</institution-id><institution></institution><institution>AP-HP, GHUEP, Service de Radiologie, Hôpital Armand-Trousseau,</institution></institution-wrap>75012 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Marzin, Pauline" sort="Marzin, Pauline" uniqKey="Marzin P" first="Pauline" last="Marzin">Pauline Marzin</name><affiliation><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 9058</institution-id><institution-id institution-id-type="GRID">grid.411439.a</institution-id><institution></institution><institution>AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique,</institution></institution-wrap>75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Scheidecker, Sophie" sort="Scheidecker, Sophie" uniqKey="Scheidecker S" first="Sophie" last="Scheidecker">Sophie Scheidecker</name><affiliation><nlm:aff id="Aff2"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2177 138X</institution-id><institution-id institution-id-type="GRID">grid.412220.7</institution-id><institution>Laboratoires de Génétique, Institut de Génétique médicale d’Alsace,</institution><institution>Hôpitaux Universitaires de Strasbourg,</institution></institution-wrap>67000 Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="De Saint Martin, Anne" sort="De Saint Martin, Anne" uniqKey="De Saint Martin A" first="Anne" last="De Saint-Martin">Anne De Saint-Martin</name><affiliation><nlm:aff id="Aff1">IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67400 Illkirch, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff21"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2177 138X</institution-id><institution-id institution-id-type="GRID">grid.412220.7</institution-id><institution>Pediatric Neurology Department, Hautepierre Hospital,</institution><institution>Strasbourg University Hospital,</institution></institution-wrap>Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Hirsch, Edouard" sort="Hirsch, Edouard" uniqKey="Hirsch E" first="Edouard" last="Hirsch">Edouard Hirsch</name><affiliation><nlm:aff id="Aff1">IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67400 Illkirch, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff22"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2177 138X</institution-id><institution-id institution-id-type="GRID">grid.412220.7</institution-id><institution>Medical and Surgical Epilepsy Unit, Hautepierre Hospital,</institution><institution>Strasbourg University Hospital,</institution></institution-wrap>Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Korff, Christian" sort="Korff, Christian" uniqKey="Korff C" first="Christian" last="Korff">Christian Korff</name><affiliation><nlm:aff id="Aff23"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0721 9812</institution-id><institution-id institution-id-type="GRID">grid.150338.c</institution-id><institution>Département de l’Enfant et de l’Adolescent, Neuropédiatrie,</institution><institution>Hôpitaux Universitaires de Genève,</institution></institution-wrap>Geneva, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Bottani, Armand" sort="Bottani, Armand" uniqKey="Bottani A" first="Armand" last="Bottani">Armand Bottani</name><affiliation><nlm:aff id="Aff24"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0721 9812</institution-id><institution-id institution-id-type="GRID">grid.150338.c</institution-id><institution>Service de Médecine génétique,</institution><institution>Hôpitaux Universitaires de Genève,</institution></institution-wrap>Geneva, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation><nlm:aff id="Aff25"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2298 9313</institution-id><institution-id institution-id-type="GRID">grid.5613.1</institution-id><institution>Equipe d’Accueil 4271, Génétique des Anomalies du Développement,</institution><institution>Université de Bourgogne,</institution></institution-wrap>21079 Dijon, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff26"><institution-wrap><institution-id institution-id-type="GRID">grid.31151.37</institution-id><institution>Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l’Interrégion Est,</institution><institution>Centre Hospitalier Universitaire Dijon,</institution></institution-wrap>21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name><affiliation><nlm:aff id="Aff7"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0589</institution-id><institution-id institution-id-type="GRID">grid.413235.2</institution-id><institution></institution><institution>AP-HP, Department of Genetics, Hôpital Robert Debré,</institution></institution-wrap>Paris, France</nlm:aff></affiliation></author><author><name sortKey="Orzechowski, Christine" sort="Orzechowski, Christine" uniqKey="Orzechowski C" first="Christine" last="Orzechowski">Christine Orzechowski</name><affiliation><nlm:aff id="Aff27">Service de Pédiatrie, Hôpital Saint-Camille Bry-sur-Marne, Le Chesnay, France</nlm:aff></affiliation></author><author><name sortKey="Burglen, Lydie" sort="Burglen, Lydie" uniqKey="Burglen L" first="Lydie" last="Burglen">Lydie Burglen</name><affiliation><nlm:aff id="Aff8">INSERM UMR U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff28"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id><institution-id institution-id-type="GRID">grid.413776.0</institution-id><institution>AP-HP, Service de Génétique,</institution><institution>Hôpital Trousseau,</institution></institution-wrap>75012 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff29"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id><institution-id institution-id-type="GRID">grid.413776.0</institution-id><institution>Centre de Référence des Malformations et Maladies Congénitales du Cervelet,</institution><institution>Hôpital Trousseau,</institution></institution-wrap>75012 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Leheup, Bruno" sort="Leheup, Bruno" uniqKey="Leheup B" first="Bruno" last="Leheup">Bruno Leheup</name><affiliation><nlm:aff id="Aff30"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1765 1301</institution-id><institution-id institution-id-type="GRID">grid.410527.5</institution-id><institution></institution><institution>Service de génétique clinique, Hôpital de Brabois, CHU de Nancy,</institution></institution-wrap>Nancy, France</nlm:aff></affiliation></author><author><name sortKey="Roume, Joelle" sort="Roume, Joelle" uniqKey="Roume J" first="Joelle" last="Roume">Joelle Roume</name><affiliation><nlm:aff id="Aff31">Department of Genetics, Poissy-Saint-Germain-en-Laye Hospital, Poissy, France</nlm:aff></affiliation></author><author><name sortKey="Andrieux, Joris" sort="Andrieux, Joris" uniqKey="Andrieux J" first="Joris" last="Andrieux">Joris Andrieux</name><affiliation><nlm:aff id="Aff32"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0471 8845</institution-id><institution-id institution-id-type="GRID">grid.410463.4</institution-id><institution>Institut de Génétique Médicale,</institution><institution>CHRU de Lille,</institution></institution-wrap>Lille, France</nlm:aff></affiliation></author><author><name sortKey="Sheth, Frenny" sort="Sheth, Frenny" uniqKey="Sheth F" first="Frenny" last="Sheth">Frenny Sheth</name><affiliation><nlm:aff id="Aff33">Department of Cytogenetics and Molecular Cytogenetics, FRIGE’s Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India</nlm:aff></affiliation></author><author><name sortKey="Datar, Chaitanya" sort="Datar, Chaitanya" uniqKey="Datar C" first="Chaitanya" last="Datar">Chaitanya Datar</name><affiliation><nlm:aff id="Aff34">Sahyadari Medical Genetics and Tissue engineering facility (SMGTEF), Pune, 411005 India</nlm:aff></affiliation></author><author><name sortKey="Parker, Michael J" sort="Parker, Michael J" uniqKey="Parker M" first="Michael J." last="Parker">Michael J. Parker</name><affiliation><nlm:aff id="Aff35"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0641 5987</institution-id><institution-id institution-id-type="GRID">grid.412937.a</institution-id><institution>Sheffield Clinical Genetics Service, OPD2,</institution><institution>Northern General Hospital,</institution></institution-wrap>Herries Road, Sheffield, S5 7AU UK</nlm:aff></affiliation></author><author><name sortKey="Pasquier, Laurent" sort="Pasquier, Laurent" uniqKey="Pasquier L" first="Laurent" last="Pasquier">Laurent Pasquier</name><affiliation><nlm:aff id="Aff36"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2175 0984</institution-id><institution-id institution-id-type="GRID">grid.411154.4</institution-id><institution>Service de Génétique Clinique,</institution><institution>CHU de Rennes,</institution></institution-wrap>Rennes, France</nlm:aff></affiliation></author><author><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name><affiliation><nlm:aff id="Aff36"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2175 0984</institution-id><institution-id institution-id-type="GRID">grid.411154.4</institution-id><institution>Service de Génétique Clinique,</institution><institution>CHU de Rennes,</institution></institution-wrap>Rennes, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff37"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2175 0984</institution-id><institution-id institution-id-type="GRID">grid.411154.4</institution-id><institution>Centre de référence CLAD-Ouest,</institution><institution>CHU Rennes,</institution></institution-wrap>Rennes, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff38"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2191 9284</institution-id><institution-id institution-id-type="GRID">grid.410368.8</institution-id><institution>UMR 6290 CNRS, IGDR Institut de Génétique et développement de Rennes,</institution><institution>Université de Rennes 1,</institution></institution-wrap>Rennes, France</nlm:aff></affiliation></author><author><name sortKey="Naudion, Sophie" sort="Naudion, Sophie" uniqKey="Naudion S" first="Sophie" last="Naudion">Sophie Naudion</name><affiliation><nlm:aff id="Aff39"><institution-wrap><institution-id institution-id-type="GRID">grid.414263.6</institution-id><institution>Service de Génétique Médicale,</institution><institution>Hôpital Pellegrin, CHU Bordeaux,</institution></institution-wrap>Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Delrue, Marie Ange" sort="Delrue, Marie Ange" uniqKey="Delrue M" first="Marie-Ange" last="Delrue">Marie-Ange Delrue</name><affiliation><nlm:aff id="Aff39"><institution-wrap><institution-id institution-id-type="GRID">grid.414263.6</institution-id><institution>Service de Génétique Médicale,</institution><institution>Hôpital Pellegrin, CHU Bordeaux,</institution></institution-wrap>Bordeaux, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff40"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0593 7118</institution-id><institution-id institution-id-type="GRID">grid.42399.35</institution-id><institution>Centre de Référence des Anomalies du Développement Embryonnaire,</institution><institution>CHU Bordeaux,</institution></institution-wrap>Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Le Caignec, Cedric" sort="Le Caignec, Cedric" uniqKey="Le Caignec C" first="Cédric" last="Le Caignec">Cédric Le Caignec</name><affiliation><nlm:aff id="Aff41"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0472 0371</institution-id><institution-id institution-id-type="GRID">grid.277151.7</institution-id><institution></institution><institution>Service de Génétique Médicale, CHU de Nantes,</institution></institution-wrap>Nantes, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff42">Faculté de Médecine, INSERM, UMR 957, Physiopathologie de la résorption osseuse et des tumeurs osseuses primitives, Université, Nantes, France</nlm:aff></affiliation></author><author><name sortKey="Vincent, Marie" sort="Vincent, Marie" uniqKey="Vincent M" first="Marie" last="Vincent">Marie Vincent</name><affiliation><nlm:aff id="Aff41"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0472 0371</institution-id><institution-id institution-id-type="GRID">grid.277151.7</institution-id><institution></institution><institution>Service de Génétique Médicale, CHU de Nantes,</institution></institution-wrap>Nantes, France</nlm:aff></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation><nlm:aff id="Aff41"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0472 0371</institution-id><institution-id institution-id-type="GRID">grid.277151.7</institution-id><institution></institution><institution>Service de Génétique Médicale, CHU de Nantes,</institution></institution-wrap>Nantes, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff42">Faculté de Médecine, INSERM, UMR 957, Physiopathologie de la résorption osseuse et des tumeurs osseuses primitives, Université, Nantes, France</nlm:aff></affiliation></author><author><name sortKey="Renaldo, Florence" sort="Renaldo, Florence" uniqKey="Renaldo F" first="Florence" last="Renaldo">Florence Renaldo</name><affiliation><nlm:aff id="Aff6"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0589</institution-id><institution-id institution-id-type="GRID">grid.413235.2</institution-id><institution></institution><institution>AP-HP, Department of Child Neurology, Hôpital Robert Debré,</institution></institution-wrap>Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff10"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id><institution-id institution-id-type="GRID">grid.413776.0</institution-id><institution></institution><institution>AP-HP, Service de Neuropédiatrie, Hôpital Trousseau,</institution></institution-wrap>75012 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Stewart, Fiona" sort="Stewart, Fiona" uniqKey="Stewart F" first="Fiona" last="Stewart">Fiona Stewart</name><affiliation><nlm:aff id="Aff43">Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Ireland</nlm:aff></affiliation></author><author><name sortKey="Toutain, Annick" sort="Toutain, Annick" uniqKey="Toutain A" first="Annick" last="Toutain">Annick Toutain</name><affiliation><nlm:aff id="Aff44"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1765 1600</institution-id><institution-id institution-id-type="GRID">grid.411167.4</institution-id><institution>Service de Génétique Médicale,</institution><institution>CHU Tours,</institution></institution-wrap>Tours, France</nlm:aff></affiliation></author><author><name sortKey="Koehler, Udo" sort="Koehler, Udo" uniqKey="Koehler U" first="Udo" last="Koehler">Udo Koehler</name><affiliation><nlm:aff id="Aff45">Medizinisch Genetisches Zentrum, 80335 Munich, Germany</nlm:aff></affiliation></author><author><name sortKey="H Ckl, Birgit" sort="H Ckl, Birgit" uniqKey="H Ckl B" first="Birgit" last="H Ckl">Birgit H Ckl</name><affiliation><nlm:aff id="Aff46">Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569 Vogtareuth, Germany</nlm:aff></affiliation></author><author><name sortKey="Von Stulpnagel, Celina" sort="Von Stulpnagel, Celina" uniqKey="Von Stulpnagel C" first="Celina" last="Von Stülpnagel">Celina Von Stülpnagel</name><affiliation><nlm:aff id="Aff46">Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569 Vogtareuth, Germany</nlm:aff></affiliation></author><author><name sortKey="Kluger, Gerhard" sort="Kluger, Gerhard" uniqKey="Kluger G" first="Gerhard" last="Kluger">Gerhard Kluger</name><affiliation><nlm:aff id="Aff46">Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569 Vogtareuth, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="Aff47">PMU Salzburg, Salzburg, Austria</nlm:aff></affiliation></author><author><name sortKey="M Ller, Rikke S" sort="M Ller, Rikke S" uniqKey="M Ller R" first="Rikke S." last="M Ller">Rikke S. M Ller</name><affiliation><nlm:aff id="Aff48"><institution-wrap><institution-id institution-id-type="GRID">grid.452376.1</institution-id><institution></institution><institution>The Danish Epilepsy Centre,</institution></institution-wrap>Dianalund, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="Aff49"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0728 0170</institution-id><institution-id institution-id-type="GRID">grid.10825.3e</institution-id><institution>Institute for Regional Health Services,</institution><institution>University of Southern Denmark,</institution></institution-wrap>Odense, Denmark</nlm:aff></affiliation><affiliation><nlm:aff id="Aff55">EuroEPINOMICS RES consortium,<uri>http://www.euroepinomics.org/</uri></nlm:aff></affiliation></author><author><name sortKey="Pal, Deb" sort="Pal, Deb" uniqKey="Pal D" first="Deb" last="Pal">Deb Pal</name><affiliation><nlm:aff id="Aff50"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2322 6764</institution-id><institution-id institution-id-type="GRID">grid.13097.3c</institution-id><institution>Department of Clinical Neuroscience, Institute of Psychiatry,</institution><institution>King’s College London,</institution></institution-wrap>London, UK</nlm:aff></affiliation><affiliation><nlm:aff id="Aff55">EuroEPINOMICS RES consortium,<uri>http://www.euroepinomics.org/</uri></nlm:aff></affiliation></author><author><name sortKey="Jonson, Tord" sort="Jonson, Tord" uniqKey="Jonson T" first="Tord" last="Jonson">Tord Jonson</name><affiliation><nlm:aff id="Aff51"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0930 2361</institution-id><institution-id institution-id-type="GRID">grid.4514.4</institution-id><institution>Department of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital,</institution><institution>Lund University,</institution></institution-wrap>Lund, Sweden</nlm:aff></affiliation></author><author><name sortKey="Soller, Maria" sort="Soller, Maria" uniqKey="Soller M" first="Maria" last="Soller">Maria Soller</name><affiliation><nlm:aff id="Aff52"><institution-wrap><institution-id institution-id-type="GRID">grid.411843.b</institution-id><institution>Department of Clinical Genetics,</institution><institution>Lund University Hospital,</institution></institution-wrap>221 85 Lund, Sweden</nlm:aff></affiliation></author><author><name sortKey="Verbeek, Nienke E" sort="Verbeek, Nienke E" uniqKey="Verbeek N" first="Nienke E." last="Verbeek">Nienke E. Verbeek</name><affiliation><nlm:aff id="Aff53"><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Department of Genetics,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, 3584 CX The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Haelst, Mieke M" sort="Van Haelst, Mieke M" uniqKey="Van Haelst M" first="Mieke M." last="Van Haelst">Mieke M. Van Haelst</name><affiliation><nlm:aff id="Aff53"><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Department of Genetics,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, 3584 CX The Netherlands</nlm:aff></affiliation></author><author><name sortKey="De Kovel, Carolien" sort="De Kovel, Carolien" uniqKey="De Kovel C" first="Carolien" last="De Kovel">Carolien De Kovel</name><affiliation><nlm:aff id="Aff53"><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Department of Genetics,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, 3584 CX The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Koeleman, Bobby" sort="Koeleman, Bobby" uniqKey="Koeleman B" first="Bobby" last="Koeleman">Bobby Koeleman</name><affiliation><nlm:aff id="Aff53"><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Department of Genetics,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, 3584 CX The Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="Aff54"><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Center for Molecular Medicine,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, 3584 CX The Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="Aff55">EuroEPINOMICS RES consortium,<uri>http://www.euroepinomics.org/</uri></nlm:aff></affiliation></author><author><name sortKey="Monroe, Glen" sort="Monroe, Glen" uniqKey="Monroe G" first="Glen" last="Monroe">Glen Monroe</name><affiliation><nlm:aff id="Aff53"><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Department of Genetics,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, 3584 CX The Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="Aff54"><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Center for Molecular Medicine,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, 3584 CX The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Van Haaften, Gijs" sort="Van Haaften, Gijs" uniqKey="Van Haaften G" first="Gijs" last="Van Haaften">Gijs Van Haaften</name><affiliation><nlm:aff id="Aff53"><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Department of Genetics,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, 3584 CX The Netherlands</nlm:aff></affiliation><affiliation><nlm:aff id="Aff54"><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Center for Molecular Medicine,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, 3584 CX The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Attie Bitach, Tania" sort="Attie Bitach, Tania" uniqKey="Attie Bitach T" first="Tania" last="Attié-Bitach">Tania Attié-Bitach</name><affiliation><nlm:aff id="Aff17"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2188 0914</institution-id><institution-id institution-id-type="GRID">grid.10992.33</institution-id><institution>INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations,</institution><institution>Sorbonne Paris Cité and Imagine Institute, Paris Descartes University,</institution></institution-wrap>75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff19"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0593 9113</institution-id><institution-id institution-id-type="GRID">grid.412134.1</institution-id><institution></institution><institution>AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades,</institution></institution-wrap>75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Boutaud, Lucile" sort="Boutaud, Lucile" uniqKey="Boutaud L" first="Lucile" last="Boutaud">Lucile Boutaud</name><affiliation><nlm:aff id="Aff17"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2188 0914</institution-id><institution-id institution-id-type="GRID">grid.10992.33</institution-id><institution>INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations,</institution><institution>Sorbonne Paris Cité and Imagine Institute, Paris Descartes University,</institution></institution-wrap>75015 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff19"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0593 9113</institution-id><institution-id institution-id-type="GRID">grid.412134.1</institution-id><institution></institution><institution>AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades,</institution></institution-wrap>75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Heron, Delphine" sort="Heron, Delphine" uniqKey="Heron D" first="Delphine" last="Héron">Delphine Héron</name><affiliation><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 9058</institution-id><institution-id institution-id-type="GRID">grid.411439.a</institution-id><institution></institution><institution>AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique,</institution></institution-wrap>75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff5"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 9058</institution-id><institution-id institution-id-type="GRID">grid.411439.a</institution-id><institution></institution><institution>Groupe de Recherche Clinique (GRC) “déficience intellectuelle et autisme” UPMC, Groupe Hospitalier Pitié-Salpêtrière,</institution></institution-wrap>75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff16">Centre de Référence “déficiences intellectuelles de causes rares”, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><affiliation><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 9058</institution-id><institution-id institution-id-type="GRID">grid.411439.a</institution-id><institution></institution><institution>AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique,</institution></institution-wrap>75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff5"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 9058</institution-id><institution-id institution-id-type="GRID">grid.411439.a</institution-id><institution></institution><institution>Groupe de Recherche Clinique (GRC) “déficience intellectuelle et autisme” UPMC, Groupe Hospitalier Pitié-Salpêtrière,</institution></institution-wrap>75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff16">Centre de Référence “déficiences intellectuelles de causes rares”, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff55">EuroEPINOMICS RES consortium,<uri>http://www.euroepinomics.org/</uri></nlm:aff></affiliation></author></analytic><series><title level="j">Human Genetics</title><idno type="ISSN">0340-6717</idno><idno type="eISSN">1432-1203</idno><imprint><date when="2017">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, <italic>AKT3</italic>, <italic>HNRNPU</italic> and <italic>ZBTB18</italic> are highly expressed in the brain and point mutations in these genes have been recently identified in children with neurodevelopmental phenotypes. In this study, we report the clinical and molecular data from 17 patients with 1q43q44 microdeletions, four with <italic>ZBTB18</italic> mutations and seven with <italic>HNRNPU</italic> mutations, and review additional data from 37 previously published patients with 1q43q44 microdeletions. We compare clinical data of patients with 1q43q44 microdeletions with those of patients with point mutations in <italic>HNRNPU</italic> and <italic>ZBTB18</italic> to assess the contribution of each gene as well as the possibility of epistasis between genes. Our study demonstrates that <italic>AKT3</italic> haploinsufficiency is the main driver for microcephaly, whereas <italic>HNRNPU</italic> alteration mostly drives epilepsy and determines the degree of intellectual disability. <italic>ZBTB18</italic> deletions or mutations are associated with variable corpus callosum anomalies with an incomplete penetrance. <italic>ZBTB18</italic> may also contribute to microcephaly and <italic>HNRNPU</italic> to thin corpus callosum, but with a lower penetrance. Co-deletion of contiguous genes has additive effects. Our results confirm and refine the complex genotype-phenotype correlations existing in the 1qter microdeletion syndrome and define more precisely the neurodevelopmental phenotypes associated with genetic alterations of <italic>AKT3, ZBTB18</italic> and <italic>HNRNPU</italic> in humans.</p><sec><title>Electronic supplementary material</title><p>The online version of this article (doi:10.1007/s00439-017-1772-0) contains supplementary material, which is available to authorized users.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Ballif, Bc" uniqKey="Ballif B">BC Ballif</name></author><author><name sortKey="Rosenfeld, Ja" uniqKey="Rosenfeld J">JA Rosenfeld</name></author><author><name sortKey="Traylor, R" uniqKey="Traylor R">R Traylor</name></author><author><name sortKey="Theisen, A" uniqKey="Theisen A">A Theisen</name></author><author><name sortKey="Bader, Pi" uniqKey="Bader P">PI Bader</name></author><author><name sortKey="Ladda, Rl" uniqKey="Ladda R">RL Ladda</name></author><author><name sortKey="Sell, Sl" uniqKey="Sell S">SL Sell</name></author><author><name sortKey="Steinraths, M" uniqKey="Steinraths M">M Steinraths</name></author><author><name sortKey="Surti, U" uniqKey="Surti U">U Surti</name></author><author><name sortKey="Mcguire, M" uniqKey="Mcguire M">M McGuire</name></author><author><name sortKey="Williams, S" uniqKey="Williams S">S Williams</name></author><author><name sortKey="Farrell, Sa" uniqKey="Farrell S">SA Farrell</name></author><author><name sortKey="Filiano, J" uniqKey="Filiano J">J Filiano</name></author><author><name sortKey="Schnur, Re" uniqKey="Schnur R">RE Schnur</name></author><author><name sortKey="Coffey, Lb" uniqKey="Coffey L">LB Coffey</name></author><author><name sortKey="Tervo, Rc" uniqKey="Tervo R">RC Tervo</name></author><author><name sortKey="Stroud, T" uniqKey="Stroud T">T Stroud</name></author><author><name sortKey="Marble, M" uniqKey="Marble M">M Marble</name></author><author><name sortKey="Netzloff, M" uniqKey="Netzloff M">M Netzloff</name></author><author><name sortKey="Hanson, K" uniqKey="Hanson K">K Hanson</name></author><author><name sortKey="Aylsworth, As" uniqKey="Aylsworth A">AS Aylsworth</name></author><author><name sortKey="Bamforth, Js" uniqKey="Bamforth J">JS Bamforth</name></author><author><name sortKey="Babu, D" uniqKey="Babu D">D Babu</name></author><author><name sortKey="Niyazov, Dm" uniqKey="Niyazov D">DM Niyazov</name></author><author><name sortKey="Ravnan, Jb" uniqKey="Ravnan J">JB Ravnan</name></author><author><name sortKey="Schultz, Ra" uniqKey="Schultz R">RA Schultz</name></author><author><name sortKey="Lamb, An" uniqKey="Lamb A">AN Lamb</name></author><author><name sortKey="Torchia, Bs" uniqKey="Torchia B">BS Torchia</name></author><author><name sortKey="Bejjani, Ba" uniqKey="Bejjani B">BA Bejjani</name></author><author><name sortKey="Shaffer, Lg" uniqKey="Shaffer L">LG Shaffer</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Baubet, V" uniqKey="Baubet V">V Baubet</name></author><author><name sortKey="Xiang, C" uniqKey="Xiang C">C Xiang</name></author><author><name sortKey="Molczan, A" uniqKey="Molczan A">A Molczan</name></author><author><name sortKey="Roccograndi, L" uniqKey="Roccograndi L">L Roccograndi</name></author><author><name sortKey="Melamed, S" uniqKey="Melamed S">S Melamed</name></author><author><name sortKey="Dahmane, N" uniqKey="Dahmane N">N Dahmane</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Boland, E" uniqKey="Boland E">E Boland</name></author><author><name sortKey="Clayton Smith, J" uniqKey="Clayton Smith J">J Clayton-Smith</name></author><author><name sortKey="Woo, Vg" uniqKey="Woo V">VG Woo</name></author><author><name sortKey="Mckee, S" uniqKey="Mckee S">S McKee</name></author><author><name sortKey="Manson, Fd" uniqKey="Manson F">FD Manson</name></author><author><name sortKey="Medne, L" uniqKey="Medne L">L Medne</name></author><author><name sortKey="Zackai, E" uniqKey="Zackai E">E Zackai</name></author><author><name sortKey="Swanson, Ea" uniqKey="Swanson E">EA Swanson</name></author><author><name sortKey="Fitzpatrick, D" uniqKey="Fitzpatrick D">D Fitzpatrick</name></author><author><name sortKey="Millen, Kj" uniqKey="Millen K">KJ Millen</name></author><author><name sortKey="Sherr, Eh" uniqKey="Sherr E">EH Sherr</name></author><author><name sortKey="Dobyns, Wb" uniqKey="Dobyns W">WB Dobyns</name></author><author><name sortKey="Black, Gc" uniqKey="Black G">GC Black</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Caliebe, A" uniqKey="Caliebe A">A Caliebe</name></author><author><name sortKey="Kroes, Hy" uniqKey="Kroes H">HY Kroes</name></author><author><name sortKey="Van Der Smagt, Jj" uniqKey="Van Der Smagt J">JJ van der Smagt</name></author><author><name sortKey="Martin Subero, Ji" uniqKey="Martin Subero J">JI Martin-Subero</name></author><author><name sortKey="Tonnies, H" uniqKey="Tonnies H">H Tonnies</name></author><author><name sortKey="Van Slot, R" uniqKey="Van Slot R">R van’t Slot</name></author><author><name sortKey="Nievelstein, Ra" uniqKey="Nievelstein R">RA Nievelstein</name></author><author><name sortKey="Muhle, H" uniqKey="Muhle H">H Muhle</name></author><author><name sortKey="Stephani, U" uniqKey="Stephani U">U Stephani</name></author><author><name sortKey="Alfke, K" uniqKey="Alfke K">K Alfke</name></author><author><name sortKey="Stefanova, I" uniqKey="Stefanova I">I Stefanova</name></author><author><name sortKey="Hellenbroich, Y" uniqKey="Hellenbroich Y">Y Hellenbroich</name></author><author><name sortKey="Gillessen Kaesbach, G" uniqKey="Gillessen Kaesbach G">G Gillessen-Kaesbach</name></author><author><name sortKey="Hochstenbach, R" uniqKey="Hochstenbach R">R Hochstenbach</name></author><author><name sortKey="Siebert, R" uniqKey="Siebert R">R Siebert</name></author><author><name sortKey="Poot, M" uniqKey="Poot M">M Poot</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Carvill, Gl" uniqKey="Carvill G">GL Carvill</name></author><author><name sortKey="Heavin, Sb" uniqKey="Heavin S">SB Heavin</name></author><author><name sortKey="Yendle, Sc" uniqKey="Yendle S">SC Yendle</name></author><author><name sortKey="Mcmahon, Jm" uniqKey="Mcmahon J">JM McMahon</name></author><author><name sortKey="O Oak, Bj" uniqKey="O Oak B">BJ O’Roak</name></author><author><name sortKey="Cook, J" uniqKey="Cook J">J Cook</name></author><author><name sortKey="Khan, A" uniqKey="Khan A">A Khan</name></author><author><name sortKey="Dorschner, Mo" uniqKey="Dorschner M">MO Dorschner</name></author><author><name sortKey="Weaver, M" uniqKey="Weaver M">M Weaver</name></author><author><name sortKey="Calvert, S" uniqKey="Calvert S">S Calvert</name></author><author><name sortKey="Malone, S" uniqKey="Malone S">S Malone</name></author><author><name sortKey="Wallace, G" uniqKey="Wallace G">G Wallace</name></author><author><name sortKey="Stanley, T" uniqKey="Stanley T">T Stanley</name></author><author><name sortKey="Bye, Am" uniqKey="Bye A">AM Bye</name></author><author><name sortKey="Bleasel, A" uniqKey="Bleasel A">A Bleasel</name></author><author><name sortKey="Howell, Kb" uniqKey="Howell K">KB Howell</name></author><author><name sortKey="Kivity, S" uniqKey="Kivity S">S Kivity</name></author><author><name sortKey="Mackay, Mt" uniqKey="Mackay M">MT Mackay</name></author><author><name sortKey="Rodriguez Casero, V" uniqKey="Rodriguez Casero V">V Rodriguez-Casero</name></author><author><name sortKey="Webster, R" uniqKey="Webster R">R Webster</name></author><author><name sortKey="Korczyn, A" uniqKey="Korczyn A">A Korczyn</name></author><author><name sortKey="Afawi, Z" uniqKey="Afawi Z">Z Afawi</name></author><author><name sortKey="Zelnick, N" uniqKey="Zelnick N">N Zelnick</name></author><author><name sortKey="Lerman Sagie, T" uniqKey="Lerman Sagie T">T Lerman-Sagie</name></author><author><name sortKey="Lev, D" uniqKey="Lev D">D Lev</name></author><author><name sortKey="Moller, Rs" uniqKey="Moller R">RS Moller</name></author><author><name sortKey="Gill, D" uniqKey="Gill D">D Gill</name></author><author><name sortKey="Andrade, Dm" uniqKey="Andrade D">DM Andrade</name></author><author><name sortKey="Freeman, Jl" uniqKey="Freeman J">JL Freeman</name></author><author><name sortKey="Sadleir, Lg" uniqKey="Sadleir L">LG Sadleir</name></author><author><name sortKey="Shendure, J" uniqKey="Shendure J">J Shendure</name></author><author><name sortKey="Berkovic, Sf" uniqKey="Berkovic S">SF Berkovic</name></author><author><name sortKey="Scheffer, Ie" uniqKey="Scheffer I">IE Scheffer</name></author><author><name sortKey="Mefford, Hc" uniqKey="Mefford H">HC Mefford</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Cohen, Js" uniqKey="Cohen J">JS Cohen</name></author><author><name sortKey="Srivastava, S" uniqKey="Srivastava S">S Srivastava</name></author><author><name sortKey="Farwell Hagman, Kd" uniqKey="Farwell Hagman K">KD Farwell Hagman</name></author><author><name sortKey="Shinde, Dn" uniqKey="Shinde D">DN Shinde</name></author><author><name sortKey="Huether, R" uniqKey="Huether R">R Huether</name></author><author><name sortKey="Darcy, D" uniqKey="Darcy D">D Darcy</name></author><author><name sortKey="Wallerstein, R" uniqKey="Wallerstein R">R Wallerstein</name></author><author><name sortKey="Houge, G" uniqKey="Houge G">G Houge</name></author><author><name sortKey="Berland, S" uniqKey="Berland S">S Berland</name></author><author><name sortKey="Monaghan, Kg" uniqKey="Monaghan K">KG Monaghan</name></author><author><name sortKey="Poretti, A" uniqKey="Poretti A">A Poretti</name></author><author><name sortKey="Wilson, Al" uniqKey="Wilson A">AL Wilson</name></author><author><name sortKey="Chung, Wk" uniqKey="Chung W">WK Chung</name></author><author><name sortKey="Fatemi, A" uniqKey="Fatemi A">A Fatemi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Conti, V" uniqKey="Conti V">V Conti</name></author><author><name sortKey="Pantaleo, M" uniqKey="Pantaleo M">M Pantaleo</name></author><author><name sortKey="Barba, C" uniqKey="Barba C">C Barba</name></author><author><name sortKey="Baroni, G" uniqKey="Baroni G">G Baroni</name></author><author><name sortKey="Mei, D" uniqKey="Mei D">D Mei</name></author><author><name sortKey="Buccoliero, Am" uniqKey="Buccoliero A">AM Buccoliero</name></author><author><name sortKey="Giglio, S" uniqKey="Giglio S">S Giglio</name></author><author><name sortKey="Giordano, F" uniqKey="Giordano F">F Giordano</name></author><author><name sortKey="Baek, St" uniqKey="Baek S">ST Baek</name></author><author><name sortKey="Gleeson, Jg" uniqKey="Gleeson J">JG Gleeson</name></author><author><name sortKey="Guerrini, R" uniqKey="Guerrini R">R Guerrini</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="De Kovel, Cg" uniqKey="De Kovel C">CG de Kovel</name></author><author><name sortKey="Brilstra, Eh" uniqKey="Brilstra E">EH Brilstra</name></author><author><name sortKey="Van Kempen, Mj" uniqKey="Van Kempen M">MJ van Kempen</name></author><author><name sortKey="Van Slot, R" uniqKey="Van Slot R">R Van’t Slot</name></author><author><name sortKey="Nijman, Ij" uniqKey="Nijman I">IJ Nijman</name></author><author><name sortKey="Afawi, Z" uniqKey="Afawi Z">Z Afawi</name></author><author><name sortKey="De Jonghe, P" uniqKey="De Jonghe P">P De Jonghe</name></author><author><name sortKey="Djemie, T" uniqKey="Djemie T">T Djemie</name></author><author><name sortKey="Guerrini, R" uniqKey="Guerrini R">R Guerrini</name></author><author><name sortKey="Hardies, K" uniqKey="Hardies K">K Hardies</name></author><author><name sortKey="Helbig, I" uniqKey="Helbig I">I Helbig</name></author><author><name sortKey="Hendrickx, R" uniqKey="Hendrickx R">R Hendrickx</name></author><author><name sortKey="Kanaan, M" uniqKey="Kanaan M">M Kanaan</name></author><author><name sortKey="Kramer, U" uniqKey="Kramer U">U Kramer</name></author><author><name sortKey="Lehesjoki, Ae" uniqKey="Lehesjoki A">AE Lehesjoki</name></author><author><name sortKey="Lemke, Jr" uniqKey="Lemke J">JR Lemke</name></author><author><name sortKey="Marini, C" uniqKey="Marini C">C Marini</name></author><author><name sortKey="Mei, D" uniqKey="Mei D">D Mei</name></author><author><name sortKey="Moller, Rs" uniqKey="Moller R">RS Moller</name></author><author><name sortKey="Pendziwiat, M" uniqKey="Pendziwiat M">M Pendziwiat</name></author><author><name sortKey="Stamberger, H" uniqKey="Stamberger H">H Stamberger</name></author><author><name sortKey="Suls, A" uniqKey="Suls A">A Suls</name></author><author><name sortKey="Weckhuysen, S" uniqKey="Weckhuysen S">S Weckhuysen</name></author><author><name sortKey="Euro, Eresc" uniqKey="Euro E">ERESC Euro</name></author><author><name sortKey="Koeleman, Bp" uniqKey="Koeleman B">BP Koeleman</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="De Munnik, Sa" uniqKey="De Munnik S">SA de Munnik</name></author><author><name sortKey="Garcia Minaur, S" uniqKey="Garcia Minaur S">S Garcia-Minaur</name></author><author><name sortKey="Hoischen, A" uniqKey="Hoischen A">A Hoischen</name></author><author><name sortKey="Van Bon, Bw" uniqKey="Van Bon B">BW van Bon</name></author><author><name sortKey="Boycott, Km" uniqKey="Boycott K">KM Boycott</name></author><author><name sortKey="Schoots, J" uniqKey="Schoots J">J Schoots</name></author><author><name sortKey="Hoefsloot, Lh" uniqKey="Hoefsloot L">LH Hoefsloot</name></author><author><name sortKey="Knoers, Nv" uniqKey="Knoers N">NV Knoers</name></author><author><name sortKey="Bongers, Em" uniqKey="Bongers E">EM Bongers</name></author><author><name sortKey="Brunner, Hg" uniqKey="Brunner H">HG Brunner</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Doss, S" uniqKey="Doss S">S Doss</name></author><author><name sortKey="Lohmann, K" uniqKey="Lohmann K">K Lohmann</name></author><author><name sortKey="Seibler, P" uniqKey="Seibler P">P Seibler</name></author><author><name sortKey="Arns, B" uniqKey="Arns B">B Arns</name></author><author><name sortKey="Klopstock, T" uniqKey="Klopstock T">T Klopstock</name></author><author><name sortKey="Zuhlke, C" uniqKey="Zuhlke C">C Zuhlke</name></author><author><name sortKey="Freimann, K" uniqKey="Freimann K">K Freimann</name></author><author><name sortKey="Winkler, S" uniqKey="Winkler S">S Winkler</name></author><author><name sortKey="Lohnau, T" uniqKey="Lohnau T">T Lohnau</name></author><author><name sortKey="Drungowski, M" uniqKey="Drungowski M">M Drungowski</name></author><author><name sortKey="Nurnberg, P" uniqKey="Nurnberg P">P Nurnberg</name></author><author><name sortKey="Wiegers, K" uniqKey="Wiegers K">K Wiegers</name></author><author><name sortKey="Lohmann, E" uniqKey="Lohmann E">E Lohmann</name></author><author><name sortKey="Naz, S" uniqKey="Naz S">S Naz</name></author><author><name sortKey="Kasten, M" uniqKey="Kasten M">M Kasten</name></author><author><name sortKey="Bohner, G" uniqKey="Bohner G">G Bohner</name></author><author><name sortKey="Ramirez, A" uniqKey="Ramirez A">A Ramirez</name></author><author><name sortKey="Endres, M" uniqKey="Endres M">M Endres</name></author><author><name sortKey="Klein, C" uniqKey="Klein C">C Klein</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Du, X" uniqKey="Du X">X Du</name></author><author><name sortKey="An, Y" uniqKey="An Y">Y An</name></author><author><name sortKey="Yu, L" uniqKey="Yu L">L Yu</name></author><author><name sortKey="Liu, R" uniqKey="Liu R">R Liu</name></author><author><name sortKey="Qin, Y" uniqKey="Qin Y">Y Qin</name></author><author><name sortKey="Guo, X" uniqKey="Guo X">X Guo</name></author><author><name sortKey="Sun, D" uniqKey="Sun D">D Sun</name></author><author><name sortKey="Zhou, S" uniqKey="Zhou S">S Zhou</name></author><author><name sortKey="Wu, B" uniqKey="Wu B">B Wu</name></author><author><name sortKey="Jiang, Yh" uniqKey="Jiang Y">YH Jiang</name></author><author><name sortKey="Wang, Y" uniqKey="Wang Y">Y Wang</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Easton, Rm" uniqKey="Easton R">RM Easton</name></author><author><name sortKey="Cho, H" uniqKey="Cho H">H Cho</name></author><author><name sortKey="Roovers, K" uniqKey="Roovers K">K Roovers</name></author><author><name sortKey="Shineman, Dw" uniqKey="Shineman D">DW Shineman</name></author><author><name sortKey="Mizrahi, M" uniqKey="Mizrahi M">M Mizrahi</name></author><author><name sortKey="Forman, Ms" uniqKey="Forman M">MS Forman</name></author><author><name sortKey="Lee, Vm" uniqKey="Lee V">VM Lee</name></author><author><name sortKey="Szabolcs, M" uniqKey="Szabolcs M">M Szabolcs</name></author><author><name sortKey="De Jong, R" uniqKey="De Jong R">R de Jong</name></author><author><name sortKey="Oltersdorf, T" uniqKey="Oltersdorf T">T Oltersdorf</name></author><author><name sortKey="Ludwig, T" uniqKey="Ludwig T">T Ludwig</name></author><author><name sortKey="Efstratiadis, A" uniqKey="Efstratiadis A">A Efstratiadis</name></author><author><name sortKey="Birnbaum, Mj" uniqKey="Birnbaum M">MJ Birnbaum</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Allen, As" uniqKey="Allen A">AS Allen</name></author><author><name sortKey="Berkovic, Sf" uniqKey="Berkovic S">SF Berkovic</name></author><author><name sortKey="Cossette, P" uniqKey="Cossette P">P Cossette</name></author><author><name sortKey="Delanty, N" uniqKey="Delanty N">N Delanty</name></author><author><name sortKey="Dlugos, D" uniqKey="Dlugos D">D Dlugos</name></author><author><name sortKey="Eichler, Ee" uniqKey="Eichler E">EE Eichler</name></author><author><name sortKey="Epstein, Mp" uniqKey="Epstein M">MP Epstein</name></author><author><name sortKey="Glauser, T" uniqKey="Glauser T">T Glauser</name></author><author><name sortKey="Goldstein, Db" uniqKey="Goldstein D">DB Goldstein</name></author><author><name sortKey="Han, Y" uniqKey="Han Y">Y Han</name></author><author><name sortKey="Heinzen, El" uniqKey="Heinzen E">EL Heinzen</name></author><author><name sortKey="Hitomi, Y" uniqKey="Hitomi Y">Y Hitomi</name></author><author><name sortKey="Howell, Kb" uniqKey="Howell K">KB Howell</name></author><author><name sortKey="Johnson, Mr" uniqKey="Johnson M">MR Johnson</name></author><author><name sortKey="Kuzniecky, R" uniqKey="Kuzniecky R">R Kuzniecky</name></author><author><name sortKey="Lowenstein, Dh" uniqKey="Lowenstein D">DH Lowenstein</name></author><author><name sortKey="Lu, Yf" uniqKey="Lu Y">YF Lu</name></author><author><name sortKey="Madou, Mr" uniqKey="Madou M">MR Madou</name></author><author><name sortKey="Marson, Ag" uniqKey="Marson A">AG Marson</name></author><author><name sortKey="Mefford, Hc" uniqKey="Mefford H">HC Mefford</name></author><author><name sortKey="Esmaeeli Nieh, S" uniqKey="Esmaeeli Nieh S">S Esmaeeli Nieh</name></author><author><name sortKey="O Rien, Tj" uniqKey="O Rien T">TJ O’Brien</name></author><author><name sortKey="Ottman, R" uniqKey="Ottman R">R Ottman</name></author><author><name sortKey="Petrovski, S" uniqKey="Petrovski S">S Petrovski</name></author><author><name sortKey="Poduri, A" uniqKey="Poduri A">A Poduri</name></author><author><name sortKey="Ruzzo, Ek" uniqKey="Ruzzo E">EK Ruzzo</name></author><author><name sortKey="Scheffer, Ie" uniqKey="Scheffer I">IE Scheffer</name></author><author><name sortKey="Sherr, Eh" uniqKey="Sherr E">EH Sherr</name></author><author><name sortKey="Yuskaitis, Cj" uniqKey="Yuskaitis C">CJ Yuskaitis</name></author><author><name sortKey="Abou Khalil, B" uniqKey="Abou Khalil B">B Abou-Khalil</name></author><author><name sortKey="Alldredge, Bk" uniqKey="Alldredge B">BK Alldredge</name></author><author><name sortKey="Bautista, Jf" uniqKey="Bautista J">JF Bautista</name></author><author><name sortKey="Berkovic, Sf" uniqKey="Berkovic S">SF Berkovic</name></author><author><name sortKey="Boro, A" uniqKey="Boro A">A Boro</name></author><author><name sortKey="Cascino, Gd" uniqKey="Cascino G">GD Cascino</name></author><author><name sortKey="Consalvo, D" uniqKey="Consalvo D">D Consalvo</name></author><author><name sortKey="Crumrine, P" uniqKey="Crumrine P">P Crumrine</name></author><author><name sortKey="Devinsky, O" uniqKey="Devinsky O">O Devinsky</name></author><author><name sortKey="Dlugos, D" uniqKey="Dlugos D">D Dlugos</name></author><author><name sortKey="Epstein, Mp" uniqKey="Epstein M">MP Epstein</name></author><author><name sortKey="Fiol, M" uniqKey="Fiol M">M Fiol</name></author><author><name sortKey="Fountain, Nb" uniqKey="Fountain N">NB Fountain</name></author><author><name sortKey="French, J" uniqKey="French J">J French</name></author><author><name sortKey="Friedman, D" uniqKey="Friedman D">D Friedman</name></author><author><name sortKey="Geller, Eb" uniqKey="Geller E">EB Geller</name></author><author><name sortKey="Glauser, T" uniqKey="Glauser T">T Glauser</name></author><author><name sortKey="Glynn, S" uniqKey="Glynn S">S Glynn</name></author><author><name sortKey="Haut, Sr" uniqKey="Haut S">SR Haut</name></author><author><name sortKey="Hayward, J" uniqKey="Hayward J">J Hayward</name></author><author><name sortKey="Helmers, Sl" uniqKey="Helmers S">SL Helmers</name></author><author><name sortKey="Joshi, S" uniqKey="Joshi S">S Joshi</name></author><author><name sortKey="Kanner, A" uniqKey="Kanner A">A Kanner</name></author><author><name sortKey="Kirsch, He" uniqKey="Kirsch H">HE Kirsch</name></author><author><name sortKey="Knowlton, Rc" uniqKey="Knowlton R">RC Knowlton</name></author><author><name sortKey="Kossoff, Eh" uniqKey="Kossoff E">EH Kossoff</name></author><author><name sortKey="Kuperman, R" uniqKey="Kuperman R">R Kuperman</name></author><author><name sortKey="Kuzniecky, R" uniqKey="Kuzniecky R">R Kuzniecky</name></author><author><name sortKey="Lowenstein, Dh" uniqKey="Lowenstein D">DH Lowenstein</name></author><author><name sortKey="Mcguire, Sm" uniqKey="Mcguire S">SM McGuire</name></author><author><name sortKey="Motika, Pv" uniqKey="Motika P">PV Motika</name></author><author><name sortKey="Novotny, Ej" uniqKey="Novotny E">EJ Novotny</name></author><author><name sortKey="Ottman, R" uniqKey="Ottman R">R Ottman</name></author><author><name sortKey="Paolicchi, Jm" uniqKey="Paolicchi J">JM Paolicchi</name></author><author><name sortKey="Parent, Jm" uniqKey="Parent J">JM Parent</name></author><author><name sortKey="Park, K" uniqKey="Park K">K Park</name></author><author><name sortKey="Poduri, A" uniqKey="Poduri A">A Poduri</name></author><author><name sortKey="Scheffer, Ie" uniqKey="Scheffer I">IE Scheffer</name></author><author><name sortKey="Shellhaas, Ra" uniqKey="Shellhaas R">RA Shellhaas</name></author><author><name sortKey="Sherr, Eh" uniqKey="Sherr E">EH Sherr</name></author><author><name sortKey="Shih, Jj" uniqKey="Shih J">JJ Shih</name></author><author><name sortKey="Singh, R" uniqKey="Singh R">R Singh</name></author><author><name sortKey="Sirven, J" uniqKey="Sirven J">J Sirven</name></author><author><name sortKey="Smith, Mc" uniqKey="Smith M">MC Smith</name></author><author><name sortKey="Sullivan, J" uniqKey="Sullivan J">J Sullivan</name></author><author><name sortKey="Lin Thio, L" uniqKey="Lin Thio L">L Lin Thio</name></author><author><name sortKey="Venkat, A" uniqKey="Venkat A">A Venkat</name></author><author><name sortKey="Vining, Ep" uniqKey="Vining E">EP Vining</name></author><author><name sortKey="Von Allmen, Gk" uniqKey="Von Allmen G">GK Von Allmen</name></author><author><name sortKey="Weisenberg, Jl" uniqKey="Weisenberg J">JL Weisenberg</name></author><author><name sortKey="Widdess Walsh, P" uniqKey="Widdess Walsh P">P Widdess-Walsh</name></author><author><name sortKey="Winawer, Mr" uniqKey="Winawer M">MR Winawer</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Firth, Hv" uniqKey="Firth H">HV Firth</name></author><author><name sortKey="Richards, Sm" uniqKey="Richards S">SM Richards</name></author><author><name sortKey="Bevan, Ap" uniqKey="Bevan A">AP Bevan</name></author><author><name sortKey="Clayton, S" uniqKey="Clayton S">S Clayton</name></author><author><name sortKey="Corpas, M" uniqKey="Corpas M">M Corpas</name></author><author><name sortKey="Rajan, D" uniqKey="Rajan D">D Rajan</name></author><author><name sortKey="Van Vooren, S" uniqKey="Van Vooren S">S Van Vooren</name></author><author><name sortKey="Moreau, Y" uniqKey="Moreau Y">Y Moreau</name></author><author><name sortKey="Pettett, Rm" uniqKey="Pettett R">RM Pettett</name></author><author><name sortKey="Carter, Np" uniqKey="Carter N">NP Carter</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gai, D" uniqKey="Gai D">D Gai</name></author><author><name sortKey="Haan, E" uniqKey="Haan E">E Haan</name></author><author><name sortKey="Scholar, M" uniqKey="Scholar M">M Scholar</name></author><author><name sortKey="Nicholl, J" uniqKey="Nicholl J">J Nicholl</name></author><author><name sortKey="Yu, S" uniqKey="Yu S">S Yu</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gupta, R" uniqKey="Gupta R">R Gupta</name></author><author><name sortKey="Agarwal, M" uniqKey="Agarwal M">M Agarwal</name></author><author><name sortKey="Boqqula, Vr" uniqKey="Boqqula V">VR Boqqula</name></author><author><name sortKey="Phadke, Rv" uniqKey="Phadke R">RV Phadke</name></author><author><name sortKey="Phadke, Sr" uniqKey="Phadke S">SR Phadke</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hamdan, Ff" uniqKey="Hamdan F">FF Hamdan</name></author><author><name sortKey="Srour, M" uniqKey="Srour M">M Srour</name></author><author><name sortKey="Capo Chichi, Jm" uniqKey="Capo Chichi J">JM Capo-Chichi</name></author><author><name sortKey="Daoud, H" uniqKey="Daoud H">H Daoud</name></author><author><name sortKey="Nassif, C" uniqKey="Nassif C">C Nassif</name></author><author><name sortKey="Patry, L" uniqKey="Patry L">L Patry</name></author><author><name sortKey="Massicotte, C" uniqKey="Massicotte C">C Massicotte</name></author><author><name sortKey="Ambalavanan, A" uniqKey="Ambalavanan A">A Ambalavanan</name></author><author><name sortKey="Spiegelman, D" uniqKey="Spiegelman D">D Spiegelman</name></author><author><name sortKey="Diallo, O" uniqKey="Diallo O">O Diallo</name></author><author><name sortKey="Henrion, E" uniqKey="Henrion E">E Henrion</name></author><author><name sortKey="Dionne Laporte, A" uniqKey="Dionne Laporte A">A Dionne-Laporte</name></author><author><name sortKey="Fougerat, A" uniqKey="Fougerat A">A Fougerat</name></author><author><name sortKey="Pshezhetsky, Av" uniqKey="Pshezhetsky A">AV Pshezhetsky</name></author><author><name sortKey="Venkateswaran, S" uniqKey="Venkateswaran S">S Venkateswaran</name></author><author><name sortKey="Rouleau, Ga" uniqKey="Rouleau G">GA Rouleau</name></author><author><name sortKey="Michaud, Jl" uniqKey="Michaud J">JL Michaud</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hemming, Ia" uniqKey="Hemming I">IA Hemming</name></author><author><name sortKey="Forrest, Ar" uniqKey="Forrest A">AR Forrest</name></author><author><name sortKey="Shipman, P" uniqKey="Shipman P">P Shipman</name></author><author><name sortKey="Woodward, Kj" uniqKey="Woodward K">KJ Woodward</name></author><author><name sortKey="Walsh, P" uniqKey="Walsh P">P Walsh</name></author><author><name sortKey="Ravine, Dg" uniqKey="Ravine D">DG Ravine</name></author><author><name sortKey="Heng, Ji" uniqKey="Heng J">JI Heng</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Heng, Ji" uniqKey="Heng J">JI Heng</name></author><author><name sortKey="Qu, Z" uniqKey="Qu Z">Z Qu</name></author><author><name sortKey="Ohtaka Maruyama, C" uniqKey="Ohtaka Maruyama C">C Ohtaka-Maruyama</name></author><author><name sortKey="Okado, H" uniqKey="Okado H">H Okado</name></author><author><name sortKey="Kasai, M" uniqKey="Kasai M">M Kasai</name></author><author><name sortKey="Castro, D" uniqKey="Castro D">D Castro</name></author><author><name sortKey="Guillemot, F" uniqKey="Guillemot F">F Guillemot</name></author><author><name sortKey="Tan, Ss" uniqKey="Tan S">SS Tan</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Huang, N" uniqKey="Huang N">N Huang</name></author><author><name sortKey="Lee, I" uniqKey="Lee I">I Lee</name></author><author><name sortKey="Marcotte, Em" uniqKey="Marcotte E">EM Marcotte</name></author><author><name sortKey="Hurles, Me" uniqKey="Hurles M">ME Hurles</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lee, Jh" uniqKey="Lee J">JH Lee</name></author><author><name sortKey="Huynh, M" uniqKey="Huynh M">M Huynh</name></author><author><name sortKey="Silhavy, Jl" uniqKey="Silhavy J">JL Silhavy</name></author><author><name sortKey="Kim, S" uniqKey="Kim S">S Kim</name></author><author><name sortKey="Dixon Salazar, T" uniqKey="Dixon Salazar T">T Dixon-Salazar</name></author><author><name sortKey="Heiberg, A" uniqKey="Heiberg A">A Heiberg</name></author><author><name sortKey="Scott, E" uniqKey="Scott E">E Scott</name></author><author><name sortKey="Bafna, V" uniqKey="Bafna V">V Bafna</name></author><author><name sortKey="Hill, Kj" uniqKey="Hill K">KJ Hill</name></author><author><name sortKey="Collazo, A" uniqKey="Collazo A">A Collazo</name></author><author><name sortKey="Funari, V" uniqKey="Funari V">V Funari</name></author><author><name sortKey="Russ, C" uniqKey="Russ C">C Russ</name></author><author><name sortKey="Gabriel, Sb" uniqKey="Gabriel S">SB Gabriel</name></author><author><name sortKey="Mathern, Gw" uniqKey="Mathern G">GW Mathern</name></author><author><name sortKey="Gleeson, Jg" uniqKey="Gleeson J">JG Gleeson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lopes, F" uniqKey="Lopes F">F Lopes</name></author><author><name sortKey="Barbosa, M" uniqKey="Barbosa M">M Barbosa</name></author><author><name sortKey="Ameur, A" uniqKey="Ameur A">A Ameur</name></author><author><name sortKey="Soares, G" uniqKey="Soares G">G Soares</name></author><author><name sortKey="De Sa, J" uniqKey="De Sa J">J de Sa</name></author><author><name sortKey="Dias, Ai" uniqKey="Dias A">AI Dias</name></author><author><name sortKey="Oliveira, G" uniqKey="Oliveira G">G Oliveira</name></author><author><name sortKey="Cabral, P" uniqKey="Cabral P">P Cabral</name></author><author><name sortKey="Temudo, T" uniqKey="Temudo T">T Temudo</name></author><author><name sortKey="Calado, E" uniqKey="Calado E">E Calado</name></author><author><name sortKey="Cruz, If" uniqKey="Cruz I">IF Cruz</name></author><author><name sortKey="Vieira, Jp" uniqKey="Vieira J">JP Vieira</name></author><author><name sortKey="Oliveira, R" uniqKey="Oliveira R">R Oliveira</name></author><author><name sortKey="Esteves, S" uniqKey="Esteves S">S Esteves</name></author><author><name sortKey="Sauer, S" uniqKey="Sauer S">S Sauer</name></author><author><name sortKey="Jonasson, I" uniqKey="Jonasson I">I Jonasson</name></author><author><name sortKey="Syvanen, Ac" uniqKey="Syvanen A">AC Syvanen</name></author><author><name sortKey="Gyllensten, U" uniqKey="Gyllensten U">U Gyllensten</name></author><author><name sortKey="Pinto, D" uniqKey="Pinto D">D Pinto</name></author><author><name sortKey="Maciel, P" uniqKey="Maciel P">P Maciel</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mignot, C" uniqKey="Mignot C">C Mignot</name></author><author><name sortKey="Moutard, Ml" uniqKey="Moutard M">ML Moutard</name></author><author><name sortKey="Rastetter, A" uniqKey="Rastetter A">A Rastetter</name></author><author><name sortKey="Boutaud, L" uniqKey="Boutaud L">L Boutaud</name></author><author><name sortKey="Heide, S" uniqKey="Heide S">S Heide</name></author><author><name sortKey="Billette, T" uniqKey="Billette T">T Billette</name></author><author><name sortKey="Doummar, D" uniqKey="Doummar D">D Doummar</name></author><author><name sortKey="Garel, C" uniqKey="Garel C">C Garel</name></author><author><name sortKey="Afenjar, A" uniqKey="Afenjar A">A Afenjar</name></author><author><name sortKey="Jacquette, A" uniqKey="Jacquette A">A Jacquette</name></author><author><name sortKey="Lacombe, D" uniqKey="Lacombe D">D Lacombe</name></author><author><name sortKey="Verloes, A" uniqKey="Verloes A">A Verloes</name></author><author><name sortKey="Bole Feysot, C" uniqKey="Bole Feysot C">C Bole-Feysot</name></author><author><name sortKey="Nitschke, P" uniqKey="Nitschke P">P Nitschke</name></author><author><name sortKey="Masson, C" uniqKey="Masson C">C Masson</name></author><author><name sortKey="Faudet, A" uniqKey="Faudet A">A Faudet</name></author><author><name sortKey="Lesne, F" uniqKey="Lesne F">F Lesne</name></author><author><name sortKey="Bienvenu, T" uniqKey="Bienvenu T">T Bienvenu</name></author><author><name sortKey="Alby, C" uniqKey="Alby C">C Alby</name></author><author><name sortKey="Attie Bitach, T" uniqKey="Attie Bitach T">T Attie-Bitach</name></author><author><name sortKey="Depienne, C" uniqKey="Depienne C">C Depienne</name></author><author><name sortKey="Nava, C" uniqKey="Nava C">C Nava</name></author><author><name sortKey="Heron, D" uniqKey="Heron D">D Heron</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mirzaa, Gm" uniqKey="Mirzaa G">GM Mirzaa</name></author><author><name sortKey="Riviere, Jb" uniqKey="Riviere J">JB Riviere</name></author><author><name sortKey="Dobyns, Wb" uniqKey="Dobyns W">WB Dobyns</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Monroe, Gr" uniqKey="Monroe G">GR Monroe</name></author><author><name sortKey="Frederix, Gw" uniqKey="Frederix G">GW Frederix</name></author><author><name sortKey="Savelberg, Sm" uniqKey="Savelberg S">SM Savelberg</name></author><author><name sortKey="De Vries, Ti" uniqKey="De Vries T">TI de Vries</name></author><author><name sortKey="Duran, Kj" uniqKey="Duran K">KJ Duran</name></author><author><name sortKey="Van Der Smagt, Jj" uniqKey="Van Der Smagt J">JJ van der Smagt</name></author><author><name sortKey="Terhal, Pa" uniqKey="Terhal P">PA Terhal</name></author><author><name sortKey="Van Hasselt, Pm" uniqKey="Van Hasselt P">PM van Hasselt</name></author><author><name sortKey="Kroes, Hy" uniqKey="Kroes H">HY Kroes</name></author><author><name sortKey="Verhoeven Duif, Nm" uniqKey="Verhoeven Duif N">NM Verhoeven-Duif</name></author><author><name sortKey="Nijman, Ij" uniqKey="Nijman I">IJ Nijman</name></author><author><name sortKey="Carbo, Ec" uniqKey="Carbo E">EC Carbo</name></author><author><name sortKey="Van Gassen, Kl" uniqKey="Van Gassen K">KL van Gassen</name></author><author><name sortKey="Knoers, Nv" uniqKey="Knoers N">NV Knoers</name></author><author><name sortKey="Hovels, Am" uniqKey="Hovels A">AM Hovels</name></author><author><name sortKey="Van Haelst, Mm" uniqKey="Van Haelst M">MM van Haelst</name></author><author><name sortKey="Visser, G" uniqKey="Visser G">G Visser</name></author><author><name sortKey="Van Haaften, G" uniqKey="Van Haaften G">G van Haaften</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nagamani, Sc" uniqKey="Nagamani S">SC Nagamani</name></author><author><name sortKey="Erez, A" uniqKey="Erez A">A Erez</name></author><author><name sortKey="Bay, C" uniqKey="Bay C">C Bay</name></author><author><name sortKey="Pettigrew, A" uniqKey="Pettigrew A">A Pettigrew</name></author><author><name sortKey="Lalani, Sr" uniqKey="Lalani S">SR Lalani</name></author><author><name sortKey="Herman, K" uniqKey="Herman K">K Herman</name></author><author><name sortKey="Graham, Bh" uniqKey="Graham B">BH Graham</name></author><author><name sortKey="Nowaczyk, Mj" uniqKey="Nowaczyk M">MJ Nowaczyk</name></author><author><name sortKey="Proud, M" uniqKey="Proud M">M Proud</name></author><author><name sortKey="Craigen, Wj" uniqKey="Craigen W">WJ Craigen</name></author><author><name sortKey="Hopkins, B" uniqKey="Hopkins B">B Hopkins</name></author><author><name sortKey="Kozel, B" uniqKey="Kozel B">B Kozel</name></author><author><name sortKey="Plunkett, K" uniqKey="Plunkett K">K Plunkett</name></author><author><name sortKey="Hixson, P" uniqKey="Hixson P">P Hixson</name></author><author><name sortKey="Stankiewicz, P" uniqKey="Stankiewicz P">P Stankiewicz</name></author><author><name sortKey="Patel, A" uniqKey="Patel A">A Patel</name></author><author><name sortKey="Cheung, Sw" uniqKey="Cheung S">SW Cheung</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Need, Ac" uniqKey="Need A">AC Need</name></author><author><name sortKey="Shashi, V" uniqKey="Shashi V">V Shashi</name></author><author><name sortKey="Hitomi, Y" uniqKey="Hitomi Y">Y Hitomi</name></author><author><name sortKey="Schoch, K" uniqKey="Schoch K">K Schoch</name></author><author><name sortKey="Shianna, Kv" uniqKey="Shianna K">KV Shianna</name></author><author><name sortKey="Mcdonald, Mt" uniqKey="Mcdonald M">MT McDonald</name></author><author><name sortKey="Meisler, Mh" uniqKey="Meisler M">MH Meisler</name></author><author><name sortKey="Goldstein, Db" uniqKey="Goldstein D">DB Goldstein</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nellist, M" uniqKey="Nellist M">M Nellist</name></author><author><name sortKey="Schot, R" uniqKey="Schot R">R Schot</name></author><author><name sortKey="Hoogeveen Westerveld, M" uniqKey="Hoogeveen Westerveld M">M Hoogeveen-Westerveld</name></author><author><name sortKey="Neuteboom, Rf" uniqKey="Neuteboom R">RF Neuteboom</name></author><author><name sortKey="Van Der Louw, Ej" uniqKey="Van Der Louw E">EJ van der Louw</name></author><author><name sortKey="Lequin, Mh" uniqKey="Lequin M">MH Lequin</name></author><author><name sortKey="Bindels De Heus, K" uniqKey="Bindels De Heus K">K Bindels-de Heus</name></author><author><name sortKey="Sibbles, Bj" uniqKey="Sibbles B">BJ Sibbles</name></author><author><name sortKey="De Coo, R" uniqKey="De Coo R">R de Coo</name></author><author><name sortKey="Brooks, A" uniqKey="Brooks A">A Brooks</name></author><author><name sortKey="Mancini, Gm" uniqKey="Mancini G">GM Mancini</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Perlman, Sj" uniqKey="Perlman S">SJ Perlman</name></author><author><name sortKey="Kulkarni, S" uniqKey="Kulkarni S">S Kulkarni</name></author><author><name sortKey="Manwaring, L" uniqKey="Manwaring L">L Manwaring</name></author><author><name sortKey="Shinawi, M" uniqKey="Shinawi M">M Shinawi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Poduri, A" uniqKey="Poduri A">A Poduri</name></author><author><name sortKey="Evrony, Gd" uniqKey="Evrony G">GD Evrony</name></author><author><name sortKey="Cai, X" uniqKey="Cai X">X Cai</name></author><author><name sortKey="Elhosary, Pc" uniqKey="Elhosary P">PC Elhosary</name></author><author><name sortKey="Beroukhim, R" uniqKey="Beroukhim R">R Beroukhim</name></author><author><name sortKey="Lehtinen, Mk" uniqKey="Lehtinen M">MK Lehtinen</name></author><author><name sortKey="Hills, Lb" uniqKey="Hills L">LB Hills</name></author><author><name sortKey="Heinzen, El" uniqKey="Heinzen E">EL Heinzen</name></author><author><name sortKey="Hill, A" uniqKey="Hill A">A Hill</name></author><author><name sortKey="Hill, Rs" uniqKey="Hill R">RS Hill</name></author><author><name sortKey="Barry, Bj" uniqKey="Barry B">BJ Barry</name></author><author><name sortKey="Bourgeois, Bf" uniqKey="Bourgeois B">BF Bourgeois</name></author><author><name sortKey="Riviello, Jj" uniqKey="Riviello J">JJ Riviello</name></author><author><name sortKey="Barkovich, Aj" uniqKey="Barkovich A">AJ Barkovich</name></author><author><name sortKey="Black, Pm" uniqKey="Black P">PM Black</name></author><author><name sortKey="Ligon, Kl" uniqKey="Ligon K">KL Ligon</name></author><author><name sortKey="Walsh, Ca" uniqKey="Walsh C">CA Walsh</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Rauch, A" uniqKey="Rauch A">A Rauch</name></author><author><name sortKey="Wieczorek, D" uniqKey="Wieczorek D">D Wieczorek</name></author><author><name sortKey="Graf, E" uniqKey="Graf E">E Graf</name></author><author><name sortKey="Wieland, T" uniqKey="Wieland T">T Wieland</name></author><author><name sortKey="Endele, S" uniqKey="Endele S">S Endele</name></author><author><name sortKey="Schwarzmayr, T" uniqKey="Schwarzmayr T">T Schwarzmayr</name></author><author><name sortKey="Albrecht, B" uniqKey="Albrecht B">B Albrecht</name></author><author><name sortKey="Bartholdi, D" uniqKey="Bartholdi D">D Bartholdi</name></author><author><name sortKey="Beygo, J" uniqKey="Beygo J">J Beygo</name></author><author><name sortKey="Di Donato, N" uniqKey="Di Donato N">N Di Donato</name></author><author><name sortKey="Dufke, A" uniqKey="Dufke A">A Dufke</name></author><author><name sortKey="Cremer, K" uniqKey="Cremer K">K Cremer</name></author><author><name sortKey="Hempel, M" uniqKey="Hempel M">M Hempel</name></author><author><name sortKey="Horn, D" uniqKey="Horn D">D Horn</name></author><author><name sortKey="Hoyer, J" uniqKey="Hoyer J">J Hoyer</name></author><author><name sortKey="Joset, P" uniqKey="Joset P">P Joset</name></author><author><name sortKey="Ropke, A" uniqKey="Ropke A">A Ropke</name></author><author><name sortKey="Moog, U" uniqKey="Moog U">U Moog</name></author><author><name sortKey="Riess, A" uniqKey="Riess A">A Riess</name></author><author><name sortKey="Thiel, Ct" uniqKey="Thiel C">CT Thiel</name></author><author><name sortKey="Tzschach, A" uniqKey="Tzschach A">A Tzschach</name></author><author><name sortKey="Wiesener, A" uniqKey="Wiesener A">A Wiesener</name></author><author><name sortKey="Wohlleber, E" uniqKey="Wohlleber E">E Wohlleber</name></author><author><name sortKey="Zweier, C" uniqKey="Zweier C">C Zweier</name></author><author><name sortKey="Ekici, Ab" uniqKey="Ekici A">AB Ekici</name></author><author><name sortKey="Zink, Am" uniqKey="Zink A">AM Zink</name></author><author><name sortKey="Rump, A" uniqKey="Rump A">A Rump</name></author><author><name sortKey="Meisinger, C" uniqKey="Meisinger C">C Meisinger</name></author><author><name sortKey="Grallert, H" uniqKey="Grallert H">H Grallert</name></author><author><name sortKey="Sticht, H" uniqKey="Sticht H">H Sticht</name></author><author><name sortKey="Schenck, A" uniqKey="Schenck A">A Schenck</name></author><author><name sortKey="Engels, H" uniqKey="Engels H">H Engels</name></author><author><name sortKey="Rappold, G" uniqKey="Rappold G">G Rappold</name></author><author><name sortKey="Schrock, E" uniqKey="Schrock E">E Schrock</name></author><author><name sortKey="Wieacker, P" uniqKey="Wieacker P">P Wieacker</name></author><author><name sortKey="Riess, O" uniqKey="Riess O">O Riess</name></author><author><name sortKey="Meitinger, T" uniqKey="Meitinger T">T Meitinger</name></author><author><name sortKey="Reis, A" uniqKey="Reis A">A Reis</name></author><author><name sortKey="Strom, Tm" uniqKey="Strom T">TM Strom</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Riviere, Jb" uniqKey="Riviere J">JB Riviere</name></author><author><name sortKey="Mirzaa, Gm" uniqKey="Mirzaa G">GM Mirzaa</name></author><author><name sortKey="O Oak, Bj" uniqKey="O Oak B">BJ O’Roak</name></author><author><name sortKey="Beddaoui, M" uniqKey="Beddaoui M">M Beddaoui</name></author><author><name sortKey="Alcantara, D" uniqKey="Alcantara D">D Alcantara</name></author><author><name sortKey="Conway, Rl" uniqKey="Conway R">RL Conway</name></author><author><name sortKey="St Onge, J" uniqKey="St Onge J">J St-Onge</name></author><author><name sortKey="Schwartzentruber, Ja" uniqKey="Schwartzentruber J">JA Schwartzentruber</name></author><author><name sortKey="Gripp, Kw" uniqKey="Gripp K">KW Gripp</name></author><author><name sortKey="Nikkel, Sm" uniqKey="Nikkel S">SM Nikkel</name></author><author><name sortKey="Worthylake, T" uniqKey="Worthylake T">T Worthylake</name></author><author><name sortKey="Sullivan, Ct" uniqKey="Sullivan C">CT Sullivan</name></author><author><name sortKey="Ward, Tr" uniqKey="Ward T">TR Ward</name></author><author><name sortKey="Butler, He" uniqKey="Butler H">HE Butler</name></author><author><name sortKey="Kramer, Na" uniqKey="Kramer N">NA Kramer</name></author><author><name sortKey="Albrecht, B" uniqKey="Albrecht B">B Albrecht</name></author><author><name sortKey="Armour, Cm" uniqKey="Armour C">CM Armour</name></author><author><name sortKey="Armstrong, L" uniqKey="Armstrong L">L Armstrong</name></author><author><name sortKey="Caluseriu, O" uniqKey="Caluseriu O">O Caluseriu</name></author><author><name sortKey="Cytrynbaum, C" uniqKey="Cytrynbaum C">C Cytrynbaum</name></author><author><name sortKey="Drolet, Ba" uniqKey="Drolet B">BA Drolet</name></author><author><name sortKey="Innes, Am" uniqKey="Innes A">AM Innes</name></author><author><name sortKey="Lauzon, Jl" uniqKey="Lauzon J">JL Lauzon</name></author><author><name sortKey="Lin, Ae" uniqKey="Lin A">AE Lin</name></author><author><name sortKey="Mancini, Gm" uniqKey="Mancini G">GM Mancini</name></author><author><name sortKey="Meschino, Ws" uniqKey="Meschino W">WS Meschino</name></author><author><name sortKey="Reggin, Jd" uniqKey="Reggin J">JD Reggin</name></author><author><name sortKey="Saggar, Ak" uniqKey="Saggar A">AK Saggar</name></author><author><name sortKey="Lerman Sagie, T" uniqKey="Lerman Sagie T">T Lerman-Sagie</name></author><author><name sortKey="Uyanik, G" uniqKey="Uyanik G">G Uyanik</name></author><author><name sortKey="Weksberg, R" uniqKey="Weksberg R">R Weksberg</name></author><author><name sortKey="Zirn, B" uniqKey="Zirn B">B Zirn</name></author><author><name sortKey="Beaulieu, Cl" uniqKey="Beaulieu C">CL Beaulieu</name></author><author><name sortKey="Majewski, J" uniqKey="Majewski J">J Majewski</name></author><author><name sortKey="Bulman, De" uniqKey="Bulman D">DE Bulman</name></author><author><name sortKey="O Riscoll, M" uniqKey="O Riscoll M">M O’Driscoll</name></author><author><name sortKey="Shendure, J" uniqKey="Shendure J">J Shendure</name></author><author><name sortKey="Graham, Jm" uniqKey="Graham J">JM Graham</name></author><author><name sortKey="Boycott, Km" uniqKey="Boycott K">KM Boycott</name></author><author><name sortKey="Dobyns, Wb" uniqKey="Dobyns W">WB Dobyns</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Roshon, Mj" uniqKey="Roshon M">MJ Roshon</name></author><author><name sortKey="Ruley, He" uniqKey="Ruley H">HE Ruley</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Sobreira, N" uniqKey="Sobreira N">N Sobreira</name></author><author><name sortKey="Schiettecatte, F" uniqKey="Schiettecatte F">F Schiettecatte</name></author><author><name sortKey="Valle, D" uniqKey="Valle D">D Valle</name></author><author><name sortKey="Hamosh, A" uniqKey="Hamosh A">A Hamosh</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Szklarczyk, R" uniqKey="Szklarczyk R">R Szklarczyk</name></author><author><name sortKey="Wanschers, Bf" uniqKey="Wanschers B">BF Wanschers</name></author><author><name sortKey="Nijtmans, Lg" uniqKey="Nijtmans L">LG Nijtmans</name></author><author><name sortKey="Rodenburg, Rj" uniqKey="Rodenburg R">RJ Rodenburg</name></author><author><name sortKey="Zschocke, J" uniqKey="Zschocke J">J Zschocke</name></author><author><name sortKey="Dikow, N" uniqKey="Dikow N">N Dikow</name></author><author><name sortKey="Van Den Brand, Ma" uniqKey="Van Den Brand M">MA van den Brand</name></author><author><name sortKey="Hendriks Franssen, Mg" uniqKey="Hendriks Franssen M">MG Hendriks-Franssen</name></author><author><name sortKey="Gilissen, C" uniqKey="Gilissen C">C Gilissen</name></author><author><name sortKey="Veltman, Ja" uniqKey="Veltman J">JA Veltman</name></author><author><name sortKey="Nooteboom, M" uniqKey="Nooteboom M">M Nooteboom</name></author><author><name sortKey="Koopman, Wj" uniqKey="Koopman W">WJ Koopman</name></author><author><name sortKey="Willems, Ph" uniqKey="Willems P">PH Willems</name></author><author><name sortKey="Smeitink, Ja" uniqKey="Smeitink J">JA Smeitink</name></author><author><name sortKey="Huynen, Ma" uniqKey="Huynen M">MA Huynen</name></author><author><name sortKey="Van Den Heuvel, Lp" uniqKey="Van Den Heuvel L">LP van den Heuvel</name></author></analytic></biblStruct><biblStruct></biblStruct><biblStruct><analytic><author><name sortKey="Thierry, G" uniqKey="Thierry G">G Thierry</name></author><author><name sortKey="Beneteau, C" uniqKey="Beneteau C">C Beneteau</name></author><author><name sortKey="Pichon, O" uniqKey="Pichon O">O Pichon</name></author><author><name sortKey="Flori, E" uniqKey="Flori E">E Flori</name></author><author><name sortKey="Isidor, B" uniqKey="Isidor B">B Isidor</name></author><author><name sortKey="Popelard, F" uniqKey="Popelard F">F Popelard</name></author><author><name sortKey="Delrue, Ma" uniqKey="Delrue M">MA Delrue</name></author><author><name sortKey="Duboscq Bidot, L" uniqKey="Duboscq Bidot L">L Duboscq-Bidot</name></author><author><name sortKey="Thuresson, Ac" uniqKey="Thuresson A">AC Thuresson</name></author><author><name sortKey="Van Bon, Bw" uniqKey="Van Bon B">BW van Bon</name></author><author><name sortKey="Cailley, D" uniqKey="Cailley D">D Cailley</name></author><author><name sortKey="Rooryck, C" uniqKey="Rooryck C">C Rooryck</name></author><author><name sortKey="Paubel, A" uniqKey="Paubel A">A Paubel</name></author><author><name sortKey="Metay, C" uniqKey="Metay C">C Metay</name></author><author><name sortKey="Dusser, A" uniqKey="Dusser A">A Dusser</name></author><author><name sortKey="Pasquier, L" uniqKey="Pasquier L">L Pasquier</name></author><author><name sortKey="Beri, M" uniqKey="Beri M">M Beri</name></author><author><name sortKey="Bonnet, C" uniqKey="Bonnet C">C Bonnet</name></author><author><name sortKey="Jaillard, S" uniqKey="Jaillard S">S Jaillard</name></author><author><name sortKey="Dubourg, C" uniqKey="Dubourg C">C Dubourg</name></author><author><name sortKey="Tou, B" uniqKey="Tou B">B Tou</name></author><author><name sortKey="Quere, Mp" uniqKey="Quere M">MP Quere</name></author><author><name sortKey="Soussi Zander, C" uniqKey="Soussi Zander C">C Soussi-Zander</name></author><author><name sortKey="Toutain, A" uniqKey="Toutain A">A Toutain</name></author><author><name sortKey="Lacombe, D" uniqKey="Lacombe D">D Lacombe</name></author><author><name sortKey="Arveiler, B" uniqKey="Arveiler B">B Arveiler</name></author><author><name sortKey="De Vries, Bb" uniqKey="De Vries B">BB de Vries</name></author><author><name sortKey="Jonveaux, P" uniqKey="Jonveaux P">P Jonveaux</name></author><author><name sortKey="David, A" uniqKey="David A">A David</name></author><author><name sortKey="Le Caignec, C" uniqKey="Le Caignec C">C Le Caignec</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wang, D" uniqKey="Wang D">D Wang</name></author><author><name sortKey="Zeesman, S" uniqKey="Zeesman S">S Zeesman</name></author><author><name sortKey="Tarnopolsky, Ma" uniqKey="Tarnopolsky M">MA Tarnopolsky</name></author><author><name sortKey="Nowaczyk, Mj" uniqKey="Nowaczyk M">MJ Nowaczyk</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Xiang, C" uniqKey="Xiang C">C Xiang</name></author><author><name sortKey="Baubet, V" uniqKey="Baubet V">V Baubet</name></author><author><name sortKey="Pal, S" uniqKey="Pal S">S Pal</name></author><author><name sortKey="Holderbaum, L" uniqKey="Holderbaum L">L Holderbaum</name></author><author><name sortKey="Tatard, V" uniqKey="Tatard V">V Tatard</name></author><author><name sortKey="Jiang, P" uniqKey="Jiang P">P Jiang</name></author><author><name sortKey="Davuluri, Rv" uniqKey="Davuluri R">RV Davuluri</name></author><author><name sortKey="Dahmane, N" uniqKey="Dahmane N">N Dahmane</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ye, J" uniqKey="Ye J">J Ye</name></author><author><name sortKey="Beetz, N" uniqKey="Beetz N">N Beetz</name></author><author><name sortKey="O Eeffe, S" uniqKey="O Eeffe S">S O’Keeffe</name></author><author><name sortKey="Tapia, Jc" uniqKey="Tapia J">JC Tapia</name></author><author><name sortKey="Macpherson, L" uniqKey="Macpherson L">L Macpherson</name></author><author><name sortKey="Chen, Wv" uniqKey="Chen W">WV Chen</name></author><author><name sortKey="Bassel Duby, R" uniqKey="Bassel Duby R">R Bassel-Duby</name></author><author><name sortKey="Olson, En" uniqKey="Olson E">EN Olson</name></author><author><name sortKey="Maniatis, T" uniqKey="Maniatis T">T Maniatis</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Zaki, Ms" uniqKey="Zaki M">MS Zaki</name></author><author><name sortKey="Gillessen Kaesbach, G" uniqKey="Gillessen Kaesbach G">G Gillessen-Kaesbach</name></author><author><name sortKey="Vater, I" uniqKey="Vater I">I Vater</name></author><author><name sortKey="Caliebe, A" uniqKey="Caliebe A">A Caliebe</name></author><author><name sortKey="Siebert, R" uniqKey="Siebert R">R Siebert</name></author><author><name sortKey="Kamel, Ak" uniqKey="Kamel A">AK Kamel</name></author><author><name sortKey="Mohamed, Am" uniqKey="Mohamed A">AM Mohamed</name></author><author><name sortKey="Mazen, I" uniqKey="Mazen I">I Mazen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Zhu, X" uniqKey="Zhu X">X Zhu</name></author><author><name sortKey="Petrovski, S" uniqKey="Petrovski S">S Petrovski</name></author><author><name sortKey="Xie, P" uniqKey="Xie P">P Xie</name></author><author><name sortKey="Ruzzo, Ek" uniqKey="Ruzzo E">EK Ruzzo</name></author><author><name sortKey="Lu, Yf" uniqKey="Lu Y">YF Lu</name></author><author><name sortKey="Mcsweeney, Km" uniqKey="Mcsweeney K">KM McSweeney</name></author><author><name sortKey="Ben Zeev, B" uniqKey="Ben Zeev B">B Ben-Zeev</name></author><author><name sortKey="Nissenkorn, A" uniqKey="Nissenkorn A">A Nissenkorn</name></author><author><name sortKey="Anikster, Y" uniqKey="Anikster Y">Y Anikster</name></author><author><name sortKey="Oz Levi, D" uniqKey="Oz Levi D">D Oz-Levi</name></author><author><name sortKey="Dhindsa, Rs" uniqKey="Dhindsa R">RS Dhindsa</name></author><author><name sortKey="Hitomi, Y" uniqKey="Hitomi Y">Y Hitomi</name></author><author><name sortKey="Schoch, K" uniqKey="Schoch K">K Schoch</name></author><author><name sortKey="Spillmann, Rc" uniqKey="Spillmann R">RC Spillmann</name></author><author><name sortKey="Heimer, G" uniqKey="Heimer G">G Heimer</name></author><author><name sortKey="Marek Yagel, D" uniqKey="Marek Yagel D">D Marek-Yagel</name></author><author><name sortKey="Tzadok, M" uniqKey="Tzadok M">M Tzadok</name></author><author><name sortKey="Han, Y" uniqKey="Han Y">Y Han</name></author><author><name sortKey="Worley, G" uniqKey="Worley G">G Worley</name></author><author><name sortKey="Goldstein, J" uniqKey="Goldstein J">J Goldstein</name></author><author><name sortKey="Jiang, Yh" uniqKey="Jiang Y">YH Jiang</name></author><author><name sortKey="Lancet, D" uniqKey="Lancet D">D Lancet</name></author><author><name sortKey="Pras, E" uniqKey="Pras E">E Pras</name></author><author><name sortKey="Shashi, V" uniqKey="Shashi V">V Shashi</name></author><author><name sortKey="Mchale, D" uniqKey="Mchale D">D McHale</name></author><author><name sortKey="Need, Ac" uniqKey="Need A">AC Need</name></author><author><name sortKey="Goldstein, Db" uniqKey="Goldstein D">DB Goldstein</name></author></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Hum. Genet</journal-id><journal-title-group><journal-title>Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0340-6717</issn><issn pub-type="epub">1432-1203</issn><publisher><publisher-name>Springer Berlin Heidelberg</publisher-name><publisher-loc>Berlin/Heidelberg</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">28283832</article-id><article-id pub-id-type="pmc">5360844</article-id><article-id pub-id-type="publisher-id">1772</article-id><article-id pub-id-type="doi">10.1007/s00439-017-1772-0</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original Investigation</subject></subj-group></article-categories><title-group><article-title>Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in <italic>ZBTB18</italic> and <italic>HNRNPU</italic></article-title></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name><surname>Depienne</surname><given-names>Christel</given-names></name><address><email>depiennc@igbmc.fr</email></address><xref ref-type="aff" rid="Aff1">1</xref><xref ref-type="aff" rid="Aff2">2</xref><xref ref-type="aff" rid="Aff3">3</xref><xref ref-type="aff" rid="Aff4">4</xref><xref ref-type="aff" rid="Aff55">55</xref></contrib><contrib contrib-type="author"><name><surname>Nava</surname><given-names>Caroline</given-names></name><xref ref-type="aff" rid="Aff3">3</xref><xref ref-type="aff" rid="Aff4">4</xref><xref ref-type="aff" rid="Aff55">55</xref></contrib><contrib contrib-type="author"><name><surname>Keren</surname><given-names>Boris</given-names></name><xref ref-type="aff" rid="Aff3">3</xref><xref ref-type="aff" rid="Aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Heide</surname><given-names>Solveig</given-names></name><xref ref-type="aff" rid="Aff4">4</xref><xref ref-type="aff" rid="Aff5">5</xref></contrib><contrib contrib-type="author"><name><surname>Rastetter</surname><given-names>Agnès</given-names></name><xref ref-type="aff" rid="Aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Passemard</surname><given-names>Sandrine</given-names></name><xref ref-type="aff" rid="Aff6">6</xref><xref ref-type="aff" rid="Aff7">7</xref><xref ref-type="aff" rid="Aff8">8</xref></contrib><contrib contrib-type="author"><name><surname>Chantot-Bastaraud</surname><given-names>Sandra</given-names></name><xref ref-type="aff" rid="Aff9">9</xref></contrib><contrib contrib-type="author"><name><surname>Moutard</surname><given-names>Marie-Laure</given-names></name><xref ref-type="aff" rid="Aff10">10</xref><xref ref-type="aff" rid="Aff11">11</xref><xref ref-type="aff" rid="Aff12">12</xref></contrib><contrib contrib-type="author"><name><surname>Agrawal</surname><given-names>Pankaj B.</given-names></name><xref ref-type="aff" rid="Aff13">13</xref></contrib><contrib contrib-type="author"><name><surname>VanNoy</surname><given-names>Grace</given-names></name><xref ref-type="aff" rid="Aff13">13</xref></contrib><contrib contrib-type="author"><name><surname>Stoler</surname><given-names>Joan M.</given-names></name><xref ref-type="aff" rid="Aff13">13</xref></contrib><contrib contrib-type="author"><name><surname>Amor</surname><given-names>David J.</given-names></name><xref ref-type="aff" rid="Aff14">14</xref><xref ref-type="aff" rid="Aff15">15</xref></contrib><contrib contrib-type="author"><name><surname>Billette de Villemeur</surname><given-names>Thierry</given-names></name><xref ref-type="aff" rid="Aff8">8</xref><xref ref-type="aff" rid="Aff10">10</xref><xref ref-type="aff" rid="Aff11">11</xref><xref ref-type="aff" rid="Aff16">16</xref></contrib><contrib contrib-type="author"><name><surname>Doummar</surname><given-names>Diane</given-names></name><xref ref-type="aff" rid="Aff10">10</xref><xref ref-type="aff" rid="Aff12">12</xref></contrib><contrib contrib-type="author"><name><surname>Alby</surname><given-names>Caroline</given-names></name><xref ref-type="aff" rid="Aff17">17</xref><xref ref-type="aff" rid="Aff19">19</xref></contrib><contrib contrib-type="author"><name><surname>Cormier-Daire</surname><given-names>Valérie</given-names></name><xref ref-type="aff" rid="Aff18">18</xref><xref ref-type="aff" rid="Aff19">19</xref></contrib><contrib contrib-type="author"><name><surname>Garel</surname><given-names>Catherine</given-names></name><xref ref-type="aff" rid="Aff20">20</xref></contrib><contrib contrib-type="author"><name><surname>Marzin</surname><given-names>Pauline</given-names></name><xref ref-type="aff" rid="Aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Scheidecker</surname><given-names>Sophie</given-names></name><xref ref-type="aff" rid="Aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>de Saint-Martin</surname><given-names>Anne</given-names></name><xref ref-type="aff" rid="Aff1">1</xref><xref ref-type="aff" rid="Aff21">21</xref></contrib><contrib contrib-type="author"><name><surname>Hirsch</surname><given-names>Edouard</given-names></name><xref ref-type="aff" rid="Aff1">1</xref><xref ref-type="aff" rid="Aff22">22</xref></contrib><contrib contrib-type="author"><name><surname>Korff</surname><given-names>Christian</given-names></name><xref ref-type="aff" rid="Aff23">23</xref></contrib><contrib contrib-type="author"><name><surname>Bottani</surname><given-names>Armand</given-names></name><xref ref-type="aff" rid="Aff24">24</xref></contrib><contrib contrib-type="author"><name><surname>Faivre</surname><given-names>Laurence</given-names></name><xref ref-type="aff" rid="Aff25">25</xref><xref ref-type="aff" rid="Aff26">26</xref></contrib><contrib contrib-type="author"><name><surname>Verloes</surname><given-names>Alain</given-names></name><xref ref-type="aff" rid="Aff7">7</xref></contrib><contrib contrib-type="author"><name><surname>Orzechowski</surname><given-names>Christine</given-names></name><xref ref-type="aff" rid="Aff27">27</xref></contrib><contrib contrib-type="author"><name><surname>Burglen</surname><given-names>Lydie</given-names></name><xref ref-type="aff" rid="Aff8">8</xref><xref ref-type="aff" rid="Aff28">28</xref><xref ref-type="aff" rid="Aff29">29</xref></contrib><contrib contrib-type="author"><name><surname>Leheup</surname><given-names>Bruno</given-names></name><xref ref-type="aff" rid="Aff30">30</xref></contrib><contrib contrib-type="author"><name><surname>Roume</surname><given-names>Joelle</given-names></name><xref ref-type="aff" rid="Aff31">31</xref></contrib><contrib contrib-type="author"><name><surname>Andrieux</surname><given-names>Joris</given-names></name><xref ref-type="aff" rid="Aff32">32</xref></contrib><contrib contrib-type="author"><name><surname>Sheth</surname><given-names>Frenny</given-names></name><xref ref-type="aff" rid="Aff33">33</xref></contrib><contrib contrib-type="author"><name><surname>Datar</surname><given-names>Chaitanya</given-names></name><xref ref-type="aff" rid="Aff34">34</xref></contrib><contrib contrib-type="author"><name><surname>Parker</surname><given-names>Michael J.</given-names></name><xref ref-type="aff" rid="Aff35">35</xref></contrib><contrib contrib-type="author"><name><surname>Pasquier</surname><given-names>Laurent</given-names></name><xref ref-type="aff" rid="Aff36">36</xref></contrib><contrib contrib-type="author"><name><surname>Odent</surname><given-names>Sylvie</given-names></name><xref ref-type="aff" rid="Aff36">36</xref><xref ref-type="aff" rid="Aff37">37</xref><xref ref-type="aff" rid="Aff38">38</xref></contrib><contrib contrib-type="author"><name><surname>Naudion</surname><given-names>Sophie</given-names></name><xref ref-type="aff" rid="Aff39">39</xref></contrib><contrib contrib-type="author"><name><surname>Delrue</surname><given-names>Marie-Ange</given-names></name><xref ref-type="aff" rid="Aff39">39</xref><xref ref-type="aff" rid="Aff40">40</xref></contrib><contrib contrib-type="author"><name><surname>Le Caignec</surname><given-names>Cédric</given-names></name><xref ref-type="aff" rid="Aff41">41</xref><xref ref-type="aff" rid="Aff42">42</xref></contrib><contrib contrib-type="author"><name><surname>Vincent</surname><given-names>Marie</given-names></name><xref ref-type="aff" rid="Aff41">41</xref></contrib><contrib contrib-type="author"><name><surname>Isidor</surname><given-names>Bertrand</given-names></name><xref ref-type="aff" rid="Aff41">41</xref><xref ref-type="aff" rid="Aff42">42</xref></contrib><contrib contrib-type="author"><name><surname>Renaldo</surname><given-names>Florence</given-names></name><xref ref-type="aff" rid="Aff6">6</xref><xref ref-type="aff" rid="Aff10">10</xref></contrib><contrib contrib-type="author"><name><surname>Stewart</surname><given-names>Fiona</given-names></name><xref ref-type="aff" rid="Aff43">43</xref></contrib><contrib contrib-type="author"><name><surname>Toutain</surname><given-names>Annick</given-names></name><xref ref-type="aff" rid="Aff44">44</xref></contrib><contrib contrib-type="author"><name><surname>Koehler</surname><given-names>Udo</given-names></name><xref ref-type="aff" rid="Aff45">45</xref></contrib><contrib contrib-type="author"><name><surname>Häckl</surname><given-names>Birgit</given-names></name><xref ref-type="aff" rid="Aff46">46</xref></contrib><contrib contrib-type="author"><name><surname>von Stülpnagel</surname><given-names>Celina</given-names></name><xref ref-type="aff" rid="Aff46">46</xref></contrib><contrib contrib-type="author"><name><surname>Kluger</surname><given-names>Gerhard</given-names></name><xref ref-type="aff" rid="Aff46">46</xref><xref ref-type="aff" rid="Aff47">47</xref></contrib><contrib contrib-type="author"><name><surname>Møller</surname><given-names>Rikke S.</given-names></name><xref ref-type="aff" rid="Aff48">48</xref><xref ref-type="aff" rid="Aff49">49</xref><xref ref-type="aff" rid="Aff55">55</xref></contrib><contrib contrib-type="author"><name><surname>Pal</surname><given-names>Deb</given-names></name><xref ref-type="aff" rid="Aff50">50</xref><xref ref-type="aff" rid="Aff55">55</xref></contrib><contrib contrib-type="author"><name><surname>Jonson</surname><given-names>Tord</given-names></name><xref ref-type="aff" rid="Aff51">51</xref></contrib><contrib contrib-type="author"><name><surname>Soller</surname><given-names>Maria</given-names></name><xref ref-type="aff" rid="Aff52">52</xref></contrib><contrib contrib-type="author"><name><surname>Verbeek</surname><given-names>Nienke E.</given-names></name><xref ref-type="aff" rid="Aff53">53</xref></contrib><contrib contrib-type="author"><name><surname>van Haelst</surname><given-names>Mieke M.</given-names></name><xref ref-type="aff" rid="Aff53">53</xref></contrib><contrib contrib-type="author"><name><surname>de Kovel</surname><given-names>Carolien</given-names></name><xref ref-type="aff" rid="Aff53">53</xref></contrib><contrib contrib-type="author"><name><surname>Koeleman</surname><given-names>Bobby</given-names></name><xref ref-type="aff" rid="Aff53">53</xref><xref ref-type="aff" rid="Aff54">54</xref><xref ref-type="aff" rid="Aff55">55</xref></contrib><contrib contrib-type="author"><name><surname>Monroe</surname><given-names>Glen</given-names></name><xref ref-type="aff" rid="Aff53">53</xref><xref ref-type="aff" rid="Aff54">54</xref></contrib><contrib contrib-type="author"><name><surname>van Haaften</surname><given-names>Gijs</given-names></name><xref ref-type="aff" rid="Aff53">53</xref><xref ref-type="aff" rid="Aff54">54</xref></contrib><contrib contrib-type="author"><collab>DDD Study</collab><xref ref-type="aff" rid="Aff56">56</xref></contrib><contrib contrib-type="author"><name><surname>Attié-Bitach</surname><given-names>Tania</given-names></name><xref ref-type="aff" rid="Aff17">17</xref><xref ref-type="aff" rid="Aff19">19</xref></contrib><contrib contrib-type="author"><name><surname>Boutaud</surname><given-names>Lucile</given-names></name><xref ref-type="aff" rid="Aff17">17</xref><xref ref-type="aff" rid="Aff19">19</xref></contrib><contrib contrib-type="author"><name><surname>Héron</surname><given-names>Delphine</given-names></name><xref ref-type="aff" rid="Aff4">4</xref><xref ref-type="aff" rid="Aff5">5</xref><xref ref-type="aff" rid="Aff16">16</xref></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Mignot</surname><given-names>Cyril</given-names></name><address><email>cyril.mignot@aphp.fr</email></address><xref ref-type="aff" rid="Aff4">4</xref><xref ref-type="aff" rid="Aff5">5</xref><xref ref-type="aff" rid="Aff16">16</xref><xref ref-type="aff" rid="Aff55">55</xref></contrib><aff id="Aff1"><label>1</label>IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67400 Illkirch, France</aff><aff id="Aff2"><label>2</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2177 138X</institution-id><institution-id institution-id-type="GRID">grid.412220.7</institution-id><institution>Laboratoires de Génétique, Institut de Génétique médicale d’Alsace,</institution><institution>Hôpitaux Universitaires de Strasbourg,</institution></institution-wrap>67000 Strasbourg, France</aff><aff id="Aff3"><label>3</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2308 1657</institution-id><institution-id institution-id-type="GRID">grid.462844.8</institution-id><institution>INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM,</institution><institution>Sorbonne Universités,</institution></institution-wrap>UPMC Univ Paris 06 UMR S 1127, 75013 Paris, France</aff><aff id="Aff4"><label>4</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 9058</institution-id><institution-id institution-id-type="GRID">grid.411439.a</institution-id><institution></institution><institution>AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique,</institution></institution-wrap>75013 Paris, France</aff><aff id="Aff5"><label>5</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2150 9058</institution-id><institution-id institution-id-type="GRID">grid.411439.a</institution-id><institution></institution><institution>Groupe de Recherche Clinique (GRC) “déficience intellectuelle et autisme” UPMC, Groupe Hospitalier Pitié-Salpêtrière,</institution></institution-wrap>75013 Paris, France</aff><aff id="Aff6"><label>6</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0589</institution-id><institution-id institution-id-type="GRID">grid.413235.2</institution-id><institution></institution><institution>AP-HP, Department of Child Neurology, Hôpital Robert Debré,</institution></institution-wrap>Paris, France</aff><aff id="Aff7"><label>7</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0589</institution-id><institution-id institution-id-type="GRID">grid.413235.2</institution-id><institution></institution><institution>AP-HP, Department of Genetics, Hôpital Robert Debré,</institution></institution-wrap>Paris, France</aff><aff id="Aff8"><label>8</label>INSERM UMR U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France</aff><aff id="Aff9"><label>9</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id><institution-id institution-id-type="GRID">grid.413776.0</institution-id><institution></institution><institution>AP-HP, Département de Génétique Médicale, Unité fonctionnelle de Génétique Chromosomique, CHU Paris Est, Hôpital d’Enfants Armand-Trousseau,</institution></institution-wrap>75571 Paris, France</aff><aff id="Aff10"><label>10</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id><institution-id institution-id-type="GRID">grid.413776.0</institution-id><institution></institution><institution>AP-HP, Service de Neuropédiatrie, Hôpital Trousseau,</institution></institution-wrap>75012 Paris, France</aff><aff id="Aff11"><label>11</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2308 1657</institution-id><institution-id institution-id-type="GRID">grid.462844.8</institution-id><institution>UPMC, GRC ConCer-LD,</institution><institution>Sorbonne Université,</institution></institution-wrap>Paris, France</aff><aff id="Aff12"><label>12</label>Centre de Référence des Maladies Neurogénétiques de l’Enfant et de l’Adolescent, Paris, France</aff><aff id="Aff13"><label>13</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0378 8438</institution-id><institution-id institution-id-type="GRID">grid.2515.3</institution-id><institution>Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research,</institution><institution>Boston Children’s Hospital and Harvard Medical School,</institution></institution-wrap>Boston, MA 02115 USA</aff><aff id="Aff14"><label>14</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0614 0346</institution-id><institution-id institution-id-type="GRID">grid.416107.5</institution-id><institution>Murdoch Childrens Research Institute,</institution><institution>Royal Children’s Hospital,</institution></institution-wrap>Parkville, VIC 3052 Australia</aff><aff id="Aff15"><label>15</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2179 088X</institution-id><institution-id institution-id-type="GRID">grid.1008.9</institution-id><institution>Department of Paediatrics,</institution><institution>University of Melbourne,</institution></institution-wrap>Parkville, VIC 3052 Australia</aff><aff id="Aff16"><label>16</label>Centre de Référence “déficiences intellectuelles de causes rares”, Paris, France</aff><aff id="Aff17"><label>17</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2188 0914</institution-id><institution-id institution-id-type="GRID">grid.10992.33</institution-id><institution>INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations,</institution><institution>Sorbonne Paris Cité and Imagine Institute, Paris Descartes University,</institution></institution-wrap>75015 Paris, France</aff><aff id="Aff18"><label>18</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2188 0914</institution-id><institution-id institution-id-type="GRID">grid.10992.33</institution-id><institution>INSERM U1163, Laboratory of Molecular and Physiopathological bases of osteochondrodysplasia, Sorbonne Paris Cité and Imagine Institute,</institution><institution>Paris Descartes University,</institution></institution-wrap>75015 Paris, France</aff><aff id="Aff19"><label>19</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0593 9113</institution-id><institution-id institution-id-type="GRID">grid.412134.1</institution-id><institution></institution><institution>AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades,</institution></institution-wrap>75015 Paris, France</aff><aff id="Aff20"><label>20</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id><institution-id institution-id-type="GRID">grid.413776.0</institution-id><institution></institution><institution>AP-HP, GHUEP, Service de Radiologie, Hôpital Armand-Trousseau,</institution></institution-wrap>75012 Paris, France</aff><aff id="Aff21"><label>21</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2177 138X</institution-id><institution-id institution-id-type="GRID">grid.412220.7</institution-id><institution>Pediatric Neurology Department, Hautepierre Hospital,</institution><institution>Strasbourg University Hospital,</institution></institution-wrap>Strasbourg, France</aff><aff id="Aff22"><label>22</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2177 138X</institution-id><institution-id institution-id-type="GRID">grid.412220.7</institution-id><institution>Medical and Surgical Epilepsy Unit, Hautepierre Hospital,</institution><institution>Strasbourg University Hospital,</institution></institution-wrap>Strasbourg, France</aff><aff id="Aff23"><label>23</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0721 9812</institution-id><institution-id institution-id-type="GRID">grid.150338.c</institution-id><institution>Département de l’Enfant et de l’Adolescent, Neuropédiatrie,</institution><institution>Hôpitaux Universitaires de Genève,</institution></institution-wrap>Geneva, Switzerland</aff><aff id="Aff24"><label>24</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0721 9812</institution-id><institution-id institution-id-type="GRID">grid.150338.c</institution-id><institution>Service de Médecine génétique,</institution><institution>Hôpitaux Universitaires de Genève,</institution></institution-wrap>Geneva, Switzerland</aff><aff id="Aff25"><label>25</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2298 9313</institution-id><institution-id institution-id-type="GRID">grid.5613.1</institution-id><institution>Equipe d’Accueil 4271, Génétique des Anomalies du Développement,</institution><institution>Université de Bourgogne,</institution></institution-wrap>21079 Dijon, France</aff><aff id="Aff26"><label>26</label><institution-wrap><institution-id institution-id-type="GRID">grid.31151.37</institution-id><institution>Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l’Interrégion Est,</institution><institution>Centre Hospitalier Universitaire Dijon,</institution></institution-wrap>21079 Dijon, France</aff><aff id="Aff27"><label>27</label>Service de Pédiatrie, Hôpital Saint-Camille Bry-sur-Marne, Le Chesnay, France</aff><aff id="Aff28"><label>28</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id><institution-id institution-id-type="GRID">grid.413776.0</institution-id><institution>AP-HP, Service de Génétique,</institution><institution>Hôpital Trousseau,</institution></institution-wrap>75012 Paris, France</aff><aff id="Aff29"><label>29</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 1098</institution-id><institution-id institution-id-type="GRID">grid.413776.0</institution-id><institution>Centre de Référence des Malformations et Maladies Congénitales du Cervelet,</institution><institution>Hôpital Trousseau,</institution></institution-wrap>75012 Paris, France</aff><aff id="Aff30"><label>30</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1765 1301</institution-id><institution-id institution-id-type="GRID">grid.410527.5</institution-id><institution></institution><institution>Service de génétique clinique, Hôpital de Brabois, CHU de Nancy,</institution></institution-wrap>Nancy, France</aff><aff id="Aff31"><label>31</label>Department of Genetics, Poissy-Saint-Germain-en-Laye Hospital, Poissy, France</aff><aff id="Aff32"><label>32</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0471 8845</institution-id><institution-id institution-id-type="GRID">grid.410463.4</institution-id><institution>Institut de Génétique Médicale,</institution><institution>CHRU de Lille,</institution></institution-wrap>Lille, France</aff><aff id="Aff33"><label>33</label>Department of Cytogenetics and Molecular Cytogenetics, FRIGE’s Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India</aff><aff id="Aff34"><label>34</label>Sahyadari Medical Genetics and Tissue engineering facility (SMGTEF), Pune, 411005 India</aff><aff id="Aff35"><label>35</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0641 5987</institution-id><institution-id institution-id-type="GRID">grid.412937.a</institution-id><institution>Sheffield Clinical Genetics Service, OPD2,</institution><institution>Northern General Hospital,</institution></institution-wrap>Herries Road, Sheffield, S5 7AU UK</aff><aff id="Aff36"><label>36</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2175 0984</institution-id><institution-id institution-id-type="GRID">grid.411154.4</institution-id><institution>Service de Génétique Clinique,</institution><institution>CHU de Rennes,</institution></institution-wrap>Rennes, France</aff><aff id="Aff37"><label>37</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2175 0984</institution-id><institution-id institution-id-type="GRID">grid.411154.4</institution-id><institution>Centre de référence CLAD-Ouest,</institution><institution>CHU Rennes,</institution></institution-wrap>Rennes, France</aff><aff id="Aff38"><label>38</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2191 9284</institution-id><institution-id institution-id-type="GRID">grid.410368.8</institution-id><institution>UMR 6290 CNRS, IGDR Institut de Génétique et développement de Rennes,</institution><institution>Université de Rennes 1,</institution></institution-wrap>Rennes, France</aff><aff id="Aff39"><label>39</label><institution-wrap><institution-id institution-id-type="GRID">grid.414263.6</institution-id><institution>Service de Génétique Médicale,</institution><institution>Hôpital Pellegrin, CHU Bordeaux,</institution></institution-wrap>Bordeaux, France</aff><aff id="Aff40"><label>40</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0593 7118</institution-id><institution-id institution-id-type="GRID">grid.42399.35</institution-id><institution>Centre de Référence des Anomalies du Développement Embryonnaire,</institution><institution>CHU Bordeaux,</institution></institution-wrap>Bordeaux, France</aff><aff id="Aff41"><label>41</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0472 0371</institution-id><institution-id institution-id-type="GRID">grid.277151.7</institution-id><institution></institution><institution>Service de Génétique Médicale, CHU de Nantes,</institution></institution-wrap>Nantes, France</aff><aff id="Aff42"><label>42</label>Faculté de Médecine, INSERM, UMR 957, Physiopathologie de la résorption osseuse et des tumeurs osseuses primitives, Université, Nantes, France</aff><aff id="Aff43"><label>43</label>Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Ireland</aff><aff id="Aff44"><label>44</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1765 1600</institution-id><institution-id institution-id-type="GRID">grid.411167.4</institution-id><institution>Service de Génétique Médicale,</institution><institution>CHU Tours,</institution></institution-wrap>Tours, France</aff><aff id="Aff45"><label>45</label>Medizinisch Genetisches Zentrum, 80335 Munich, Germany</aff><aff id="Aff46"><label>46</label>Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569 Vogtareuth, Germany</aff><aff id="Aff47"><label>47</label>PMU Salzburg, Salzburg, Austria</aff><aff id="Aff48"><label>48</label><institution-wrap><institution-id institution-id-type="GRID">grid.452376.1</institution-id><institution></institution><institution>The Danish Epilepsy Centre,</institution></institution-wrap>Dianalund, Denmark</aff><aff id="Aff49"><label>49</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0728 0170</institution-id><institution-id institution-id-type="GRID">grid.10825.3e</institution-id><institution>Institute for Regional Health Services,</institution><institution>University of Southern Denmark,</institution></institution-wrap>Odense, Denmark</aff><aff id="Aff50"><label>50</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2322 6764</institution-id><institution-id institution-id-type="GRID">grid.13097.3c</institution-id><institution>Department of Clinical Neuroscience, Institute of Psychiatry,</institution><institution>King’s College London,</institution></institution-wrap>London, UK</aff><aff id="Aff51"><label>51</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 0930 2361</institution-id><institution-id institution-id-type="GRID">grid.4514.4</institution-id><institution>Department of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital,</institution><institution>Lund University,</institution></institution-wrap>Lund, Sweden</aff><aff id="Aff52"><label>52</label><institution-wrap><institution-id institution-id-type="GRID">grid.411843.b</institution-id><institution>Department of Clinical Genetics,</institution><institution>Lund University Hospital,</institution></institution-wrap>221 85 Lund, Sweden</aff><aff id="Aff53"><label>53</label><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Department of Genetics,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, 3584 CX The Netherlands</aff><aff id="Aff54"><label>54</label><institution-wrap><institution-id institution-id-type="ISNI">0000000090126352</institution-id><institution-id institution-id-type="GRID">grid.7692.a</institution-id><institution>Center for Molecular Medicine,</institution><institution>University Medical Center Utrecht,</institution></institution-wrap>Utrecht, 3584 CX The Netherlands</aff><aff id="Aff55"><label>55</label>EuroEPINOMICS RES consortium,<uri>http://www.euroepinomics.org/</uri></aff><aff id="Aff56"><label>56</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 0606 5382</institution-id><institution-id institution-id-type="GRID">grid.10306.34</institution-id><institution></institution><institution>DDD Study, Wellcome Trust Sanger Institute,</institution></institution-wrap>Hinxton, Cambridge, UK</aff></contrib-group><pub-date pub-type="epub"><day>10</day><month>3</month><year>2017</year></pub-date><pub-date pub-type="pmc-release"><day>10</day><month>3</month><year>2017</year></pub-date><pub-date pub-type="ppub"><year>2017</year></pub-date><volume>136</volume><issue>4</issue><fpage>463</fpage><lpage>479</lpage><history><date date-type="received"><day>16</day><month>1</month><year>2017</year></date><date date-type="accepted"><day>21</day><month>2</month><year>2017</year></date></history><permissions><copyright-statement>© The Author(s) 2017</copyright-statement><license license-type="OpenAccess"><license-p><bold>Open Access</bold>This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0/">http://creativecommons.org/licenses/by/4.0/</ext-link>), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.</license-p></license></permissions><abstract id="Abs1"><p>Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, <italic>AKT3</italic>, <italic>HNRNPU</italic> and <italic>ZBTB18</italic> are highly expressed in the brain and point mutations in these genes have been recently identified in children with neurodevelopmental phenotypes. In this study, we report the clinical and molecular data from 17 patients with 1q43q44 microdeletions, four with <italic>ZBTB18</italic> mutations and seven with <italic>HNRNPU</italic> mutations, and review additional data from 37 previously published patients with 1q43q44 microdeletions. We compare clinical data of patients with 1q43q44 microdeletions with those of patients with point mutations in <italic>HNRNPU</italic> and <italic>ZBTB18</italic> to assess the contribution of each gene as well as the possibility of epistasis between genes. Our study demonstrates that <italic>AKT3</italic> haploinsufficiency is the main driver for microcephaly, whereas <italic>HNRNPU</italic> alteration mostly drives epilepsy and determines the degree of intellectual disability. <italic>ZBTB18</italic> deletions or mutations are associated with variable corpus callosum anomalies with an incomplete penetrance. <italic>ZBTB18</italic> may also contribute to microcephaly and <italic>HNRNPU</italic> to thin corpus callosum, but with a lower penetrance. Co-deletion of contiguous genes has additive effects. Our results confirm and refine the complex genotype-phenotype correlations existing in the 1qter microdeletion syndrome and define more precisely the neurodevelopmental phenotypes associated with genetic alterations of <italic>AKT3, ZBTB18</italic> and <italic>HNRNPU</italic> in humans.</p><sec><title>Electronic supplementary material</title><p>The online version of this article (doi:10.1007/s00439-017-1772-0) contains supplementary material, which is available to authorized users.</p></sec></abstract><funding-group><award-group><funding-source><institution-wrap><institution-id institution-id-type="FundRef">http://dx.doi.org/10.13039/501100002738</institution-id><institution>Assistance Publique - Hôpitaux de Paris</institution></institution-wrap></funding-source><award-id>PO81260</award-id><principal-award-recipient><name><surname>Héron</surname><given-names>Delphine</given-names></name></principal-award-recipient></award-group><award-group><funding-source><institution>Fondation Maladies Rares</institution></funding-source><award-id>HTS-RD-2011</award-id><principal-award-recipient><name><surname>Héron</surname><given-names>Delphine</given-names></name></principal-award-recipient></award-group><award-group><funding-source><institution-wrap><institution-id institution-id-type="FundRef">http://dx.doi.org/10.13039/501100004431</institution-id><institution>Fondation de France</institution></institution-wrap></funding-source><award-id>FdF—Engt n°15144</award-id><principal-award-recipient><name><surname>Héron</surname><given-names>Delphine</given-names></name></principal-award-recipient></award-group><award-group><funding-source><institution-wrap><institution-id institution-id-type="FundRef">http://dx.doi.org/10.13039/501100001665</institution-id><institution>Agence Nationale de la Recherche</institution></institution-wrap></funding-source></award-group><award-group><funding-source><institution>INSERM</institution></funding-source></award-group><award-group><funding-source><institution-wrap><institution-id institution-id-type="FundRef">http://dx.doi.org/10.13039/501100006005</institution-id><institution>Agence de la Biomédecine</institution></institution-wrap></funding-source></award-group><award-group><funding-source><institution>Investissements d’Avenir</institution></funding-source><award-id>ANR-10-IAIHU-06</award-id><principal-award-recipient><name><surname>Attié-Bitach</surname><given-names>Tania</given-names></name></principal-award-recipient></award-group><award-group><funding-source><institution-wrap><institution-id institution-id-type="FundRef">http://dx.doi.org/10.13039/501100002915</institution-id><institution>Fondation pour la Recherche Médicale</institution></institution-wrap></funding-source></award-group></funding-group><custom-meta-group><custom-meta><meta-name>issue-copyright-statement</meta-name><meta-value>© Springer-Verlag Berlin Heidelberg 2017</meta-value></custom-meta></custom-meta-group></article-meta></front><body><sec id="Sec1"><title>Introduction</title><p>Deletion of the subtelomeric region of the long arm of chromosome 1 (1q43q44 or 1qter microdeletion syndrome) is associated with a complex neurological phenotype, including moderate to severe intellectual disability (ID), microcephaly, epilepsy and anomalies of the corpus callosum (AnCC). More than 40 patients with 1q43q44 microdeletions of variable sizes identified by chromosome microarray have been reported. Comparison of their clinical phenotypes has established some genotype-phenotype correlations and has identified three genes, preferentially expressed in the brain and located in a genomic region spanning 1.36 Mb (between the hg19 genomic coordinates 243,663,021 and 245,027,827), as the main genes contributing to the 1qter microdeletion phenotype: <italic>AKT3</italic> is the main candidate for microcephaly, <italic>ZBTB18</italic> for AnCC and <italic>HNRNPU</italic> for epilepsy (Ballif et al. <xref ref-type="bibr" rid="CR1">2012</xref>; Nagamani et al. <xref ref-type="bibr" rid="CR26">2012</xref>; Thierry et al. <xref ref-type="bibr" rid="CR37">2012</xref>). However, these findings are subject to controversy depending on the study and further evidence supporting these hypotheses is therefore lacking.</p><p>Interestingly, point mutations in <italic>AKT3</italic>, <italic>ZBTB18</italic> and <italic>HNRNPU</italic> have recently been identified by whole exome sequencing in patients with different neurodevelopmental phenotypes. <italic>AKT3</italic> encodes a serine/threonine protein kinase involved in the mammalian target of rapamycin (mTOR) signaling pathway. Gain-of-function point mutations or microduplications leading to abnormal AKT3 and mTOR activation, most of which are limited to somatic brain populations, cause a spectrum of disorders characterized by cerebral hemisphere overgrowth such as hemimegalencephaly (HME), megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) and megalencephaly-capillary malformation (MCAP) (Lee et al. <xref ref-type="bibr" rid="CR21">2012</xref>; Mirzaa et al. <xref ref-type="bibr" rid="CR24">2013</xref>; Poduri et al. <xref ref-type="bibr" rid="CR30">2012</xref>; Riviere et al. <xref ref-type="bibr" rid="CR32">2012</xref>). Conversely, <italic>Akt3</italic><sup>−<italic>/</italic>−</sup> mice show a 20% reduction in brain size (Easton et al. <xref ref-type="bibr" rid="CR12">2005</xref>). <italic>ZBTB18</italic> (also known as <italic>ZNF238</italic> or <italic>RP58</italic>) encodes a C2H2-type zinc finger transcription factor negatively controlling the expression of genes involved in neuronal development, including cell division of progenitor cells and survival of postmitotic cortical neurons (Baubet et al. <xref ref-type="bibr" rid="CR2">2012</xref>; Heng et al. <xref ref-type="bibr" rid="CR19">2015</xref>; Xiang et al. <xref ref-type="bibr" rid="CR39">2012</xref>). <italic>Zbtb18</italic>-deficient mice show features reminiscent of the 1q43q44 microdeletion syndrome including microcephaly and agenesis of the corpus callosum (AgCC) (Xiang et al. <xref ref-type="bibr" rid="CR39">2012</xref>). Eight patients with <italic>de novo ZBTB18</italic> mutations have been reported, including three with a normal corpus callosum (CC) (Cohen et al. <xref ref-type="bibr" rid="CR6">2016</xref>; de Munnik et al. <xref ref-type="bibr" rid="CR9">2014</xref>; Lopes et al. <xref ref-type="bibr" rid="CR22">2016</xref>; Rauch et al. <xref ref-type="bibr" rid="CR31">2012</xref>) and four with AnCC (Cohen et al. <xref ref-type="bibr" rid="CR6">2016</xref>). Finally, <italic>HNRNPU</italic> encodes the heterogeneous nuclear ribonucleoprotein (hnRNP) U, an abundant nucleoplasmic phosphoprotein able to bind pre-mRNA in vivo, possibly involved in pre-mRNA splicing (Roshon and Ruley <xref ref-type="bibr" rid="CR33">2005</xref>; Ye et al. <xref ref-type="bibr" rid="CR40">2015</xref>). Eighteen de novo and/or truncating mutations in <italic>HNRNPU</italic> mutations have been reported in ClinVar, Decipher and in different studies (Carvill et al. <xref ref-type="bibr" rid="CR5">2013</xref>; de Kovel et al. <xref ref-type="bibr" rid="CR8">2016</xref>; Epi4K Consortium et al. <xref ref-type="bibr" rid="CR13">2013</xref>; Hamdan et al. <xref ref-type="bibr" rid="CR17">2014</xref>; Monroe et al. <xref ref-type="bibr" rid="CR25">2016</xref>; Need et al. <xref ref-type="bibr" rid="CR27">2012</xref>; Zhu et al. <xref ref-type="bibr" rid="CR42">2015</xref>); however, since these mutations were reported each in separate studies and the phenotype of the patients was not described, a specific disorder related to <italic>HNRNPU</italic> mutations is not yet characterized. Although the description of these patients independently reinforced the previously proposed genotype–phenotype correlations, the dispersion of patients with point mutations in different studies and the absence of comparison with microdeletions did not permit to clearly address the clinical spectra associated with mutations in these genes, nor the possible epistatic or additive genetic interactions. The aim of this study was to describe in more details novel patients with <italic>HNRNPU</italic> and <italic>ZBTB18</italic> point mutations identified by next generation sequencing and to compare their core phenotype with those of patients with 1q43q44 microdeletions to decipher the contribution of each gene to the 1qter microdeletion syndrome. To this aim, we collected and compared the data of 17 patients with 1q43-q44 deletions, four patients with <italic>ZBTB18</italic> mutations and seven with <italic>HNRNPU</italic> mutations.</p></sec><sec id="Sec2"><title>Materials and methods</title><sec id="Sec3"><title>Human subjects</title><p>We independently identified two <italic>ZBTB18</italic> point mutations in unrelated patients with AnCC and one <italic>HNRNPU</italic> mutation in a patient with epileptic encephalopathy by, respectively, sequencing 423 genes associated with AnCC (callosome panel) in humans or mice (Mignot et al. <xref ref-type="bibr" rid="CR23">2016</xref>) or 4813 genes of the Trusight One panel (Illumina).</p><p>We then collected clinical and molecular data of patients with <italic>ZBTB18</italic> and <italic>HNRNPU</italic> mutations or 1q43q44 microdeletions through members of the EUROEPINOMICS RES consortium, the French Achropuce network (<ext-link ext-link-type="uri" xlink:href="http://www.renapa.univ-montp1.fr/">http://www.renapa.univ-montp1.fr/</ext-link>), Genematcher (Sobreira et al. <xref ref-type="bibr" rid="CR34">2015</xref>) and Decipher (<ext-link ext-link-type="uri" xlink:href="https://decipher.sanger.ac.uk/">https://decipher.sanger.ac.uk/</ext-link>) (Firth et al. <xref ref-type="bibr" rid="CR14">2009</xref>). This series includes previously reported patients with updated clinical data and previously reported genotypes with unreported clinical data: patients D2, D3, D4, D5 and D8 were reported as patients #7, #5, #3, #9 and #6, respectively, in (Thierry et al. <xref ref-type="bibr" rid="CR37">2012</xref>); patient H2 was reported as patient #15 in (Monroe et al. <xref ref-type="bibr" rid="CR25">2016</xref>); patient H3 was reported as patient 2012D06376 (de Kovel et al.); the mutation identified in patient H7 was present in Decipher (ID 268181—DDD-NIG268181); deletions present in Decipher correspond to patients D9 (ID 2762), D13 (ID 332095), D14 (ID 275142), D15 (ID 268383), D16 (ID 253339) and D17 (ID 2926112). All other patients with deletions and point mutations are novel. In addition, we performed a review of the literature on 1q43q44 microdeletions and included microdeletions <6 Mb encompassing <italic>AKT3</italic>, <italic>ZBTB18</italic> and/or <italic>HNRNPU</italic> with available breakpoints, excluding patients with other probably pathogenic chromosomic anomaly (numbered L1–L37: Ballif et al. <xref ref-type="bibr" rid="CR1">2012</xref>; Du et al. <xref ref-type="bibr" rid="CR11">2014</xref>; Gai et al. <xref ref-type="bibr" rid="CR15">2015</xref>; Gupta et al. <xref ref-type="bibr" rid="CR16">2014</xref>; Nagamani et al. <xref ref-type="bibr" rid="CR26">2012</xref>; Perlman et al. <xref ref-type="bibr" rid="CR29">2013</xref>; Thierry et al. <xref ref-type="bibr" rid="CR37">2012</xref>). Coordinates of the deletions reported in hg18 were converted into hg19/GRCh37 with LiftOver (<ext-link ext-link-type="uri" xlink:href="https://genome.ucsc.edu/cgi-bin/hgLiftOver">https://genome.ucsc.edu/cgi-bin/hgLiftOver</ext-link>). Clinical data were collected using a standardized questionnaire directly from the referring clinicians. Microcephaly was considered for patients with an occipitofrontal circumference (OFC) of at least −2.5 standard deviation (SD) below the mean. A radiologist, a neuropediatrician and a geneticist collegially ascertained brain MRI anomalies. AgCC designates the absence of one or all parts of the CC, DysCC is used for complete CC with an abnormal shape or abnormally small CC, ThCC is used for complete CC with insufficient thickness.</p></sec><sec id="Sec4"><title>Genotype-phenotype correlations, bioinformatics and statistics analyses</title><p>We retrieved the probability of loss-of-function (LoF) intolerance (pLI) calculated by the Exome Aggregation Consortium (ExAC) and the haploinsufficiency score (HI) established by Huang et al. (<xref ref-type="bibr" rid="CR20">2010</xref>) for genes of the 1q43q44 region comprised between genomic positions 239,990,618 and 249,208,333 to determine genes intolerant to haploinsufficiency, contributing to 1qter deletion phenotypes (Table S1). The pLI calculates the probability that a gene is intolerant to LoF mutations, calculated from the difference between the number of LoF mutations observed in the 60,000 individuals present in ExAC and the theoretical number of expected LoF mutations in this gene in a population of same size if there was no selective constraint. Genes with a pLI ≥0.9 are considered to be significantly LoF intolerant. HI scores evaluate the probability that the gene is intolerant to haploinsufficiency, calculated from CNV data and integrating genomic, evolutionary and function properties of haploinsufficiency (Huang et al. <xref ref-type="bibr" rid="CR20">2010</xref>). High ranks (e.g. 0–10%) indicate a gene that is likely intolerant to haploinsufficient; low ranks (e.g. 90–100%) indicate a gene that likely tolerates haploinsufficiency.</p><p>Missense variants were assessed in silico for possible pathogenicity using Alamut Visual 2.7 (Biointeractive Software, France), PolyPhen-2 (<ext-link ext-link-type="uri" xlink:href="http://genetics.bwh.harvard.edu/pph2">http://genetics.bwh.harvard.edu/pph2</ext-link>) and SIFT (<ext-link ext-link-type="uri" xlink:href="http://sift.bii.a-star.edu.sg">http://sift.bii.a-star.edu.sg</ext-link>).</p><p>We used UCSC (<ext-link ext-link-type="uri" xlink:href="https://genome-euro.ucsc.edu">https://genome-euro.ucsc.edu</ext-link>) to align microdeletions on a schematic representation of the 1q chromosome. Alignments were performed using different colors explained in the figure legends. Minimal critical regions were defined as the smallest deleted region of overlap found in at least 95% (microcephaly and epilepsy) or 85% (AnCC) of patients harboring a given phenotypic trait. Frequencies were compared using the Fisher’s exact test.</p></sec></sec><sec id="Sec5"><title>Results</title><sec id="Sec6"><title>Patients with 1q43-q44 deletion</title><p>To decipher the contribution of genes located in 1qter region to the corresponding microdeletion syndrome, we collected clinical data from 17 patients with 1q43-q44 microdeletion (Table S2) and compiled them with those of 37 previously reported patients fulfilling our criteria (see Methods, Table S3). Altogether, the 54 deletions span a 10 Mb region comprising 83 genes, 39 of which encode clustered olfactive receptors (OR). Seven genes (<italic>RGS7, AKT3, ZBTB18, HNRNPU, KIF26B, CNST, AHCTF1</italic>) were predicted to be probably or possibly intolerant to haploinsufficiency among the 44 genes other than OR genes (Table S1). Among these genes, <italic>AKT3, ZBTB18</italic> and <italic>HNRNPU</italic> are clearly those with the highest pLI scores and HI ranks as well as the highest expression in the brain (Table S1). We then decided to focus our study on these three genes that likely contribute to most clinical features of 1q43q44 microdeletion syndrome, as predicted from previous genotype-phenotype correlation studies. Specifically, 12 microdeletions encompassed <italic>AKT3</italic>, <italic>ZBTB18</italic> and <italic>HNRNPU</italic>; six completely or partially included <italic>AKT3</italic> but not <italic>ZBTB18</italic> and <italic>HNRNPU</italic>; nine encompassed <italic>AKT3</italic> and <italic>ZBTB18</italic> but not <italic>HNRNPU</italic>, two <italic>ZBTB18</italic> and <italic>HNRNPU</italic> but not <italic>AKT3</italic>, and 25 deleted <italic>HNRNPU</italic> but not <italic>AKT3</italic> and <italic>ZBTB18</italic> (Fig. S1).</p><p>Out of the 49/54 patients with available OFC, 26 had microcephaly (red bars in Fig. S2A); 47/54 patients had available brain imaging: 20 had AnCC, including ten with agenesis (AgCC, red bars in Fig.S2B), five with dysgenesis (DysCC, pink bars in Fig.S2B) and five with thin corpus callosum (ThCC, green bars in Fig. S2B). Finally, 36/54 patients had epilepsy (red bars in Fig. S2C).</p><p>The alignments of microdeletions found in patients with a known OFC and comparison of their gene content showed that microcephaly was present in all 20 patients with deletions encompassing both <italic>AKT3</italic> and <italic>ZBTB18</italic>, regardless of the presence of <italic>HNRNPU</italic> in the deletions (Fig. <xref rid="Fig1" ref-type="fig">1</xref>a, b). Conversely, 20/21 patients with a deletion encompassing <italic>HNRNPU</italic> but sparing <italic>AKT3</italic> and <italic>ZBTB18</italic> had normal OFC (versus 2/15 when <italic>HNRNPU</italic> not deleted, <italic>p</italic> = 0.00086, Fisher’s exact test). <italic>AKT3</italic> was included in 24/26 deletions identified in individuals with microcephaly, whereas only 2/23 patients with microdeletions sparing <italic>AKT3</italic> had microcephaly (<italic>p</italic> = 1.46<italic>E</italic><sup>−9</sup>). The number of patients with microcephaly who had deletions including <italic>ZBTB18</italic> (<italic>n</italic> = 21/22) and sparing <italic>ZBTB18</italic> (5/27) was also significantly different (<italic>p</italic> = 4.25<italic>E</italic><sup>−8</sup>). Four of the six deletions including coding sequences of <italic>AKT3</italic> only and one of the two deletions encompassing <italic>ZBTB18</italic> but not <italic>AKT3</italic> were associated with microcephaly. The minimal critical region for microcephaly (g.243,778,438–g.244,125,269) mapped to a region encompassing the 5′ upstream region and the five first exons of <italic>AKT3</italic> (Figs. <xref rid="Fig1" ref-type="fig">1</xref>a, <xref rid="Fig2" ref-type="fig">2</xref>a). Altogether, these results indicate that (1) <italic>AKT3</italic> is the main driver for microcephaly in the 1q43q44 region; (2) <italic>ZBTB18</italic> haploinsufficiency may independently lead to microcephaly with a lower penetrance; and (3) co-deletion of <italic>AKT3</italic> and <italic>ZBTB18</italic>, which are neighboring genes spaced from only ~200 Kb, may have an addictive effect, resulting in constant microcephaly.<fig id="Fig1"><label>Fig. 1</label><caption><p>Significant genotype–phenotype correlations gained from comparison of clinical data of patients with microdeletions. <bold>a</bold>, <bold>b</bold> Alignment of microdeletions found in patients with (<italic>red bars</italic>) and without (<italic>blue bars</italic>) microcephaly showed that deletions including <italic>AKT3</italic> (<italic>upper panel</italic>) were mostly associated with microcephaly and those excluding <italic>AKT3</italic> (<italic>lower panel</italic>) were mostly associated with normal OFC (<bold>a</bold>). The minimal critical region (<italic>vertical rectangle with dashed borders</italic>) overlapped the 5′ region <italic>of AKT3</italic>. Diagrams in <bold>b</bold> show the percentages of patients with (<italic>red</italic>) or without (<italic>blue</italic>) microcephaly who had a microdeletion including (<italic>AKT3</italic>−) or excluding (<italic>AKT3</italic>+) <italic>AKT3</italic> (<italic>upper panel</italic>), and comparison of the percentage of patients with (<italic>red</italic>) or without (<italic>blue</italic>) microcephaly who had a microdeletion encompassing only one of the three genes of interest, two genes or all three genes (<italic>lower panel, empty circles</italic> designate deleted genes, <italic>full circles</italic> are for non-deleted genes). <bold>c</bold>, <bold>d</bold> Alignment of the microdeletions found in patients with AnCC (AgCC <italic>red bars</italic>, DysCC <italic>pink bars</italic>, ThCC <italic>green bars</italic>) and patients without CC anomalies (<italic>blue bars</italic>) showed that deletions including <italic>ZBTB18</italic> (<italic>upper panel</italic>) were mostly associated with all types of AnCC and those excluding <italic>ZBTB18</italic> (<italic>lower panel</italic>) were mostly associated with normal CC. The minimal critical region (<italic>vertical rectangle with dashed borders</italic>) overlapped the entire coding sequence of <italic>ZBTB18</italic>. Diagrams in <bold>d</bold> show the percentages of patients with (<italic>orange</italic>) or without (<italic>blue</italic>) AnCC who had a microdeletion including (<italic>ZBTB18</italic>−) or excluding (<italic>ZBTB18</italic>+) <italic>ZBTB18</italic> (<italic>upper panel</italic>), and comparison of the percentage of patients with (<italic>orange</italic>) or without (<italic>blue</italic>) AnCC who had a microdeletion encompassing only one of the three genes of interest, two genes or all three genes (<italic>lower panel</italic>, <italic>empty circles</italic> designate deleted genes, <italic>full circles</italic> are for non-deleted genes). <bold>e</bold>, <bold>f</bold> Alignment of the microdeletions found in patients with (<italic>red bars</italic>) and without (<italic>blue bars</italic>) epilepsy showed that deletions including <italic>HNRNPU</italic> (<italic>upper panel</italic>) were mostly associated with epilepsy and those excluding <italic>HNRNPU</italic> (<italic>lower panel</italic>) were mostly associated with no seizures. The minimal critical region (<italic>vertical rectangle with dashed borders</italic>) overlapped the entire coding sequence of <italic>HNRNPU</italic> and <italic>COX20</italic>. Diagrams in <bold>f</bold> show the percentages of patients with (<italic>red</italic>) or without (<italic>blue</italic>) epilepsy who had a microdeletion including (<italic>HNRNPU</italic>−) or excluding (<italic>HNRNPU</italic>+) <italic>HNRNPU</italic> (<italic>upper panel</italic>), and comparison of the percentage of patients with (<italic>red</italic>) or without (<italic>blue</italic>) epilepsy who had a microdeletion encompassing only one of the three genes of interest, two genes or all three genes (<italic>lower panel, empty circles</italic> designate deleted genes, <italic>full circles</italic> are for non-deleted genes)</p></caption><graphic xlink:href="439_2017_1772_Fig1_HTML" id="MO1"></graphic></fig><fig id="Fig2"><label>Fig. 2</label><caption><p>Summary of intragenic microdeletions and point mutations in <italic>AKT3</italic>, <italic>ZBTB18</italic> and <italic>HNRNPU</italic>. <bold>a</bold> A schematic representation of the <italic>AKT3</italic> gene and protein, location of point mutations (somatic) and duplications (somatic or germline) identified in patients with brain overgrowth syndromes (<italic>upper panel</italic>) and comparison of intragenic <italic>AKT3</italic> microdeletions and their association with microcephaly (<italic>lower panel</italic>). <bold>b</bold> A schematic representation of the <italic>ZBTB18</italic> gene and protein and location of pathogenic point mutations identified in patients with ID and/or AnCC, including this study (<italic>upper panel</italic>) and the literature (<italic>lower panel</italic>). <bold>c</bold> A schematic representation of the <italic>HNRNPU</italic> gene and protein and location of pathogenic point mutations identified in patients with ID and epilepsy, including this study (<italic>upper panel</italic>) and the literature (<italic>lower panel</italic>)</p></caption><graphic xlink:href="439_2017_1772_Fig2_HTML" id="MO2"></graphic></fig></p><p>Considering all types of AnCC, the alignment of deletions revealed that, contrary to microcephaly, <italic>AKT3</italic> deletion was not significantly associated with AnCC. More precisely, 11/26 patients with <italic>AKT3</italic> deletion <italic>versus</italic> 16/21 without <italic>AKT3</italic> deletion had a normal CC (<italic>p</italic> = 0.06). Accordingly, all six patients with a microdeletion involving only <italic>AKT3</italic> had a normal CC. The proportions of patients with AnCC who had deletions encompassing (17/32) or sparing <italic>HNRNPU</italic> (5/15) were also not significantly different (<italic>p</italic> = 0.23). In contrast, the number of patients with AnCC was significantly higher in cases of deletions containing <italic>ZBTB18</italic> (17/22) compared with deletions sparing this gene (3/25, <italic>p</italic> = 6.84<italic>E</italic><sup>−6</sup>, Fig. <xref rid="Fig1" ref-type="fig">1</xref>c, d). Accordingly, the minimal critical region for AnCC overlaps <italic>ZBTB18</italic> (Fig. <xref rid="Fig1" ref-type="fig">1</xref>c). When comparing patients with <italic>ZBTB18</italic> deletions sparing <italic>HNRNPU versus</italic> deletions encompassing both genes, the proportions of AnCC as a whole were not significantly different (5/9 vs 12/13, respectively; Fig. S3). However, these proportions reached statistical significance when considering AgCC instead of AnCC (<italic>p</italic> = 0.01). These results suggest that (1) the main driver for AnCC, and more particularly AgCC, in the 1q region is <italic>ZBTB18,</italic> although with incomplete penetrance, (2) <italic>HNRNPU</italic> haploinsufficiency can be associated with ThCC, and (3) deletion of both <italic>ZBTB18</italic> and <italic>HNRNPU</italic>, which are 792 kb distant, has an additive effect, resulting in more penetrant AnCC phenotype and more frequent AgCC.</p><p>Deletions identified in epileptic patients showed a shift toward the telomeric extremity of the 1q region (Fig. S2). Of the 36 patients with epilepsy, 35 had a deletion including <italic>HNRNPU</italic> and only one had a deletion sparing <italic>HNRNPU</italic> (<italic>p</italic> = 1.28<italic>E</italic><sup>−8</sup>, Fig. <xref rid="Fig1" ref-type="fig">1</xref>e, f). The minimal critical region for epilepsy was narrow and included <italic>HNRNPU</italic> and <italic>COX20</italic>, which is a gene that tolerates haploinsufficiency. Comparison of the number of epileptic patients who had <italic>AKT3</italic> deleted (<italic>n</italic> = 11/27) or spared (<italic>n</italic> = 25/27) and the absence of seizures in patients with deletion restricted to this gene confirmed that <italic>AKT3</italic> was not involved in epilepsy. The difference in the number of epileptic patients with or without <italic>ZBTB18</italic> deletion was also not significant (13/23 vs 23/31, <italic>p</italic> = 0.24). These results suggest that the loss of one <italic>HNRNPU</italic> allele is the primary cause of epilepsy.</p></sec><sec id="Sec7"><title>Patients with HNRNPU mutations</title><p>Among the seven patients with <italic>HNRNPU</italic> mutations, six had constitutive de novo mutations and one has a mosaic frameshift mutation (Table <xref rid="Tab1" ref-type="table">1</xref>). All seven mutations (four frameshifts, one nonsense variant and two splice site mutations, Fig. <xref rid="Fig2" ref-type="fig">2</xref>b) theoretically introduced a premature termination codon in the protein sequence, a mutation spectrum compatible with <italic>HNRNPU</italic> haploinsufficiency as the main consequence.<table-wrap id="Tab1"><label>Table 1</label><caption><p>Molecular and clinical characteristics of patients with <italic>HNRNPU</italic> mutations</p></caption><table frame="hsides" rules="groups"><thead><tr><th align="left">Patient ID</th><th align="left">H1</th><th align="left">H2</th><th align="left">H3</th><th align="left">H4</th><th align="left">H5</th><th align="left">H6</th><th align="left">H7</th></tr></thead><tbody><tr><td align="left">Gender</td><td align="left">F</td><td align="left">F</td><td align="left">F</td><td align="left">M</td><td align="left">M</td><td align="left">M</td><td align="left">F</td></tr><tr><td align="left">Current age (years)</td><td align="left">6.5</td><td align="left">16.75</td><td align="left">5.5</td><td align="left">22</td><td align="left">17</td><td align="left">6.3</td><td align="left">8</td></tr><tr><td align="left" colspan="8">Genetic data</td></tr><tr><td align="left"> Genomic position (hg19)</td><td align="left">g.245027594delinsAAT</td><td align="left">g.[245018776_245018779=/245018776_245018779del]</td><td align="left">g.245019803dup</td><td align="left">g.245017808G>T</td><td align="left">g.245020092del</td><td align="left">g.245020092G>A</td><td align="left">g.245026033C>T</td></tr><tr><td align="left"> cDNA change (NM_031844.2)</td><td align="left">c.16delinsATT</td><td align="left">c.[2299_2302AACA=/2299_2302del]</td><td align="left">c.1868dup</td><td align="left">c.2425-3C>A</td><td align="left">c.1681del</td><td align="left">c.1681C>T</td><td align="left">c.692-1G>A</td></tr><tr><td align="left"> Amino acid change</td><td align="left">p.Val6Ilefs*4</td><td align="left">p.Asn767Glufs*66 (mosaic)</td><td align="left">p.Glu624Argfs*24</td><td align="left">p.?</td><td align="left">p.Gln561Serfs*45</td><td align="left">p.Gln561* (mosaic)</td><td align="left">p.?</td></tr><tr><td align="left"> Exon/intron</td><td align="left">Exon 1</td><td align="left">Exon 12</td><td align="left">Exon 10</td><td align="left">Intron 13</td><td align="left">Exon 9</td><td align="left">Exon 9</td><td align="left">Intron 1</td></tr><tr><td align="left"> Inheritance</td><td align="left">Paternal mosaicism</td><td align="left">De novo</td><td align="left">De novo</td><td align="left">De novo</td><td align="left">De novo</td><td align="left">De novo</td><td align="left">De novo</td></tr><tr><td align="left" colspan="8">Epilepsy</td></tr><tr><td align="left"> Epilepsy</td><td align="left">Yes</td><td align="left">No</td><td align="left">Yes</td><td align="left">Yes</td><td align="left">Yes</td><td align="left">Yes</td><td align="left">Yes</td></tr><tr><td align="left"> Age of first seizure</td><td align="left">2.5 months</td><td align="left">NA</td><td align="left">8 months</td><td align="left">7 months (febrile sz)</td><td align="left">4 months</td><td align="left">1 febrile sz at 3 years then sz at 4.8 years</td><td align="left">12 months</td></tr><tr><td align="left"> Type of seizures</td><td align="left">Short tonic sz, unilateral clonic, eye blinking + atypical abs.</td><td align="left">NA</td><td align="left">GTCS, atonic</td><td align="left">Abs., GTCS (febrile before age 3 years)</td><td align="left">Atypical abs., cyanotic episodes, nocturnal tonic and GTCS</td><td align="left">GTCS, abs.</td><td align="left">NA</td></tr><tr><td align="left"> Triggering factors</td><td align="left">Fever</td><td align="left">NA</td><td align="left">Fever</td><td align="left">Fever, bright light, stress, tiredness</td><td align="left">None</td><td align="left">Fever</td><td align="left">Fever</td></tr><tr><td align="left"> Max number of seizures</td><td align="left">10/day</td><td align="left">NA</td><td align="left">1/months</td><td align="left">>20/day</td><td align="left">Tonic and abs.: multiple/day; GTCS: 5/months</td><td align="left">24/months</td><td align="left">1–2/months</td></tr><tr><td align="left"> Status epilepticus?</td><td align="left">Yes (2 with fever)</td><td align="left">NA</td><td align="left">No</td><td align="left">No</td><td align="left">Only non-convulsive</td><td align="left">No</td><td align="left">No</td></tr><tr><td align="left" colspan="8">Development</td></tr><tr><td align="left"> Age of sitting</td><td align="left">2 years</td><td align="left">Delayed</td><td align="left">NA</td><td align="left">Delayed</td><td align="left">NA</td><td align="left">18 months</td><td align="left">14 months</td></tr><tr><td align="left"> Age of walking</td><td align="left">Never walked</td><td align="left">Never walked (wheelchair bound)</td><td align="left">2 years</td><td align="left">Delayed</td><td align="left">NA</td><td align="left">2.5 years</td><td align="left">3 years</td></tr><tr><td align="left"> First words</td><td align="left">None</td><td align="left">Delay</td><td align="left">2.5 years</td><td align="left">3 years</td><td align="left">None</td><td align="left">20 months</td><td align="left">3 years</td></tr><tr><td align="left"> Current language abilities</td><td align="left">Few bisyllable words</td><td align="left">Delay (short sentences)</td><td align="left">Delay</td><td align="left">Single words</td><td align="left">Absence of speech</td><td align="left">4 years: 180 words, 2–3 word sentences; 6 years: regressed to 100-150 single words</td><td align="left">Words</td></tr><tr><td align="left"> Global intellectual level</td><td align="left">Severe ID</td><td align="left">Moderate/severe ID</td><td align="left">Deficient</td><td align="left">Level of cognitive functioning 2.5 years, level of social emotional functioning 9 months, autistic disorder</td><td align="left">Severe ID</td><td align="left">Moderate ID</td><td align="left">Moderate-severe ID</td></tr><tr><td align="left" colspan="8">Clinical examination</td></tr><tr><td align="left"> Height (cm)/weight (kg)/OFC (cm) + SD/age (years)</td><td align="left">110 (−1)/20 (0)/47 (−3)/6.5</td><td align="left">115 (−4)/42 (≫+2.5)/56 (+1.5)/11.5</td><td align="left"> NA (−2)/NA (−0.5)/NA (−1)/2.5</td><td align="left">187 (+0.5)/100 (>+3)/58.5 (+0.5)/22</td><td align="left">Normal</td><td align="left">105 (−2), 21.9 (0)/54 (+2)/6</td><td align="left">NA</td></tr><tr><td align="left"> Neurological exam data</td><td align="left">Global hypotonia</td><td align="left">Axial hypotonia, spastic diplegia</td><td align="left">Hypotonia, hyperlaxity of joints</td><td align="left">NA</td><td align="left">Normal</td><td align="left">Hypotonia</td><td align="left">NA</td></tr><tr><td align="left"> Brain MRI</td><td align="left">Enlarged lateral ventricles, complete CC</td><td align="left">Dilated ventricles (presumed aqueduct stenosis), small splenium of CC</td><td align="left">Normal</td><td align="left">Brain CT scan normal (before age 4 years)</td><td align="left">Thin CC</td><td align="left">Normal</td><td align="left">NA</td></tr></tbody></table><table-wrap-foot><p><italic>NA</italic> not available or not applicable,<italic> sz</italic> seizures;<italic> GTCS</italic> generalized tonic-clonic seizures;<italic> abs.</italic> absences;<italic> ID</italic> intellectual deficiency;<italic> OFC</italic> occipitofrontal circumference;<italic> CC</italic> corpus callosum.
$ predicted to change splice acceptor site, potentially leading to a shorter protein
</p></table-wrap-foot></table-wrap></p><p>All six patients with constitutive de novo <italic>HNRNPU</italic> mutations had early-onset epilepsy (Table <xref rid="Tab1" ref-type="table">1</xref>, Table S4). Seizure onset ranged from age 2.5 months to 4 years, and was within or at the first year of life in 5/6 patients. Fever was a factor triggering seizures in five patients. Seizures types included tonic–clonic, tonic, unilateral clonic or atypical absences occurring one to 20 times a day. Two patients experienced <italic>status epilepticus</italic>.</p><p>Early developmental delay was observed in all patients, including the individual with the mosaic mutation. The severity of ID ranged from moderate to severe. None of the seven patients was able to make sentences, four of them spoke single words at a time and one never acquired any word. Two patients older than 6 years never learned to walk independently and three others walked after the age of 30 months. Microcephaly was noted in one patient and global hypotonia in three. Among the five patients who underwent brain MRI, one displayed a small splenium of the CC and one had a globally thin CC (Fig. <xref rid="Fig3" ref-type="fig">3</xref>).<fig id="Fig3"><label>Fig. 3</label><caption><p>Aspects of the corpus callosum (CC) on MRI in patients with <italic>ZBTB18</italic> and <italic>HNRNPU</italic> mutations and deletions. <bold>a</bold> Normal CC in a patient with <italic>HNRNPU</italic> mutation (<italic>left</italic>) and ThCC in two patients with <italic>HNRNPU</italic> deletions (<italic>middle</italic> and <italic>right</italic>). <bold>b</bold> Partial AgCC (<italic>left</italic> and <italic>right</italic>) and short DysCC (<italic>middle</italic>) in three patients with <italic>ZBTB18</italic> mutations. <bold>c</bold> ThCC (<italic>left</italic>) and normal CC (<italic>middle</italic>) in two patients with <italic>AKT3</italic> + <italic>ZBTB18</italic> deletions. Partial AgCC in a patient with a deletion encompassing <italic>AKT3</italic> + <italic>ZBTB18</italic> + <italic>HNRNPU</italic> (<italic>right</italic>)</p></caption><graphic xlink:href="439_2017_1772_Fig3_HTML" id="MO3"></graphic></fig></p></sec><sec id="Sec8"><title>Patients with ZBTB18 mutations</title><p>Mutations identified in <italic>ZBTB18</italic> included three missense variants altering highly conserved amino acids of the protein (Fig. S4). Two of them are located in zinc finger domains in which missense mutations tend to cluster (Fig. <xref rid="Fig2" ref-type="fig">2</xref>c). The remaining was a nonsense mutation. Analysis of the parents showed that all variants occurred de novo.</p><p>All four patients with <italic>ZBTB18</italic> mutations had ID ranging from mild to severe (Table <xref rid="Tab2" ref-type="table">2</xref>). All had developmental delay with walking achieved by age 24 months (range 22–27 months). Language abilities were highly variable, with two 12-year-old patients speaking short sentences, one individual being able to read syllables at the same age, and the most severely affected adult patient speaking only a few words. Two patients experienced seizures from the age of 8 months and 9 years. Spells were tonic–clonic seizures and head turning with cyanosis. Epilepsy in the patient with the earliest onset rapidly responded to valproate therapy. The OFC was normal in three patients and borderline in another. AnCC was observed in the three patients who underwent brain MRI, with two having a partial AgCC and the other short CC (size <3rd percentile) classified as a DysCC (Fig. <xref rid="Fig3" ref-type="fig">3</xref>).<table-wrap id="Tab2"><label>Table 2</label><caption><p>Molecular and clinical characteristics of patients with <italic>ZBTB18</italic> mutations</p></caption><table frame="hsides" rules="groups"><thead><tr><th align="left">Patient ID</th><th align="left">Z1</th><th align="left">Z2</th><th align="left">Z3</th><th align="left">Z4</th></tr></thead><tbody><tr><td align="left" colspan="5">General data</td></tr><tr><td align="left"> Ethnic origin</td><td align="left">Caucasian</td><td align="left">Caucasian</td><td align="left">Caucasian</td><td align="left">Caucasian</td></tr><tr><td align="left"> Gender</td><td align="left">M</td><td align="left">F</td><td align="left">M</td><td align="left">F</td></tr><tr><td align="left"> Age at last examination (years)</td><td align="left">14</td><td align="left">12</td><td align="left">23</td><td align="left">12</td></tr><tr><td align="left" colspan="5">Genetic data</td></tr><tr><td align="left"> Variant position (hg19)</td><td align="left">g.244217120A>G</td><td align="left">g.244218467G>A</td><td align="left">g.244218377T>C</td><td align="left">g.244217675del</td></tr><tr><td align="left"> cDNA change (NM_205768.2)</td><td align="left">c.44A > G</td><td align="left">c.1391G > A</td><td align="left">c.1301T > C</td><td align="left">c.599del</td></tr><tr><td align="left"> Amino acid change</td><td align="left">p.His15Arg</td><td align="left">p.Arg464His</td><td align="left">p.Leu434Pro</td><td align="left">p.Ser200*</td></tr><tr><td align="left"> Exon no</td><td align="left">2</td><td align="left">2</td><td align="left">2</td><td align="left">2</td></tr><tr><td align="left"> Inheritance</td><td align="left">De novo</td><td align="left">De novo</td><td align="left">De novo</td><td align="left">De novo</td></tr><tr><td align="left" colspan="5">Epilepsy</td></tr><tr><td align="left"> Epilepsy</td><td align="left">No</td><td align="left">No</td><td align="left">Yes</td><td align="left">Yes</td></tr><tr><td align="left"> Age of first seizure</td><td align="left">NA</td><td align="left">NA</td><td align="left">9 years</td><td align="left">8 months</td></tr><tr><td align="left"> EEG</td><td align="left">NA</td><td align="left">5 years: few spikes</td><td align="left">NA</td><td align="left">Normal, then sz recorded, originating from left occipital lobe; later, spikes and occasional SW in the right centro-parietal region</td></tr><tr><td align="left" colspan="5">Development</td></tr><tr><td align="left"> Age of sitting</td><td align="left">NA</td><td align="left">NA</td><td align="left">10 months</td><td align="left"><9 months</td></tr><tr><td align="left"> Age of walking</td><td align="left">27 months</td><td align="left">22 months</td><td align="left">22 months</td><td align="left">24 months</td></tr><tr><td align="left"> First words</td><td align="left">delayed</td><td align="left">3 years</td><td align="left">NA</td><td align="left">24 months</td></tr><tr><td align="left"> Current language abilities</td><td align="left">11 years: 100 words; 12–14 years: short sentences</td><td align="left">12 years: reads syllables</td><td align="left">16 years: few words</td><td align="left">Short sentences, pronunciation difficulties, good comprehension</td></tr><tr><td align="left"> Use of hands</td><td align="left">Purposeful</td><td align="left">Purposeful</td><td align="left">Flapping of hands</td><td align="left">Purposeful</td></tr><tr><td align="left"> Other</td><td align="left">Oral dyspraxia, appropriate behavior</td><td align="left">Hyperactive, tick disorder, obsessive–compulsive behavior (10 years)</td><td align="left">NA</td><td align="left">Severe behavioral problems: opposition, intolerance to frustration, psychic rigidity, temper tantrums, hyperphagia</td></tr><tr><td align="left"> Global developmental level</td><td align="left">Moderate ID with prominent speech delay</td><td align="left">Mild-moderate ID (WISC-IV 6 years: VIQ 58, PIQ 49)</td><td align="left">Moderate/severe ID</td><td align="left">Moderate ID</td></tr><tr><td align="left" colspan="5">Clinical examination</td></tr><tr><td align="left"> Height (SD)/weight (SD)/OFC (SD)/age in years</td><td align="left">172 cm (+1)/44 kg (−0.25)/54.5 cm (0)/14</td><td align="left">142 cm (−1.75)/29.5 kg (−1.5)/50 cm (−2.25)/12</td><td align="left">192 cm (>+3)/NA/54.5 cm (−1)/23</td><td align="left">155.5 cm (+1)/54.9 kg (+2)/54 cm (+0.5)/12.5</td></tr><tr><td align="left"> Neurological examination</td><td align="left">Infantile hypotonia</td><td align="left">Normal</td><td align="left">Normal</td><td align="left">Normal</td></tr><tr><td align="left"> Brain MRI</td><td align="left">Partial agenesis of CC</td><td align="left">Short and dysgenetic CC</td><td align="left">NA</td><td align="left">Thin CC with hypoplastic splenium, mild enlargement of cerebellar interfolial spaces, wide Virchow–Robin spaces, diffuse hypomyelination</td></tr></tbody></table></table-wrap></p></sec><sec id="Sec9"><title>Developmental delay and intellectual disability in patients with deletions and mutations</title><p>Except one, all patients with 1q43q44 microdeletions or point mutations in <italic>ZBTB18</italic> and <italic>HNRNPU</italic> had developmental delay or ID with a wide range of severity (Tables <xref rid="Tab1" ref-type="table">1</xref>, <xref rid="Tab2" ref-type="table">2</xref>, S2 and S3). The only exception was a patient with a borderline intellectual quotient and a deletion limited to <italic>AKT3</italic> (#L31) inherited from his father who was reported to have an intelligence within the normal range (Gai et al. <xref ref-type="bibr" rid="CR15">2015</xref>).</p><p>Since formal evaluations of cognitive functioning were unavailable for most other patients, we used the postural and language milestones to evaluate their developmental level. Walking abilities were available for 22 patients with 1q43q44 deletions older than 2 years. Four of them were unable to walk and 18 walked independently at a mean age of 35 months (median age 24 months). Among ambulatory patients, (1) three had microdeletions encompassing <italic>ZBTB18</italic> and <italic>AKT3</italic> but not <italic>HNRNPU</italic> and walked at a mean age of 18 months (range 17–19 months, median age 18 months), (2) 13 with a deletion including <italic>HNRNPU</italic> but not <italic>AKT3</italic> and <italic>ZBTB18</italic> walked at a mean age of 32.6 months (range 21–59 months, median age 24 months), and (3) two had a large deletion encompassing the three genes and walked at a mean age of 6.5 years (range 5–7 years). Among non-ambulatory patients, one carried a <italic>HNRNPU</italic> deletion and the three others had a deletion of the three genes. These data suggest that the loss of one <italic>HNRNPU</italic> allele has a more deleterious effect on walking acquisition than the loss of <italic>ATK3/ZBTB18</italic> genes but larger deletions including all three genes have even more severe consequences. Walking abilities in patients with <italic>HNRNPU</italic> point mutations were similar to those with deletions of the gene. Patients with <italic>ZBTB18</italic> mutations globally walked later than those with deletions including <italic>AKT3</italic> and <italic>ZBTB18</italic> although this should be confirmed on larger patient series.</p><p>Language abilities were available for 15 patients with 1q43q44 deletions older than 4 years of our series only. Three patients did not speak any word, six had acquired a few words, six were able to speak short (<italic>n</italic> = 5) or full (<italic>n</italic> = 1) sentences. None of the four patients with a deletion of all three genes made sentences, whereas 2/2 patients with deletions including <italic>AKT3</italic> and <italic>ZBTB18</italic> but not <italic>HNRNPU,</italic> and 4/10 patients with <italic>HNRNPU</italic> deletions did. Thus, patients with <italic>HNRNPU</italic> point mutations globally had more severe speech impairments than patients with deletions including <italic>HNRNPU</italic>, who had more variable language abilities. Yet, language abilities were more preserved in patients with <italic>ZBTB18</italic> point mutations and individuals with deletions including <italic>ZBTB18</italic> but sparing <italic>HNRNPU</italic>, since 6/7 could speak sentences.</p></sec></sec><sec id="Sec10"><title>Discussion</title><p>The association of ID, microcephaly, AnCC and epilepsy characterizes the full neurodevelopmental phenotype of the 1q43q44 microdeletion syndrome. The recent identification of point mutations in <italic>ZBTB18</italic> and <italic>HNRNPU</italic> in patients with neurodevelopmental disability can help decipher genotype/phenotype correlations. In this study, we confirm that <italic>AK3, ZBTB18</italic> and <italic>HNRNPU</italic> are the main genes contributing to the phenotype of the 1q43q44 microdeletion syndrome, with each gene driving a specific feature although genetic interactions between these genes also exist.</p><p>Microcephaly has been reported in about half of the patients with 1q43q44 deletions. Previous genotype-phenotype correlation studies suggested that microcephaly is mainly associated with <italic>AKT3</italic> haploinsufficiency (Ballif et al. <xref ref-type="bibr" rid="CR1">2012</xref>; Gai et al. <xref ref-type="bibr" rid="CR15">2015</xref>; Nagamani et al. <xref ref-type="bibr" rid="CR26">2012</xref>; Thierry et al. <xref ref-type="bibr" rid="CR37">2012</xref>). Our data, analyzing the alignment of 49 deletions from patients with known OFC confirmed this correlation. The occurrence of microcephaly in patients with microdeletions restricted to <italic>AKT3</italic> (Ballif et al. <xref ref-type="bibr" rid="CR1">2012</xref>; Gai et al. <xref ref-type="bibr" rid="CR15">2015</xref>; Nagamani et al. <xref ref-type="bibr" rid="CR26">2012</xref>) narrows the minimal critical region to this single gene. This observation is consistent with a mirror phenotype consisting in macrocephaly in individuals with duplications encompassing <italic>AKT3</italic> and segmental hypertrophy (in the form of hemimegalencephaly or syndromic megalencephaly) in individuals with missense mutations leading to increased mTOR signaling that are usually—but not always—limited to mosaic brain tissues (Fig. <xref rid="Fig2" ref-type="fig">2</xref>a) (Conti et al. <xref ref-type="bibr" rid="CR7">2015</xref>; Lee et al. <xref ref-type="bibr" rid="CR21">2012</xref>; Poduri et al. <xref ref-type="bibr" rid="CR30">2012</xref>; Riviere et al. <xref ref-type="bibr" rid="CR32">2012</xref>; Wang et al. <xref ref-type="bibr" rid="CR38">2013</xref>; Nellist et al. <xref ref-type="bibr" rid="CR28">2015</xref>; Takagi et al. <xref ref-type="bibr" rid="CR36">2017</xref>). It also confirms that dosage of <italic>AKT3</italic> is crucial for controlling brain size during development. The observation of two patients and a healthy father with microdeletions limited to <italic>AKT3</italic> and normal brain size (Gai et al. <xref ref-type="bibr" rid="CR15">2015</xref>) suggests that <italic>AKT3</italic>-related microcephaly is not fully penetrant. Alternatively, the fact that <italic>AKT3</italic> deletions in patients with normal OFC alter the 3′ end of the gene could suggest that the region of <italic>AKT3</italic> critical for microcephaly encompasses at least the first 5 exons but not the 3′ coding part of the gene (Fig. <xref rid="Fig3" ref-type="fig">3</xref>a). This hypothesis is compatible with the description of three <italic>AKT3</italic> isoforms encoding two distinct proteins differing in their 3′ exons. No patient with constitutive point mutation leading to LoF of <italic>AKT3</italic> has been reported so far, so we were unable to compare the phenotype of patients with point mutations and microdeletions; but our data suggest that point mutations resulting in LoF of <italic>AKT3</italic>, especially if located in the 5′ exons common to the two known <italic>AKT3</italic> isoforms, would result in microcephaly with or without ID.</p><p>The preponderant role of <italic>AKT3</italic> in microcephaly does not exclude minor involvement of other genetic determinants. This is exemplified by the observation that: (1) three deletions sparing <italic>AKT3</italic> (one encompassing <italic>ZBTB18</italic> and <italic>HNRNPU</italic> and two <italic>HNRNPU</italic> but not <italic>ZBTB18</italic>) were also associated with microcephaly, and (2) all patients with deletion comprising <italic>AKT3</italic> but extending to and including <italic>ZBTB18</italic> and/or <italic>HNRNPU</italic> had microcephaly. The OFC is known for nine patients with <italic>ZBTB18</italic> mutations [from the literature (Table S6) and our series] and three have microcephaly. This observation, combined with the microcephaly phenotype described in <italic>Zbtb18</italic><sup>−/−</sup> mice, suggests that microcephaly can also be associated with <italic>ZBTB18</italic> mutations and deletions with a lower penetrance. In contrast, data from patients with <italic>HNRNPU</italic> mutations (Tables <xref rid="Tab1" ref-type="table">1</xref>, S5) shows that heterozygous loss of <italic>HNRNPU</italic> is rarely associated with microcephaly. Therefore, we suggest that: (1) <italic>AKT3</italic> haploinsufficiency is sufficient to cause microcephaly with high but incomplete penetrance, (2) the heterozygous loss of <italic>ZBTB18</italic> may cause microcephaly with a lower penetrance, and (3) other regions located more distally (including <italic>ZBTB18</italic>) may contribute to microcephaly in addition to <italic>AKT3</italic> deletion.</p><p>Previous genotype–phenotype correlation studies determined <italic>ZBTB18</italic> to be the main candidate gene for AnCC in the 1q43q44 deletion syndrome (Ballif et al. <xref ref-type="bibr" rid="CR1">2012</xref>; Nagamani et al. <xref ref-type="bibr" rid="CR26">2012</xref>; Thierry et al. <xref ref-type="bibr" rid="CR37">2012</xref>). This hypothesis was supported by the analysis of deletion alignments and by the absence of CC in mice lacking both copies of <italic>RP58,</italic> the murine homologue of <italic>ZBTB18</italic> (Xiang et al. <xref ref-type="bibr" rid="CR39">2012</xref>). However, the first three patients with heterozygous <italic>ZBTB18</italic> mutations were reported to have a normal CC (de Munnik et al. <xref ref-type="bibr" rid="CR9">2014</xref>; Lopes et al. <xref ref-type="bibr" rid="CR22">2016</xref>; Rauch et al. <xref ref-type="bibr" rid="CR31">2012</xref>). This unexpected result has been challenged by the recent report of AnCC in four patients with <italic>ZBTB18</italic> de novo mutations (Cohen et al. <xref ref-type="bibr" rid="CR6">2016</xref>). Similarly, three of our four patients with <italic>ZBTB18</italic> mutations had AnCC. Genotype–phenotype correlations in our series of patients with 1q43q44 deletions confirm that <italic>ZBTB18</italic> is the main gene driving AnCC in the 1qter region. However, 5/22 patients with <italic>ZBTB18</italic> haploinsufficiency and 4/11 with <italic>ZBTB18</italic> point mutations had normal CC, indicating that like for many other genes previously associated with AgCC in humans, the AnCC related to <italic>ZBTB18</italic> is not a fully penetrant trait. Interestingly, most <italic>ZBTB18</italic> point mutations are truncating or located in the functional zinc-finger domain of the ZBTB18 protein. This mutation spectrum suggests that missense mutations could also lead to a LoF of <italic>ZBTB18</italic>, although this has to be confirmed by functional studies.</p><p>Considering different categories of AnCC, it appeared that: (1) no patient with 1q43q44 deletion sparing <italic>ZBTB18</italic> had AgCC, (2) three patients carrying <italic>HNRNPU</italic> deletions sparing <italic>ZBTB18</italic> and two with <italic>HNRNPU</italic> point mutations had ThCC (one had DysCC), and (3) patients with <italic>ZBTB18</italic> point mutations had either partial AgCC, DysCC or ThCC. Thus, ThCC is the main category of AnCC observed when <italic>HNRNPU</italic> is deleted and is possibly related to insufficient myelination of crossing axons rather than indicating malformation of the CC. We conclude that <italic>ZBTB18</italic> haploinsufficiency predisposes to different types of AnCC, particularly partial AgCC, while <italic>HNRNPU</italic> anomalies are more specifically associated with ThCC. Furthermore, AgCC is significantly more frequent in patients with microdeletions comprising <italic>ZBTB18</italic> extending towards the telomeric end of the 1q region, i.e., encompassing both <italic>ZBTB18</italic> and <italic>HNRNPU,</italic> compared to those encompassing <italic>ZBTB18</italic> but sparing <italic>HNRNPU.</italic> This suggests that the loss of genetic determinant(s) in 3′ of the <italic>ZBTB18</italic> coding sequence or that the co-deletion of <italic>ZBTB18</italic> and <italic>HNRNPU</italic> has an additive effect resulting in AgCC. Moreover, the AgCC observed in patients with point mutations or small deletions altering mainly <italic>ZBTB18</italic> is partial and characterized by a small splenium with the absence of beak (patients #Z1 and #Z4 and #2, #3 and #5 in Cohen et al. <xref ref-type="bibr" rid="CR6">2016</xref>). However, complete or subtotal AgCC have been reported in patients with larger 1q deletions not included in our study (Boland et al. <xref ref-type="bibr" rid="CR3">2007</xref>; Caliebe et al. <xref ref-type="bibr" rid="CR4">2010</xref>; Hemming et al. <xref ref-type="bibr" rid="CR18">2016</xref>; Zaki et al. <xref ref-type="bibr" rid="CR41">2012</xref>), suggesting that one or more proximal genes on chromosome 1 could also lead or predispose to AgCC.</p><p>Two thirds of patients with 1q43q44 deletions have epilepsy. The minimal critical region for epilepsy included <italic>HNRNPU</italic> and <italic>COX20</italic>. <italic>COX20</italic> encodes a protein contributing to the assembly of mitochondrial cytochrome C oxidase and has been involved in a recessive disease with healthy heterozygous carriers (Doss et al. <xref ref-type="bibr" rid="CR10">2014</xref>; Szklarczyk et al. <xref ref-type="bibr" rid="CR35">2013</xref>). Thus, heterozygous deletions of <italic>COX20</italic> are unlikely to be responsible for the epilepsy phenotype. <italic>HNRNPU</italic> is the main gene accounting for seizures since: (1) epilepsy is present in 90% of patients with deletions comprising <italic>HNRNPU</italic> and absent in 14/15 patients with deletions sparing <italic>HNRNPU</italic>, and (2) all patients with constitutive <italic>HNRNPU</italic> mutations have epilepsy. The only epileptic patient with a deletion sparing <italic>HNRNPU</italic> had a deletion encompassing <italic>ZBTB18</italic>. Given that 3/11 patients with <italic>ZBTB18</italic> mutations, including two of our series, had seizures; epilepsy may also be a minor phenotypic trait in some patients with <italic>ZBTB18</italic> haploinsufficiency. The pro-epileptogenic effect of <italic>ZBTB18</italic> alteration could be masked by the strong penetrance of <italic>HNRNPU</italic>-related epilepsy in patients with loss of both genes.</p><p>The mean age at seizure onset in patients with <italic>HNRNPU</italic> point mutations from both our series and the literature (<italic>n</italic> = 9) was 13.5 months (median 8.5 months), versus 12.3 months (median 12 months) in individuals with deletions encompassing <italic>HNRNPU</italic> but sparing <italic>ZBTB18</italic> (<italic>n</italic> = 13) and 12.9 months (median 12 months) in patients with deletions encompassing both <italic>HNRNPU</italic> and <italic>ZBTB18</italic> (<italic>n</italic> = 7). These observations suggest that the age at seizure onset is independent of the size of the deletion, and that the loss of one <italic>HNRNPU</italic> allele is the strongest factor determining the age at seizure onset.</p><p>To date, available data did not reveal specific epileptic features in patients with <italic>HNRNPU</italic> mutations or deletions. Tonic–clonic seizures and atypical absences are the most frequently reported seizure types. Seizures occur with variable frequencies, are frequently triggered by fever at the onset of the disease and are pharmacoresistant in some patients. Diffuse or focal slow-waves or a slow background activity are recurrently reported on EEG recordings together with various epileptiform features.</p><p>ID is reported in almost all patients carrying 1q43q44 deletions, but its severity is frequently unmentioned. The only individuals without ID had a deletion limited to the whole <italic>AKT3</italic> gene (Gai et al. <xref ref-type="bibr" rid="CR15">2015</xref>). The cognitive abilities of other patients with microdeletions limited to <italic>AKT3</italic> are unknown but at least two of them were reported to have ID (Nagamani et al. <xref ref-type="bibr" rid="CR26">2012</xref>). All patients with <italic>ZBTB18</italic> mutations known to date have ID with variable degrees of severity, except one with “overall cognitive ability in the low average range” (Cohen et al. <xref ref-type="bibr" rid="CR6">2016</xref>). In contrast, no patients with <italic>HNRNPU</italic> mutation or with <italic>HNRNPU</italic> deletion and normal development have been reported.</p><p>Patients with <italic>ZBTB18</italic> mutations from the literature walked at a mean age of 28 months (<italic>n</italic> = 8) and 5/8 of them aged 3–37 years were not able to speak sentences or to associate several words. Thus, the impression of a relatively preserved development in patients with <italic>ZBTB18</italic> mutations from our series should probably be attenuated. These differences are apparently unrelated to the nature (missense <italic>versus</italic> truncating) of the mutation but likely to the small sample sizes. An overview of acquired developmental milestones in these series of patients shows that those with <italic>HNRNPU</italic> deletions or mutations have a globally more severe postural and speech delay that those with <italic>AKT3</italic>/<italic>ZBTB18</italic> deletions and those with <italic>ZBTB18</italic> mutations. Because the most severe group of patients have deletions encompassing <italic>HNRNPU, AKT3</italic> and <italic>ZBTB18,</italic> co-deletions of these three genes could have an additive detrimental effect on neurodevelopment.</p><p>In conclusion, the complete neurodevelopmental phenotype of the 1q43q44 microdeletion syndrome is the consequence of the deletion of three main genes spanning 1.36 Mb. Our data confirm that <italic>AKT3</italic> is the main gene driving microcephaly, <italic>ZBTB18</italic> defect is responsible for AnCC and <italic>HNRNPU</italic> is the main gene accounting for epilepsy. These correlations can be summarized as follows: (1) <italic>AKT3</italic> deletion causes microcephaly with incomplete penetrance but <italic>ZBTB18</italic> and <italic>HNRNPU</italic> deletions may also be involved with a weaker effect; (2) epilepsy and the loss of one <italic>HNRNPU</italic> allele are strongly associated; and (3) AgCC, is dependent on the loss of <italic>ZBTB18</italic> allele but is also influenced by the alteration of neighboring genes. Neurodevelopmental impairment in patients with <italic>ZBTB18</italic> LoF is more variable and less severe than that with <italic>HNRNPU</italic> LoF. Additional studies are required to investigate factors controlling this phenotypic variability in more details, including in particular the possibility of modifiers variants located on the <italic>trans</italic> allele.</p></sec><sec sec-type="supplementary-material"><title>Electronic supplementary material</title><sec id="Sec11"><p>Below is the link to the electronic supplementary material.
<supplementary-material content-type="local-data" id="MOESM1"><media xlink:href="439_2017_1772_MOESM1_ESM.jpg"><caption><p><bold>Figure S1</bold>. Alignment of all 1q43-q44 microdeletions included in this study. L1, L2, etc (literature) and D1, D2, etc (original series) in the left margin refer to patients’ identities used in the manuscript (JPEG 531 kb)</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="MOESM2"><media xlink:href="439_2017_1772_MOESM2_ESM.jpg"><caption><p><bold>Figure S2.</bold> Alignment of 1q43q44 deletions found in patients with microcephaly, anomalies of the corpus callosum and epilepsy. A. Alignment of deletions found in patients with (red bars) and without (blue bars) microcephaly showed a shift of microcephaly-associated deletions towards the centromere, i.e. encompassing <italic>AKT3</italic> (green vertical empty rectangle). B. Alignment of deletions according to the “CC status” (red bars = AgCC, pink bars = DysCC, green bars = ThCC, blue bars = normal CC) did not easily suggest the involvement of <italic>ZBTB18</italic> (blue vertical empty rectangle). C. Deletions found in patients with (red bars) and without (blue bars) epilepsy were shifted towards the telomeric end of the regions, suggesting the involvement of <italic>HNRNPU</italic> (orange vertical empty rectangle) (JPEG 2965 kb)</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="MOESM3"><media xlink:href="439_2017_1772_MOESM3_ESM.jpg"><caption><p><bold>Figure S3.</bold> Alignment of 1q43q44 deletions found in patients with normal and abnormal corpus callosum. These alignments show the different categories of AnCC (red bars = AgCC, pink bars = DysCC, green bars = ThCC and blue bars = normal CC) in patients with deletions of different sizes. They show that i) deletions comprising <italic>ZBTB18</italic> and <italic>AKT3</italic> but not HNRNPU (A) are associated with all types of AnCC, ii) deletions comprising <italic>HNRNPU</italic> but not <italic>ZBTB18</italic> and <italic>AKT3</italic> (C) are not associated with AgCC, iii) most AgCC are observed in patients with large deletions including <italic>ZBTB18</italic> and mostly extending to the telomere (B). (JPEG 767 kb)</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="MOESM4"><media xlink:href="439_2017_1772_MOESM4_ESM.tif"><caption><p><bold>Figure S4.</bold> Orthologous ZBTB18 protein alignments in the regions surrounding the three affected amino acids altered by missense mutation reported in this study (source: Alamut Visual) (TIFF 502 kb)</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="MOESM5"><media xlink:href="439_2017_1772_MOESM5_ESM.pdf"><caption><p><bold>Table S1</bold>. Probability of haploinsufficiency intolerance (pLI) calculated by the Exome Aggregation Consortium (ExAC) and haploinsufficiency score (HI) for genes of the 1q43q44 region comprised between genomic positions 239,990,618 to 249,208 (PDF 240 kb)</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="MOESM6"><media xlink:href="439_2017_1772_MOESM6_ESM.pdf"><caption><p><bold>Table S2</bold>. Genetic and clinical data from the 17 patients with 1q43q44 deletions (PDF 169 kb)</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="MOESM7"><media xlink:href="439_2017_1772_MOESM7_ESM.xlsx"><caption><p><bold>Table S3</bold>. Molecular and clinical data from 37 patients with 1q43q44 deletions in the literature (XLSX 29 kb)</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="MOESM8"><media xlink:href="439_2017_1772_MOESM8_ESM.pdf"><caption><p><bold>Table S4</bold>. Additional clinical data from the six patients with <italic>HNRNPU</italic> mutations (PDF 21 kb)</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="MOESM9"><media xlink:href="439_2017_1772_MOESM9_ESM.pdf"><caption><p><bold>Table S5</bold>. Clinical and molecular data from patients with <italic>HNRNPU</italic> mutations in the literature (PDF 113 kb)</p></caption></media></supplementary-material><supplementary-material content-type="local-data" id="MOESM10"><media xlink:href="439_2017_1772_MOESM10_ESM.xlsx"><caption><p><bold>Table S6</bold>. Clinical and molecular data from patients with <italic>ZBTB18</italic> mutations in the literature (XLSX 14 kb)</p></caption></media></supplementary-material></p></sec></sec></body><back><ack><title>Acknowledgements</title><p>The authors thank the families for their participation in this study and the Paris-Descartes Bioinformatics Platform for access to the Polyweb interface. This study makes use of data generated by the DECIPHER community. A full list of centres who contributed to the generation of the data is available from <ext-link ext-link-type="uri" xlink:href="http://decipher.sanger.ac.uk">http://decipher.sanger.ac.uk</ext-link> and via email from decipher@sanger.ac.uk. Funding for the project was provided by the Wellcome Trust. The DDD study presents independent research commissioned by the HealthInnovation Challenge Fund (Grant Number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (Grant numberWT098051). The views expressed in this publication are those of the author(s) and not necessarily those of the Wellcome Trust or the Department of Health. The study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12 granted by the Republic of Ireland REC). The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network.</p></ack><notes notes-type="COI-statement"><title>Compliance with ethical standards</title><sec id="FPar1"><title>Funding</title><p>This study was financially supported by the Assistance Publique des Hôpitaux de Paris (AP-HP), PHRC (no PO81260), INSERM, Fondation Maladies Rares, Fondation de France (FdF—Engt no 15144), Agence de la Biomédecine, Agence Nationale de la Recherche (ANR Blanc CILAXCAL), and the “Investissements d’Avenir” programme ANR-10-IAIHU-06 (IHU-A-ICM). Dr Solveig Heide was supported by a master grant from the Fondation pour la Recherche Médicale (FRM). CD and CN are members of the Biopsy labex.</p></sec><sec id="FPar2"><title>Conflict of interest</title><p>The authors declare no conflict of interest.</p></sec><sec id="d29e4008"><title>Ethical approval</title><p>The study received approval from local ethical standards committees on human experimentation.</p></sec><sec id="d29e4013"><title>Informed consent</title><p>Informed written consent was obtained from each individual or their parents or legal representatives before blood sampling.</p></sec></notes><ref-list id="Bib1"><title>References</title><ref id="CR1"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Ballif</surname><given-names>BC</given-names></name><name><surname>Rosenfeld</surname><given-names>JA</given-names></name><name><surname>Traylor</surname><given-names>R</given-names></name><name><surname>Theisen</surname><given-names>A</given-names></name><name><surname>Bader</surname><given-names>PI</given-names></name><name><surname>Ladda</surname><given-names>RL</given-names></name><name><surname>Sell</surname><given-names>SL</given-names></name><name><surname>Steinraths</surname><given-names>M</given-names></name><name><surname>Surti</surname><given-names>U</given-names></name><name><surname>McGuire</surname><given-names>M</given-names></name><name><surname>Williams</surname><given-names>S</given-names></name><name><surname>Farrell</surname><given-names>SA</given-names></name><name><surname>Filiano</surname><given-names>J</given-names></name><name><surname>Schnur</surname><given-names>RE</given-names></name><name><surname>Coffey</surname><given-names>LB</given-names></name><name><surname>Tervo</surname><given-names>RC</given-names></name><name><surname>Stroud</surname><given-names>T</given-names></name><name><surname>Marble</surname><given-names>M</given-names></name><name><surname>Netzloff</surname><given-names>M</given-names></name><name><surname>Hanson</surname><given-names>K</given-names></name><name><surname>Aylsworth</surname><given-names>AS</given-names></name><name><surname>Bamforth</surname><given-names>JS</given-names></name><name><surname>Babu</surname><given-names>D</given-names></name><name><surname>Niyazov</surname><given-names>DM</given-names></name><name><surname>Ravnan</surname><given-names>JB</given-names></name><name><surname>Schultz</surname><given-names>RA</given-names></name><name><surname>Lamb</surname><given-names>AN</given-names></name><name><surname>Torchia</surname><given-names>BS</given-names></name><name><surname>Bejjani</surname><given-names>BA</given-names></name><name><surname>Shaffer</surname><given-names>LG</given-names></name></person-group><article-title>High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44</article-title><source>Hum Genet</source><year>2012</year><volume>131</volume><fpage>145</fpage><lpage>156</lpage><pub-id pub-id-type="doi">10.1007/s00439-011-1073-y</pub-id><pub-id pub-id-type="pmid">21800092</pub-id></element-citation></ref><ref id="CR2"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Baubet</surname><given-names>V</given-names></name><name><surname>Xiang</surname><given-names>C</given-names></name><name><surname>Molczan</surname><given-names>A</given-names></name><name><surname>Roccograndi</surname><given-names>L</given-names></name><name><surname>Melamed</surname><given-names>S</given-names></name><name><surname>Dahmane</surname><given-names>N</given-names></name></person-group><article-title>Rp58 is essential for the growth and patterning of the cerebellum and for glutamatergic and GABAergic neuron development</article-title><source>Development</source><year>2012</year><volume>139</volume><fpage>1903</fpage><lpage>1909</lpage><pub-id pub-id-type="doi">10.1242/dev.075606</pub-id><pub-id pub-id-type="pmid">22513377</pub-id></element-citation></ref><ref id="CR3"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Boland</surname><given-names>E</given-names></name><name><surname>Clayton-Smith</surname><given-names>J</given-names></name><name><surname>Woo</surname><given-names>VG</given-names></name><name><surname>McKee</surname><given-names>S</given-names></name><name><surname>Manson</surname><given-names>FD</given-names></name><name><surname>Medne</surname><given-names>L</given-names></name><name><surname>Zackai</surname><given-names>E</given-names></name><name><surname>Swanson</surname><given-names>EA</given-names></name><name><surname>Fitzpatrick</surname><given-names>D</given-names></name><name><surname>Millen</surname><given-names>KJ</given-names></name><name><surname>Sherr</surname><given-names>EH</given-names></name><name><surname>Dobyns</surname><given-names>WB</given-names></name><name><surname>Black</surname><given-names>GC</given-names></name></person-group><article-title>Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum</article-title><source>Am J Hum Genet</source><year>2007</year><volume>81</volume><fpage>292</fpage><lpage>303</lpage><pub-id pub-id-type="doi">10.1086/519999</pub-id><pub-id pub-id-type="pmid">17668379</pub-id></element-citation></ref><ref id="CR4"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Caliebe</surname><given-names>A</given-names></name><name><surname>Kroes</surname><given-names>HY</given-names></name><name><surname>van der Smagt</surname><given-names>JJ</given-names></name><name><surname>Martin-Subero</surname><given-names>JI</given-names></name><name><surname>Tonnies</surname><given-names>H</given-names></name><name><surname>van’t Slot</surname><given-names>R</given-names></name><name><surname>Nievelstein</surname><given-names>RA</given-names></name><name><surname>Muhle</surname><given-names>H</given-names></name><name><surname>Stephani</surname><given-names>U</given-names></name><name><surname>Alfke</surname><given-names>K</given-names></name><name><surname>Stefanova</surname><given-names>I</given-names></name><name><surname>Hellenbroich</surname><given-names>Y</given-names></name><name><surname>Gillessen-Kaesbach</surname><given-names>G</given-names></name><name><surname>Hochstenbach</surname><given-names>R</given-names></name><name><surname>Siebert</surname><given-names>R</given-names></name><name><surname>Poot</surname><given-names>M</given-names></name></person-group><article-title>Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene</article-title><source>Eur J Med Genet</source><year>2010</year><volume>53</volume><fpage>179</fpage><lpage>185</lpage><pub-id pub-id-type="doi">10.1016/j.ejmg.2010.04.001</pub-id><pub-id pub-id-type="pmid">20382278</pub-id></element-citation></ref><ref id="CR5"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Carvill</surname><given-names>GL</given-names></name><name><surname>Heavin</surname><given-names>SB</given-names></name><name><surname>Yendle</surname><given-names>SC</given-names></name><name><surname>McMahon</surname><given-names>JM</given-names></name><name><surname>O’Roak</surname><given-names>BJ</given-names></name><name><surname>Cook</surname><given-names>J</given-names></name><name><surname>Khan</surname><given-names>A</given-names></name><name><surname>Dorschner</surname><given-names>MO</given-names></name><name><surname>Weaver</surname><given-names>M</given-names></name><name><surname>Calvert</surname><given-names>S</given-names></name><name><surname>Malone</surname><given-names>S</given-names></name><name><surname>Wallace</surname><given-names>G</given-names></name><name><surname>Stanley</surname><given-names>T</given-names></name><name><surname>Bye</surname><given-names>AM</given-names></name><name><surname>Bleasel</surname><given-names>A</given-names></name><name><surname>Howell</surname><given-names>KB</given-names></name><name><surname>Kivity</surname><given-names>S</given-names></name><name><surname>Mackay</surname><given-names>MT</given-names></name><name><surname>Rodriguez-Casero</surname><given-names>V</given-names></name><name><surname>Webster</surname><given-names>R</given-names></name><name><surname>Korczyn</surname><given-names>A</given-names></name><name><surname>Afawi</surname><given-names>Z</given-names></name><name><surname>Zelnick</surname><given-names>N</given-names></name><name><surname>Lerman-Sagie</surname><given-names>T</given-names></name><name><surname>Lev</surname><given-names>D</given-names></name><name><surname>Moller</surname><given-names>RS</given-names></name><name><surname>Gill</surname><given-names>D</given-names></name><name><surname>Andrade</surname><given-names>DM</given-names></name><name><surname>Freeman</surname><given-names>JL</given-names></name><name><surname>Sadleir</surname><given-names>LG</given-names></name><name><surname>Shendure</surname><given-names>J</given-names></name><name><surname>Berkovic</surname><given-names>SF</given-names></name><name><surname>Scheffer</surname><given-names>IE</given-names></name><name><surname>Mefford</surname><given-names>HC</given-names></name></person-group><article-title>Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1</article-title><source>Nat Genet</source><year>2013</year><volume>45</volume><fpage>825</fpage><lpage>830</lpage><pub-id pub-id-type="doi">10.1038/ng.2646</pub-id><pub-id pub-id-type="pmid">23708187</pub-id></element-citation></ref><ref id="CR6"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Cohen</surname><given-names>JS</given-names></name><name><surname>Srivastava</surname><given-names>S</given-names></name><name><surname>Farwell Hagman</surname><given-names>KD</given-names></name><name><surname>Shinde</surname><given-names>DN</given-names></name><name><surname>Huether</surname><given-names>R</given-names></name><name><surname>Darcy</surname><given-names>D</given-names></name><name><surname>Wallerstein</surname><given-names>R</given-names></name><name><surname>Houge</surname><given-names>G</given-names></name><name><surname>Berland</surname><given-names>S</given-names></name><name><surname>Monaghan</surname><given-names>KG</given-names></name><name><surname>Poretti</surname><given-names>A</given-names></name><name><surname>Wilson</surname><given-names>AL</given-names></name><name><surname>Chung</surname><given-names>WK</given-names></name><name><surname>Fatemi</surname><given-names>A</given-names></name></person-group><article-title>Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features</article-title><source>Clin Genet</source><year>2016</year><pub-id pub-id-type="pmid">27598823</pub-id></element-citation></ref><ref id="CR7"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Conti</surname><given-names>V</given-names></name><name><surname>Pantaleo</surname><given-names>M</given-names></name><name><surname>Barba</surname><given-names>C</given-names></name><name><surname>Baroni</surname><given-names>G</given-names></name><name><surname>Mei</surname><given-names>D</given-names></name><name><surname>Buccoliero</surname><given-names>AM</given-names></name><name><surname>Giglio</surname><given-names>S</given-names></name><name><surname>Giordano</surname><given-names>F</given-names></name><name><surname>Baek</surname><given-names>ST</given-names></name><name><surname>Gleeson</surname><given-names>JG</given-names></name><name><surname>Guerrini</surname><given-names>R</given-names></name></person-group><article-title>Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene</article-title><source>Clin Genet</source><year>2015</year><volume>88</volume><fpage>241</fpage><lpage>247</lpage><pub-id pub-id-type="doi">10.1111/cge.12476</pub-id><pub-id pub-id-type="pmid">25091978</pub-id></element-citation></ref><ref id="CR8"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>de Kovel</surname><given-names>CG</given-names></name><name><surname>Brilstra</surname><given-names>EH</given-names></name><name><surname>van Kempen</surname><given-names>MJ</given-names></name><name><surname>Van’t Slot</surname><given-names>R</given-names></name><name><surname>Nijman</surname><given-names>IJ</given-names></name><name><surname>Afawi</surname><given-names>Z</given-names></name><name><surname>De Jonghe</surname><given-names>P</given-names></name><name><surname>Djemie</surname><given-names>T</given-names></name><name><surname>Guerrini</surname><given-names>R</given-names></name><name><surname>Hardies</surname><given-names>K</given-names></name><name><surname>Helbig</surname><given-names>I</given-names></name><name><surname>Hendrickx</surname><given-names>R</given-names></name><name><surname>Kanaan</surname><given-names>M</given-names></name><name><surname>Kramer</surname><given-names>U</given-names></name><name><surname>Lehesjoki</surname><given-names>AE</given-names></name><name><surname>Lemke</surname><given-names>JR</given-names></name><name><surname>Marini</surname><given-names>C</given-names></name><name><surname>Mei</surname><given-names>D</given-names></name><name><surname>Moller</surname><given-names>RS</given-names></name><name><surname>Pendziwiat</surname><given-names>M</given-names></name><name><surname>Stamberger</surname><given-names>H</given-names></name><name><surname>Suls</surname><given-names>A</given-names></name><name><surname>Weckhuysen</surname><given-names>S</given-names></name><name><surname>Euro</surname><given-names>ERESC</given-names></name><name><surname>Koeleman</surname><given-names>BP</given-names></name></person-group><article-title>Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients</article-title><source>Mol Genet Genom Med</source><year>2016</year><volume>4</volume><fpage>568</fpage><lpage>580</lpage><pub-id pub-id-type="doi">10.1002/mgg3.235</pub-id></element-citation></ref><ref id="CR9"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>de Munnik</surname><given-names>SA</given-names></name><name><surname>Garcia-Minaur</surname><given-names>S</given-names></name><name><surname>Hoischen</surname><given-names>A</given-names></name><name><surname>van Bon</surname><given-names>BW</given-names></name><name><surname>Boycott</surname><given-names>KM</given-names></name><name><surname>Schoots</surname><given-names>J</given-names></name><name><surname>Hoefsloot</surname><given-names>LH</given-names></name><name><surname>Knoers</surname><given-names>NV</given-names></name><name><surname>Bongers</surname><given-names>EM</given-names></name><name><surname>Brunner</surname><given-names>HG</given-names></name></person-group><article-title>A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome</article-title><source>Eur J Hum Genet</source><year>2014</year><volume>22</volume><fpage>844</fpage><lpage>846</lpage><pub-id pub-id-type="doi">10.1038/ejhg.2013.249</pub-id><pub-id pub-id-type="pmid">24193349</pub-id></element-citation></ref><ref id="CR10"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Doss</surname><given-names>S</given-names></name><name><surname>Lohmann</surname><given-names>K</given-names></name><name><surname>Seibler</surname><given-names>P</given-names></name><name><surname>Arns</surname><given-names>B</given-names></name><name><surname>Klopstock</surname><given-names>T</given-names></name><name><surname>Zuhlke</surname><given-names>C</given-names></name><name><surname>Freimann</surname><given-names>K</given-names></name><name><surname>Winkler</surname><given-names>S</given-names></name><name><surname>Lohnau</surname><given-names>T</given-names></name><name><surname>Drungowski</surname><given-names>M</given-names></name><name><surname>Nurnberg</surname><given-names>P</given-names></name><name><surname>Wiegers</surname><given-names>K</given-names></name><name><surname>Lohmann</surname><given-names>E</given-names></name><name><surname>Naz</surname><given-names>S</given-names></name><name><surname>Kasten</surname><given-names>M</given-names></name><name><surname>Bohner</surname><given-names>G</given-names></name><name><surname>Ramirez</surname><given-names>A</given-names></name><name><surname>Endres</surname><given-names>M</given-names></name><name><surname>Klein</surname><given-names>C</given-names></name></person-group><article-title>Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation</article-title><source>J Neurol</source><year>2014</year><volume>261</volume><fpage>207</fpage><lpage>212</lpage><pub-id pub-id-type="doi">10.1007/s00415-013-7177-7</pub-id><pub-id pub-id-type="pmid">24202787</pub-id></element-citation></ref><ref id="CR11"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Du</surname><given-names>X</given-names></name><name><surname>An</surname><given-names>Y</given-names></name><name><surname>Yu</surname><given-names>L</given-names></name><name><surname>Liu</surname><given-names>R</given-names></name><name><surname>Qin</surname><given-names>Y</given-names></name><name><surname>Guo</surname><given-names>X</given-names></name><name><surname>Sun</surname><given-names>D</given-names></name><name><surname>Zhou</surname><given-names>S</given-names></name><name><surname>Wu</surname><given-names>B</given-names></name><name><surname>Jiang</surname><given-names>YH</given-names></name><name><surname>Wang</surname><given-names>Y</given-names></name></person-group><article-title>A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion</article-title><source>BMC Med Genet</source><year>2014</year><volume>15</volume><fpage>62</fpage><pub-id pub-id-type="doi">10.1186/1471-2350-15-62</pub-id><pub-id pub-id-type="pmid">24885232</pub-id></element-citation></ref><ref id="CR12"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Easton</surname><given-names>RM</given-names></name><name><surname>Cho</surname><given-names>H</given-names></name><name><surname>Roovers</surname><given-names>K</given-names></name><name><surname>Shineman</surname><given-names>DW</given-names></name><name><surname>Mizrahi</surname><given-names>M</given-names></name><name><surname>Forman</surname><given-names>MS</given-names></name><name><surname>Lee</surname><given-names>VM</given-names></name><name><surname>Szabolcs</surname><given-names>M</given-names></name><name><surname>de Jong</surname><given-names>R</given-names></name><name><surname>Oltersdorf</surname><given-names>T</given-names></name><name><surname>Ludwig</surname><given-names>T</given-names></name><name><surname>Efstratiadis</surname><given-names>A</given-names></name><name><surname>Birnbaum</surname><given-names>MJ</given-names></name></person-group><article-title>Role for Akt3/protein kinase Bgamma in attainment of normal brain size</article-title><source>Mol Cell Biol</source><year>2005</year><volume>25</volume><fpage>1869</fpage><lpage>1878</lpage><pub-id pub-id-type="doi">10.1128/MCB.25.5.1869-1878.2005</pub-id><pub-id pub-id-type="pmid">15713641</pub-id></element-citation></ref><ref id="CR13"><element-citation publication-type="journal"><person-group person-group-type="author"><collab>Epi4K consortium</collab><collab>Epilepsy Phenome/Genome P</collab><name><surname>Allen</surname><given-names>AS</given-names></name><name><surname>Berkovic</surname><given-names>SF</given-names></name><name><surname>Cossette</surname><given-names>P</given-names></name><name><surname>Delanty</surname><given-names>N</given-names></name><name><surname>Dlugos</surname><given-names>D</given-names></name><name><surname>Eichler</surname><given-names>EE</given-names></name><name><surname>Epstein</surname><given-names>MP</given-names></name><name><surname>Glauser</surname><given-names>T</given-names></name><name><surname>Goldstein</surname><given-names>DB</given-names></name><name><surname>Han</surname><given-names>Y</given-names></name><name><surname>Heinzen</surname><given-names>EL</given-names></name><name><surname>Hitomi</surname><given-names>Y</given-names></name><name><surname>Howell</surname><given-names>KB</given-names></name><name><surname>Johnson</surname><given-names>MR</given-names></name><name><surname>Kuzniecky</surname><given-names>R</given-names></name><name><surname>Lowenstein</surname><given-names>DH</given-names></name><name><surname>Lu</surname><given-names>YF</given-names></name><name><surname>Madou</surname><given-names>MR</given-names></name><name><surname>Marson</surname><given-names>AG</given-names></name><name><surname>Mefford</surname><given-names>HC</given-names></name><name><surname>Esmaeeli Nieh</surname><given-names>S</given-names></name><name><surname>O’Brien</surname><given-names>TJ</given-names></name><name><surname>Ottman</surname><given-names>R</given-names></name><name><surname>Petrovski</surname><given-names>S</given-names></name><name><surname>Poduri</surname><given-names>A</given-names></name><name><surname>Ruzzo</surname><given-names>EK</given-names></name><name><surname>Scheffer</surname><given-names>IE</given-names></name><name><surname>Sherr</surname><given-names>EH</given-names></name><name><surname>Yuskaitis</surname><given-names>CJ</given-names></name><name><surname>Abou-Khalil</surname><given-names>B</given-names></name><name><surname>Alldredge</surname><given-names>BK</given-names></name><name><surname>Bautista</surname><given-names>JF</given-names></name><name><surname>Berkovic</surname><given-names>SF</given-names></name><name><surname>Boro</surname><given-names>A</given-names></name><name><surname>Cascino</surname><given-names>GD</given-names></name><name><surname>Consalvo</surname><given-names>D</given-names></name><name><surname>Crumrine</surname><given-names>P</given-names></name><name><surname>Devinsky</surname><given-names>O</given-names></name><name><surname>Dlugos</surname><given-names>D</given-names></name><name><surname>Epstein</surname><given-names>MP</given-names></name><name><surname>Fiol</surname><given-names>M</given-names></name><name><surname>Fountain</surname><given-names>NB</given-names></name><name><surname>French</surname><given-names>J</given-names></name><name><surname>Friedman</surname><given-names>D</given-names></name><name><surname>Geller</surname><given-names>EB</given-names></name><name><surname>Glauser</surname><given-names>T</given-names></name><name><surname>Glynn</surname><given-names>S</given-names></name><name><surname>Haut</surname><given-names>SR</given-names></name><name><surname>Hayward</surname><given-names>J</given-names></name><name><surname>Helmers</surname><given-names>SL</given-names></name><name><surname>Joshi</surname><given-names>S</given-names></name><name><surname>Kanner</surname><given-names>A</given-names></name><name><surname>Kirsch</surname><given-names>HE</given-names></name><name><surname>Knowlton</surname><given-names>RC</given-names></name><name><surname>Kossoff</surname><given-names>EH</given-names></name><name><surname>Kuperman</surname><given-names>R</given-names></name><name><surname>Kuzniecky</surname><given-names>R</given-names></name><name><surname>Lowenstein</surname><given-names>DH</given-names></name><name><surname>McGuire</surname><given-names>SM</given-names></name><name><surname>Motika</surname><given-names>PV</given-names></name><name><surname>Novotny</surname><given-names>EJ</given-names></name><name><surname>Ottman</surname><given-names>R</given-names></name><name><surname>Paolicchi</surname><given-names>JM</given-names></name><name><surname>Parent</surname><given-names>JM</given-names></name><name><surname>Park</surname><given-names>K</given-names></name><name><surname>Poduri</surname><given-names>A</given-names></name><name><surname>Scheffer</surname><given-names>IE</given-names></name><name><surname>Shellhaas</surname><given-names>RA</given-names></name><name><surname>Sherr</surname><given-names>EH</given-names></name><name><surname>Shih</surname><given-names>JJ</given-names></name><name><surname>Singh</surname><given-names>R</given-names></name><name><surname>Sirven</surname><given-names>J</given-names></name><name><surname>Smith</surname><given-names>MC</given-names></name><name><surname>Sullivan</surname><given-names>J</given-names></name><name><surname>Lin Thio</surname><given-names>L</given-names></name><name><surname>Venkat</surname><given-names>A</given-names></name><name><surname>Vining</surname><given-names>EP</given-names></name><name><surname>Von Allmen</surname><given-names>GK</given-names></name><name><surname>Weisenberg</surname><given-names>JL</given-names></name><name><surname>Widdess-Walsh</surname><given-names>P</given-names></name><name><surname>Winawer</surname><given-names>MR</given-names></name></person-group><article-title>De novo mutations in epileptic encephalopathies</article-title><source>Nature</source><year>2013</year><volume>501</volume><fpage>217</fpage><lpage>221</lpage><pub-id pub-id-type="doi">10.1038/nature12439</pub-id><pub-id pub-id-type="pmid">23934111</pub-id></element-citation></ref><ref id="CR14"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Firth</surname><given-names>HV</given-names></name><name><surname>Richards</surname><given-names>SM</given-names></name><name><surname>Bevan</surname><given-names>AP</given-names></name><name><surname>Clayton</surname><given-names>S</given-names></name><name><surname>Corpas</surname><given-names>M</given-names></name><name><surname>Rajan</surname><given-names>D</given-names></name><name><surname>Van Vooren</surname><given-names>S</given-names></name><name><surname>Moreau</surname><given-names>Y</given-names></name><name><surname>Pettett</surname><given-names>RM</given-names></name><name><surname>Carter</surname><given-names>NP</given-names></name></person-group><article-title>DECIPHER: database of chromosomal imbalance and phenotype in humans using ensembl resources</article-title><source>Am J Hum Genet</source><year>2009</year><volume>84</volume><fpage>524</fpage><lpage>533</lpage><pub-id pub-id-type="doi">10.1016/j.ajhg.2009.03.010</pub-id><pub-id pub-id-type="pmid">19344873</pub-id></element-citation></ref><ref id="CR15"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Gai</surname><given-names>D</given-names></name><name><surname>Haan</surname><given-names>E</given-names></name><name><surname>Scholar</surname><given-names>M</given-names></name><name><surname>Nicholl</surname><given-names>J</given-names></name><name><surname>Yu</surname><given-names>S</given-names></name></person-group><article-title>Phenotypes of AKT3 deletion: a case report and literature review</article-title><source>Am J Med Genet A</source><year>2015</year><volume>167A</volume><fpage>174</fpage><lpage>179</lpage><pub-id pub-id-type="doi">10.1002/ajmg.a.36710</pub-id><pub-id pub-id-type="pmid">25424989</pub-id></element-citation></ref><ref id="CR16"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Gupta</surname><given-names>R</given-names></name><name><surname>Agarwal</surname><given-names>M</given-names></name><name><surname>Boqqula</surname><given-names>VR</given-names></name><name><surname>Phadke</surname><given-names>RV</given-names></name><name><surname>Phadke</surname><given-names>SR</given-names></name></person-group><article-title>Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: causal or chance association</article-title><source>Am J Med Genet A</source><year>2014</year><volume>164A</volume><fpage>186</fpage><lpage>189</lpage><pub-id pub-id-type="doi">10.1002/ajmg.a.36198</pub-id><pub-id pub-id-type="pmid">24214579</pub-id></element-citation></ref><ref id="CR17"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Hamdan</surname><given-names>FF</given-names></name><name><surname>Srour</surname><given-names>M</given-names></name><name><surname>Capo-Chichi</surname><given-names>JM</given-names></name><name><surname>Daoud</surname><given-names>H</given-names></name><name><surname>Nassif</surname><given-names>C</given-names></name><name><surname>Patry</surname><given-names>L</given-names></name><name><surname>Massicotte</surname><given-names>C</given-names></name><name><surname>Ambalavanan</surname><given-names>A</given-names></name><name><surname>Spiegelman</surname><given-names>D</given-names></name><name><surname>Diallo</surname><given-names>O</given-names></name><name><surname>Henrion</surname><given-names>E</given-names></name><name><surname>Dionne-Laporte</surname><given-names>A</given-names></name><name><surname>Fougerat</surname><given-names>A</given-names></name><name><surname>Pshezhetsky</surname><given-names>AV</given-names></name><name><surname>Venkateswaran</surname><given-names>S</given-names></name><name><surname>Rouleau</surname><given-names>GA</given-names></name><name><surname>Michaud</surname><given-names>JL</given-names></name></person-group><article-title>De novo mutations in moderate or severe intellectual disability</article-title><source>PLoS Genet</source><year>2014</year><volume>10</volume><fpage>e1004772</fpage><pub-id pub-id-type="doi">10.1371/journal.pgen.1004772</pub-id><pub-id pub-id-type="pmid">25356899</pub-id></element-citation></ref><ref id="CR18"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Hemming</surname><given-names>IA</given-names></name><name><surname>Forrest</surname><given-names>AR</given-names></name><name><surname>Shipman</surname><given-names>P</given-names></name><name><surname>Woodward</surname><given-names>KJ</given-names></name><name><surname>Walsh</surname><given-names>P</given-names></name><name><surname>Ravine</surname><given-names>DG</given-names></name><name><surname>Heng</surname><given-names>JI</given-names></name></person-group><article-title>Reinforcing the association between distal 1q CNVs and structural brain disorder: a case of a complex 1q43-q44 CNV and a review of the literature</article-title><source>Am J Med Genet B Neuropsychiatr Genet</source><year>2016</year><volume>171B</volume><fpage>458</fpage><lpage>467</lpage><pub-id pub-id-type="doi">10.1002/ajmg.b.32427</pub-id><pub-id pub-id-type="pmid">26853090</pub-id></element-citation></ref><ref id="CR19"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Heng</surname><given-names>JI</given-names></name><name><surname>Qu</surname><given-names>Z</given-names></name><name><surname>Ohtaka-Maruyama</surname><given-names>C</given-names></name><name><surname>Okado</surname><given-names>H</given-names></name><name><surname>Kasai</surname><given-names>M</given-names></name><name><surname>Castro</surname><given-names>D</given-names></name><name><surname>Guillemot</surname><given-names>F</given-names></name><name><surname>Tan</surname><given-names>SS</given-names></name></person-group><article-title>The zinc finger transcription factor RP58 negatively regulates Rnd2 for the control of neuronal migration during cerebral cortical development</article-title><source>Cereb Cortex</source><year>2015</year><volume>25</volume><fpage>806</fpage><lpage>816</lpage><pub-id pub-id-type="doi">10.1093/cercor/bht277</pub-id><pub-id pub-id-type="pmid">24084125</pub-id></element-citation></ref><ref id="CR20"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Huang</surname><given-names>N</given-names></name><name><surname>Lee</surname><given-names>I</given-names></name><name><surname>Marcotte</surname><given-names>EM</given-names></name><name><surname>Hurles</surname><given-names>ME</given-names></name></person-group><article-title>Characterising and predicting haploinsufficiency in the human genome</article-title><source>PLoS Genet</source><year>2010</year><volume>6</volume><fpage>e1001154</fpage><pub-id pub-id-type="doi">10.1371/journal.pgen.1001154</pub-id><pub-id pub-id-type="pmid">20976243</pub-id></element-citation></ref><ref id="CR21"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Lee</surname><given-names>JH</given-names></name><name><surname>Huynh</surname><given-names>M</given-names></name><name><surname>Silhavy</surname><given-names>JL</given-names></name><name><surname>Kim</surname><given-names>S</given-names></name><name><surname>Dixon-Salazar</surname><given-names>T</given-names></name><name><surname>Heiberg</surname><given-names>A</given-names></name><name><surname>Scott</surname><given-names>E</given-names></name><name><surname>Bafna</surname><given-names>V</given-names></name><name><surname>Hill</surname><given-names>KJ</given-names></name><name><surname>Collazo</surname><given-names>A</given-names></name><name><surname>Funari</surname><given-names>V</given-names></name><name><surname>Russ</surname><given-names>C</given-names></name><name><surname>Gabriel</surname><given-names>SB</given-names></name><name><surname>Mathern</surname><given-names>GW</given-names></name><name><surname>Gleeson</surname><given-names>JG</given-names></name></person-group><article-title>De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly</article-title><source>Nat Genet</source><year>2012</year><volume>44</volume><fpage>941</fpage><lpage>945</lpage><pub-id pub-id-type="doi">10.1038/ng.2329</pub-id><pub-id pub-id-type="pmid">22729223</pub-id></element-citation></ref><ref id="CR22"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Lopes</surname><given-names>F</given-names></name><name><surname>Barbosa</surname><given-names>M</given-names></name><name><surname>Ameur</surname><given-names>A</given-names></name><name><surname>Soares</surname><given-names>G</given-names></name><name><surname>de Sa</surname><given-names>J</given-names></name><name><surname>Dias</surname><given-names>AI</given-names></name><name><surname>Oliveira</surname><given-names>G</given-names></name><name><surname>Cabral</surname><given-names>P</given-names></name><name><surname>Temudo</surname><given-names>T</given-names></name><name><surname>Calado</surname><given-names>E</given-names></name><name><surname>Cruz</surname><given-names>IF</given-names></name><name><surname>Vieira</surname><given-names>JP</given-names></name><name><surname>Oliveira</surname><given-names>R</given-names></name><name><surname>Esteves</surname><given-names>S</given-names></name><name><surname>Sauer</surname><given-names>S</given-names></name><name><surname>Jonasson</surname><given-names>I</given-names></name><name><surname>Syvanen</surname><given-names>AC</given-names></name><name><surname>Gyllensten</surname><given-names>U</given-names></name><name><surname>Pinto</surname><given-names>D</given-names></name><name><surname>Maciel</surname><given-names>P</given-names></name></person-group><article-title>Identification of novel genetic causes of Rett syndrome-like phenotypes</article-title><source>J Med Genet</source><year>2016</year><volume>53</volume><fpage>190</fpage><lpage>199</lpage><pub-id pub-id-type="doi">10.1136/jmedgenet-2015-103568</pub-id><pub-id pub-id-type="pmid">26740508</pub-id></element-citation></ref><ref id="CR23"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Mignot</surname><given-names>C</given-names></name><name><surname>Moutard</surname><given-names>ML</given-names></name><name><surname>Rastetter</surname><given-names>A</given-names></name><name><surname>Boutaud</surname><given-names>L</given-names></name><name><surname>Heide</surname><given-names>S</given-names></name><name><surname>Billette</surname><given-names>T</given-names></name><name><surname>Doummar</surname><given-names>D</given-names></name><name><surname>Garel</surname><given-names>C</given-names></name><name><surname>Afenjar</surname><given-names>A</given-names></name><name><surname>Jacquette</surname><given-names>A</given-names></name><name><surname>Lacombe</surname><given-names>D</given-names></name><name><surname>Verloes</surname><given-names>A</given-names></name><name><surname>Bole-Feysot</surname><given-names>C</given-names></name><name><surname>Nitschke</surname><given-names>P</given-names></name><name><surname>Masson</surname><given-names>C</given-names></name><name><surname>Faudet</surname><given-names>A</given-names></name><name><surname>Lesne</surname><given-names>F</given-names></name><name><surname>Bienvenu</surname><given-names>T</given-names></name><name><surname>Alby</surname><given-names>C</given-names></name><name><surname>Attie-Bitach</surname><given-names>T</given-names></name><name><surname>Depienne</surname><given-names>C</given-names></name><name><surname>Nava</surname><given-names>C</given-names></name><name><surname>Heron</surname><given-names>D</given-names></name></person-group><article-title>ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability</article-title><source>Brain</source><year>2016</year></element-citation></ref><ref id="CR24"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Mirzaa</surname><given-names>GM</given-names></name><name><surname>Riviere</surname><given-names>JB</given-names></name><name><surname>Dobyns</surname><given-names>WB</given-names></name></person-group><article-title>Megalencephaly syndromes and activating mutations in the PI3 K-AKT pathway: MPPH and MCAP</article-title><source>Am J Med Genet C Semin Med Genet</source><year>2013</year><volume>163C</volume><fpage>122</fpage><lpage>130</lpage><pub-id pub-id-type="doi">10.1002/ajmg.c.31361</pub-id><pub-id pub-id-type="pmid">23592320</pub-id></element-citation></ref><ref id="CR25"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Monroe</surname><given-names>GR</given-names></name><name><surname>Frederix</surname><given-names>GW</given-names></name><name><surname>Savelberg</surname><given-names>SM</given-names></name><name><surname>de Vries</surname><given-names>TI</given-names></name><name><surname>Duran</surname><given-names>KJ</given-names></name><name><surname>van der Smagt</surname><given-names>JJ</given-names></name><name><surname>Terhal</surname><given-names>PA</given-names></name><name><surname>van Hasselt</surname><given-names>PM</given-names></name><name><surname>Kroes</surname><given-names>HY</given-names></name><name><surname>Verhoeven-Duif</surname><given-names>NM</given-names></name><name><surname>Nijman</surname><given-names>IJ</given-names></name><name><surname>Carbo</surname><given-names>EC</given-names></name><name><surname>van Gassen</surname><given-names>KL</given-names></name><name><surname>Knoers</surname><given-names>NV</given-names></name><name><surname>Hovels</surname><given-names>AM</given-names></name><name><surname>van Haelst</surname><given-names>MM</given-names></name><name><surname>Visser</surname><given-names>G</given-names></name><name><surname>van Haaften</surname><given-names>G</given-names></name></person-group><article-title>Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability</article-title><source>Genet Med</source><year>2016</year><volume>18</volume><fpage>949</fpage><lpage>956</lpage><pub-id pub-id-type="doi">10.1038/gim.2015.200</pub-id><pub-id pub-id-type="pmid">26845106</pub-id></element-citation></ref><ref id="CR26"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Nagamani</surname><given-names>SC</given-names></name><name><surname>Erez</surname><given-names>A</given-names></name><name><surname>Bay</surname><given-names>C</given-names></name><name><surname>Pettigrew</surname><given-names>A</given-names></name><name><surname>Lalani</surname><given-names>SR</given-names></name><name><surname>Herman</surname><given-names>K</given-names></name><name><surname>Graham</surname><given-names>BH</given-names></name><name><surname>Nowaczyk</surname><given-names>MJ</given-names></name><name><surname>Proud</surname><given-names>M</given-names></name><name><surname>Craigen</surname><given-names>WJ</given-names></name><name><surname>Hopkins</surname><given-names>B</given-names></name><name><surname>Kozel</surname><given-names>B</given-names></name><name><surname>Plunkett</surname><given-names>K</given-names></name><name><surname>Hixson</surname><given-names>P</given-names></name><name><surname>Stankiewicz</surname><given-names>P</given-names></name><name><surname>Patel</surname><given-names>A</given-names></name><name><surname>Cheung</surname><given-names>SW</given-names></name></person-group><article-title>Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44</article-title><source>Eur J Hum Genet</source><year>2012</year><volume>20</volume><fpage>176</fpage><lpage>179</lpage><pub-id pub-id-type="doi">10.1038/ejhg.2011.171</pub-id><pub-id pub-id-type="pmid">21934713</pub-id></element-citation></ref><ref id="CR27"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Need</surname><given-names>AC</given-names></name><name><surname>Shashi</surname><given-names>V</given-names></name><name><surname>Hitomi</surname><given-names>Y</given-names></name><name><surname>Schoch</surname><given-names>K</given-names></name><name><surname>Shianna</surname><given-names>KV</given-names></name><name><surname>McDonald</surname><given-names>MT</given-names></name><name><surname>Meisler</surname><given-names>MH</given-names></name><name><surname>Goldstein</surname><given-names>DB</given-names></name></person-group><article-title>Clinical application of exome sequencing in undiagnosed genetic conditions</article-title><source>J Med Genet</source><year>2012</year><volume>49</volume><fpage>353</fpage><lpage>361</lpage><pub-id pub-id-type="doi">10.1136/jmedgenet-2012-100819</pub-id><pub-id pub-id-type="pmid">22581936</pub-id></element-citation></ref><ref id="CR28"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Nellist</surname><given-names>M</given-names></name><name><surname>Schot</surname><given-names>R</given-names></name><name><surname>Hoogeveen-Westerveld</surname><given-names>M</given-names></name><name><surname>Neuteboom</surname><given-names>RF</given-names></name><name><surname>van der Louw</surname><given-names>EJ</given-names></name><name><surname>Lequin</surname><given-names>MH</given-names></name><name><surname>Bindels-de Heus</surname><given-names>K</given-names></name><name><surname>Sibbles</surname><given-names>BJ</given-names></name><name><surname>de Coo</surname><given-names>R</given-names></name><name><surname>Brooks</surname><given-names>A</given-names></name><name><surname>Mancini</surname><given-names>GM</given-names></name></person-group><article-title>Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia</article-title><source>Mol Genet Metab</source><year>2015</year><volume>114</volume><issue>3</issue><fpage>467</fpage><lpage>473</lpage><pub-id pub-id-type="doi">10.1016/j.ymgme.2014.11.018</pub-id><pub-id pub-id-type="pmid">25523067</pub-id></element-citation></ref><ref id="CR29"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Perlman</surname><given-names>SJ</given-names></name><name><surname>Kulkarni</surname><given-names>S</given-names></name><name><surname>Manwaring</surname><given-names>L</given-names></name><name><surname>Shinawi</surname><given-names>M</given-names></name></person-group><article-title>Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions</article-title><source>Am J Med Genet A</source><year>2013</year><volume>161A</volume><fpage>711</fpage><lpage>716</lpage><pub-id pub-id-type="doi">10.1002/ajmg.a.35779</pub-id><pub-id pub-id-type="pmid">23494996</pub-id></element-citation></ref><ref id="CR30"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Poduri</surname><given-names>A</given-names></name><name><surname>Evrony</surname><given-names>GD</given-names></name><name><surname>Cai</surname><given-names>X</given-names></name><name><surname>Elhosary</surname><given-names>PC</given-names></name><name><surname>Beroukhim</surname><given-names>R</given-names></name><name><surname>Lehtinen</surname><given-names>MK</given-names></name><name><surname>Hills</surname><given-names>LB</given-names></name><name><surname>Heinzen</surname><given-names>EL</given-names></name><name><surname>Hill</surname><given-names>A</given-names></name><name><surname>Hill</surname><given-names>RS</given-names></name><name><surname>Barry</surname><given-names>BJ</given-names></name><name><surname>Bourgeois</surname><given-names>BF</given-names></name><name><surname>Riviello</surname><given-names>JJ</given-names></name><name><surname>Barkovich</surname><given-names>AJ</given-names></name><name><surname>Black</surname><given-names>PM</given-names></name><name><surname>Ligon</surname><given-names>KL</given-names></name><name><surname>Walsh</surname><given-names>CA</given-names></name></person-group><article-title>Somatic activation of AKT3 causes hemispheric developmental brain malformations</article-title><source>Neuron</source><year>2012</year><volume>74</volume><fpage>41</fpage><lpage>48</lpage><pub-id pub-id-type="doi">10.1016/j.neuron.2012.03.010</pub-id><pub-id pub-id-type="pmid">22500628</pub-id></element-citation></ref><ref id="CR31"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Rauch</surname><given-names>A</given-names></name><name><surname>Wieczorek</surname><given-names>D</given-names></name><name><surname>Graf</surname><given-names>E</given-names></name><name><surname>Wieland</surname><given-names>T</given-names></name><name><surname>Endele</surname><given-names>S</given-names></name><name><surname>Schwarzmayr</surname><given-names>T</given-names></name><name><surname>Albrecht</surname><given-names>B</given-names></name><name><surname>Bartholdi</surname><given-names>D</given-names></name><name><surname>Beygo</surname><given-names>J</given-names></name><name><surname>Di Donato</surname><given-names>N</given-names></name><name><surname>Dufke</surname><given-names>A</given-names></name><name><surname>Cremer</surname><given-names>K</given-names></name><name><surname>Hempel</surname><given-names>M</given-names></name><name><surname>Horn</surname><given-names>D</given-names></name><name><surname>Hoyer</surname><given-names>J</given-names></name><name><surname>Joset</surname><given-names>P</given-names></name><name><surname>Ropke</surname><given-names>A</given-names></name><name><surname>Moog</surname><given-names>U</given-names></name><name><surname>Riess</surname><given-names>A</given-names></name><name><surname>Thiel</surname><given-names>CT</given-names></name><name><surname>Tzschach</surname><given-names>A</given-names></name><name><surname>Wiesener</surname><given-names>A</given-names></name><name><surname>Wohlleber</surname><given-names>E</given-names></name><name><surname>Zweier</surname><given-names>C</given-names></name><name><surname>Ekici</surname><given-names>AB</given-names></name><name><surname>Zink</surname><given-names>AM</given-names></name><name><surname>Rump</surname><given-names>A</given-names></name><name><surname>Meisinger</surname><given-names>C</given-names></name><name><surname>Grallert</surname><given-names>H</given-names></name><name><surname>Sticht</surname><given-names>H</given-names></name><name><surname>Schenck</surname><given-names>A</given-names></name><name><surname>Engels</surname><given-names>H</given-names></name><name><surname>Rappold</surname><given-names>G</given-names></name><name><surname>Schrock</surname><given-names>E</given-names></name><name><surname>Wieacker</surname><given-names>P</given-names></name><name><surname>Riess</surname><given-names>O</given-names></name><name><surname>Meitinger</surname><given-names>T</given-names></name><name><surname>Reis</surname><given-names>A</given-names></name><name><surname>Strom</surname><given-names>TM</given-names></name></person-group><article-title>Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study</article-title><source>Lancet</source><year>2012</year><volume>380</volume><fpage>1674</fpage><lpage>1682</lpage><pub-id pub-id-type="doi">10.1016/S0140-6736(12)61480-9</pub-id><pub-id pub-id-type="pmid">23020937</pub-id></element-citation></ref><ref id="CR32"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Riviere</surname><given-names>JB</given-names></name><name><surname>Mirzaa</surname><given-names>GM</given-names></name><name><surname>O’Roak</surname><given-names>BJ</given-names></name><name><surname>Beddaoui</surname><given-names>M</given-names></name><name><surname>Alcantara</surname><given-names>D</given-names></name><name><surname>Conway</surname><given-names>RL</given-names></name><name><surname>St-Onge</surname><given-names>J</given-names></name><name><surname>Schwartzentruber</surname><given-names>JA</given-names></name><name><surname>Gripp</surname><given-names>KW</given-names></name><name><surname>Nikkel</surname><given-names>SM</given-names></name><name><surname>Worthylake</surname><given-names>T</given-names></name><name><surname>Sullivan</surname><given-names>CT</given-names></name><name><surname>Ward</surname><given-names>TR</given-names></name><name><surname>Butler</surname><given-names>HE</given-names></name><name><surname>Kramer</surname><given-names>NA</given-names></name><name><surname>Albrecht</surname><given-names>B</given-names></name><name><surname>Armour</surname><given-names>CM</given-names></name><name><surname>Armstrong</surname><given-names>L</given-names></name><name><surname>Caluseriu</surname><given-names>O</given-names></name><name><surname>Cytrynbaum</surname><given-names>C</given-names></name><name><surname>Drolet</surname><given-names>BA</given-names></name><name><surname>Innes</surname><given-names>AM</given-names></name><name><surname>Lauzon</surname><given-names>JL</given-names></name><name><surname>Lin</surname><given-names>AE</given-names></name><name><surname>Mancini</surname><given-names>GM</given-names></name><name><surname>Meschino</surname><given-names>WS</given-names></name><name><surname>Reggin</surname><given-names>JD</given-names></name><name><surname>Saggar</surname><given-names>AK</given-names></name><name><surname>Lerman-Sagie</surname><given-names>T</given-names></name><name><surname>Uyanik</surname><given-names>G</given-names></name><name><surname>Weksberg</surname><given-names>R</given-names></name><name><surname>Zirn</surname><given-names>B</given-names></name><name><surname>Beaulieu</surname><given-names>CL</given-names></name><collab>Finding of Rare Disease Genes Canada C</collab><name><surname>Majewski</surname><given-names>J</given-names></name><name><surname>Bulman</surname><given-names>DE</given-names></name><name><surname>O’Driscoll</surname><given-names>M</given-names></name><name><surname>Shendure</surname><given-names>J</given-names></name><name><surname>Graham</surname><given-names>JM</given-names><suffix>Jr</suffix></name><name><surname>Boycott</surname><given-names>KM</given-names></name><name><surname>Dobyns</surname><given-names>WB</given-names></name></person-group><article-title>De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes</article-title><source>Nat Genet</source><year>2012</year><volume>44</volume><fpage>934</fpage><lpage>940</lpage><pub-id pub-id-type="doi">10.1038/ng.2331</pub-id><pub-id pub-id-type="pmid">22729224</pub-id></element-citation></ref><ref id="CR33"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Roshon</surname><given-names>MJ</given-names></name><name><surname>Ruley</surname><given-names>HE</given-names></name></person-group><article-title>Hypomorphic mutation in hnRNP U results in post-implantation lethality</article-title><source>Transgenic Res</source><year>2005</year><volume>14</volume><fpage>179</fpage><lpage>192</lpage><pub-id pub-id-type="doi">10.1007/s11248-004-8147-8</pub-id><pub-id pub-id-type="pmid">16022389</pub-id></element-citation></ref><ref id="CR34"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Sobreira</surname><given-names>N</given-names></name><name><surname>Schiettecatte</surname><given-names>F</given-names></name><name><surname>Valle</surname><given-names>D</given-names></name><name><surname>Hamosh</surname><given-names>A</given-names></name></person-group><article-title>GeneMatcher: a matching tool for connecting investigators with an interest in the same gene</article-title><source>Hum Mutat</source><year>2015</year><volume>36</volume><fpage>928</fpage><lpage>930</lpage><pub-id pub-id-type="doi">10.1002/humu.22844</pub-id><pub-id pub-id-type="pmid">26220891</pub-id></element-citation></ref><ref id="CR35"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Szklarczyk</surname><given-names>R</given-names></name><name><surname>Wanschers</surname><given-names>BF</given-names></name><name><surname>Nijtmans</surname><given-names>LG</given-names></name><name><surname>Rodenburg</surname><given-names>RJ</given-names></name><name><surname>Zschocke</surname><given-names>J</given-names></name><name><surname>Dikow</surname><given-names>N</given-names></name><name><surname>van den Brand</surname><given-names>MA</given-names></name><name><surname>Hendriks-Franssen</surname><given-names>MG</given-names></name><name><surname>Gilissen</surname><given-names>C</given-names></name><name><surname>Veltman</surname><given-names>JA</given-names></name><name><surname>Nooteboom</surname><given-names>M</given-names></name><name><surname>Koopman</surname><given-names>WJ</given-names></name><name><surname>Willems</surname><given-names>PH</given-names></name><name><surname>Smeitink</surname><given-names>JA</given-names></name><name><surname>Huynen</surname><given-names>MA</given-names></name><name><surname>van den Heuvel</surname><given-names>LP</given-names></name></person-group><article-title>A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia</article-title><source>Hum Mol Genet</source><year>2013</year><volume>22</volume><fpage>656</fpage><lpage>667</lpage><pub-id pub-id-type="doi">10.1093/hmg/dds473</pub-id><pub-id pub-id-type="pmid">23125284</pub-id></element-citation></ref><ref id="CR36"><mixed-citation publication-type="other">Takagi M, Dobashi K, Nagahara K, Kato M, Nishimura G, Fukuzawa R, Narumi S, Hasegawa T (2017) A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. Am J Med Genet A. doi:10.1002/ajmg.a.38099<bold>(Epub ahead of print)</bold></mixed-citation></ref><ref id="CR37"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Thierry</surname><given-names>G</given-names></name><name><surname>Beneteau</surname><given-names>C</given-names></name><name><surname>Pichon</surname><given-names>O</given-names></name><name><surname>Flori</surname><given-names>E</given-names></name><name><surname>Isidor</surname><given-names>B</given-names></name><name><surname>Popelard</surname><given-names>F</given-names></name><name><surname>Delrue</surname><given-names>MA</given-names></name><name><surname>Duboscq-Bidot</surname><given-names>L</given-names></name><name><surname>Thuresson</surname><given-names>AC</given-names></name><name><surname>van Bon</surname><given-names>BW</given-names></name><name><surname>Cailley</surname><given-names>D</given-names></name><name><surname>Rooryck</surname><given-names>C</given-names></name><name><surname>Paubel</surname><given-names>A</given-names></name><name><surname>Metay</surname><given-names>C</given-names></name><name><surname>Dusser</surname><given-names>A</given-names></name><name><surname>Pasquier</surname><given-names>L</given-names></name><name><surname>Beri</surname><given-names>M</given-names></name><name><surname>Bonnet</surname><given-names>C</given-names></name><name><surname>Jaillard</surname><given-names>S</given-names></name><name><surname>Dubourg</surname><given-names>C</given-names></name><name><surname>Tou</surname><given-names>B</given-names></name><name><surname>Quere</surname><given-names>MP</given-names></name><name><surname>Soussi-Zander</surname><given-names>C</given-names></name><name><surname>Toutain</surname><given-names>A</given-names></name><name><surname>Lacombe</surname><given-names>D</given-names></name><name><surname>Arveiler</surname><given-names>B</given-names></name><name><surname>de Vries</surname><given-names>BB</given-names></name><name><surname>Jonveaux</surname><given-names>P</given-names></name><name><surname>David</surname><given-names>A</given-names></name><name><surname>Le Caignec</surname><given-names>C</given-names></name></person-group><article-title>Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures</article-title><source>Am J Med Genet A</source><year>2012</year><volume>158A</volume><fpage>1633</fpage><lpage>1640</lpage><pub-id pub-id-type="doi">10.1002/ajmg.a.35423</pub-id><pub-id pub-id-type="pmid">22678713</pub-id></element-citation></ref><ref id="CR38"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Wang</surname><given-names>D</given-names></name><name><surname>Zeesman</surname><given-names>S</given-names></name><name><surname>Tarnopolsky</surname><given-names>MA</given-names></name><name><surname>Nowaczyk</surname><given-names>MJ</given-names></name></person-group><article-title>Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44</article-title><source>Am J Med Genet A</source><year>2013</year><volume>161A</volume><fpage>2016</fpage><lpage>2019</lpage><pub-id pub-id-type="doi">10.1002/ajmg.a.35999</pub-id><pub-id pub-id-type="pmid">23794269</pub-id></element-citation></ref><ref id="CR39"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Xiang</surname><given-names>C</given-names></name><name><surname>Baubet</surname><given-names>V</given-names></name><name><surname>Pal</surname><given-names>S</given-names></name><name><surname>Holderbaum</surname><given-names>L</given-names></name><name><surname>Tatard</surname><given-names>V</given-names></name><name><surname>Jiang</surname><given-names>P</given-names></name><name><surname>Davuluri</surname><given-names>RV</given-names></name><name><surname>Dahmane</surname><given-names>N</given-names></name></person-group><article-title>RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion</article-title><source>Cell Death Differ</source><year>2012</year><volume>19</volume><fpage>692</fpage><lpage>702</lpage><pub-id pub-id-type="doi">10.1038/cdd.2011.144</pub-id><pub-id pub-id-type="pmid">22095278</pub-id></element-citation></ref><ref id="CR40"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Ye</surname><given-names>J</given-names></name><name><surname>Beetz</surname><given-names>N</given-names></name><name><surname>O’Keeffe</surname><given-names>S</given-names></name><name><surname>Tapia</surname><given-names>JC</given-names></name><name><surname>Macpherson</surname><given-names>L</given-names></name><name><surname>Chen</surname><given-names>WV</given-names></name><name><surname>Bassel-Duby</surname><given-names>R</given-names></name><name><surname>Olson</surname><given-names>EN</given-names></name><name><surname>Maniatis</surname><given-names>T</given-names></name></person-group><article-title>hnRNP U protein is required for normal pre-mRNA splicing and postnatal heart development and function</article-title><source>Proc Natl Acad Sci USA</source><year>2015</year><volume>112</volume><fpage>E3020</fpage><lpage>E3029</lpage><pub-id pub-id-type="doi">10.1073/pnas.1508461112</pub-id><pub-id pub-id-type="pmid">26039991</pub-id></element-citation></ref><ref id="CR41"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Zaki</surname><given-names>MS</given-names></name><name><surname>Gillessen-Kaesbach</surname><given-names>G</given-names></name><name><surname>Vater</surname><given-names>I</given-names></name><name><surname>Caliebe</surname><given-names>A</given-names></name><name><surname>Siebert</surname><given-names>R</given-names></name><name><surname>Kamel</surname><given-names>AK</given-names></name><name><surname>Mohamed</surname><given-names>AM</given-names></name><name><surname>Mazen</surname><given-names>I</given-names></name></person-group><article-title>Bladder exstrophy and extreme genital anomaly in a patient with pure terminal 1q deletion: expansion of phenotypic spectrum</article-title><source>Eur J Med Genet</source><year>2012</year><volume>55</volume><fpage>43</fpage><lpage>48</lpage><pub-id pub-id-type="doi">10.1016/j.ejmg.2011.09.003</pub-id><pub-id pub-id-type="pmid">22061479</pub-id></element-citation></ref><ref id="CR42"><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Zhu</surname><given-names>X</given-names></name><name><surname>Petrovski</surname><given-names>S</given-names></name><name><surname>Xie</surname><given-names>P</given-names></name><name><surname>Ruzzo</surname><given-names>EK</given-names></name><name><surname>Lu</surname><given-names>YF</given-names></name><name><surname>McSweeney</surname><given-names>KM</given-names></name><name><surname>Ben-Zeev</surname><given-names>B</given-names></name><name><surname>Nissenkorn</surname><given-names>A</given-names></name><name><surname>Anikster</surname><given-names>Y</given-names></name><name><surname>Oz-Levi</surname><given-names>D</given-names></name><name><surname>Dhindsa</surname><given-names>RS</given-names></name><name><surname>Hitomi</surname><given-names>Y</given-names></name><name><surname>Schoch</surname><given-names>K</given-names></name><name><surname>Spillmann</surname><given-names>RC</given-names></name><name><surname>Heimer</surname><given-names>G</given-names></name><name><surname>Marek-Yagel</surname><given-names>D</given-names></name><name><surname>Tzadok</surname><given-names>M</given-names></name><name><surname>Han</surname><given-names>Y</given-names></name><name><surname>Worley</surname><given-names>G</given-names></name><name><surname>Goldstein</surname><given-names>J</given-names></name><name><surname>Jiang</surname><given-names>YH</given-names></name><name><surname>Lancet</surname><given-names>D</given-names></name><name><surname>Pras</surname><given-names>E</given-names></name><name><surname>Shashi</surname><given-names>V</given-names></name><name><surname>McHale</surname><given-names>D</given-names></name><name><surname>Need</surname><given-names>AC</given-names></name><name><surname>Goldstein</surname><given-names>DB</given-names></name></person-group><article-title>Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios</article-title><source>Genet Med</source><year>2015</year><volume>17</volume><fpage>774</fpage><lpage>781</lpage><pub-id pub-id-type="doi">10.1038/gim.2014.191</pub-id><pub-id pub-id-type="pmid">25590979</pub-id></element-citation></ref><ref-list id="BSec1"><title>Urls/Resources</title><ref id="CR47"><mixed-citation publication-type="other">BIOBASE HGMD Professional: <ext-link ext-link-type="uri" xlink:href="http://www.biobase-international.com/product/hgmd">http://www.biobase-international.com/product/hgmd</ext-link></mixed-citation></ref><ref id="CR45"><mixed-citation publication-type="other">Exome Variant Server: <ext-link ext-link-type="uri" xlink:href="http://evs.gs.washington.edu/EVS/">http://evs.gs.washington.edu/EVS/</ext-link></mixed-citation></ref><ref id="CR46"><mixed-citation publication-type="other">ExAC Browser (Beta) | Exome Aggregation Consortium: <ext-link ext-link-type="uri" xlink:href="http://exac.broadinstitute.org/">http://exac.broadinstitute.org/</ext-link></mixed-citation></ref><ref id="CR48"><mixed-citation publication-type="other">GeneMatcher: https://genematcher.org/</mixed-citation></ref><ref id="CR43"><mixed-citation publication-type="other">NCBI Pubmed: <ext-link ext-link-type="uri" xlink:href="http://www.ncbi.nlm.nih.gov/pubmed">http://www.ncbi.nlm.nih.gov/pubmed</ext-link></mixed-citation></ref><ref id="CR44"><mixed-citation publication-type="other">Uniprot: <ext-link ext-link-type="uri" xlink:href="http://www.uniprot.org/">http://www.uniprot.org/</ext-link></mixed-citation></ref></ref-list></ref-list></back></pmc></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Pmc/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000D30 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 000D30 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Pmc
|étape= Corpus
|type= RBID
|clé=
|texte=
}}
| This area was generated with Dilib version V0.6.33. |  |