AustralieFrV1, Main, Exploration, bibRecord, 002085

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Identifieur interne : 002085 ( Main/Exploration ); précédent : 002084; suivant : 002086

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Auteurs : Holly A. F. Stessman [États-Unis] ; Marjolein H. Willemsen [Pays-Bas] ; Michaela Fenckova [Pays-Bas] ; Osnat Penn [États-Unis] ; Alexander Hoischen [Pays-Bas] ; Bo Xiong [États-Unis] ; Tianyun Wang [République populaire de Chine] ; Kendra Hoekzema [États-Unis] ; Laura Vives [États-Unis] ; Ida Vogel [Danemark] ; Han G. Brunner [Pays-Bas] ; Ineke Van Der Burgt [Pays-Bas] ; Charlotte W. Ockeloen [Pays-Bas] ; Janneke H. Schuurs-Hoeijmakers [Pays-Bas] ; Jolien S. Klein Wassink-Ruiter [Pays-Bas] ; Connie Stumpel [Pays-Bas] ; Servi J. C. Stevens [Pays-Bas] ; Hans S. Vles [Pays-Bas] ; Carlo M. Marcelis [Pays-Bas] ; Hans Van Bokhoven [Pays-Bas] ; Vincent Cantagrel [France] ; Laurence Colleaux [France] ; Michael Nicouleau [France] ; Stanislas Lyonnet [France] ; Raphael A. Bernier [États-Unis] ; Jennifer Gerdts [États-Unis] ; Bradley P. Coe [États-Unis] ; Corrado Romano [Italie] ; Antonino Alberti [Italie] ; Lucia Grillo [Italie] ; Carmela Scuderi [Italie] ; Magnus Nordenskjöld [Suède] ; Malin Kvarnung [Suède] ; Hui Guo [République populaire de Chine] ; Kun Xia [République populaire de Chine] ; Amélie Piton [France] ; Bénédicte Gerard [France] ; David Genevieve [France] ; Bruno Delobel [France] ; Daphne Lehalle [France] ; Laurence Perrin [France] ; Fabienne Prieur [France] ; Julien Thevenon [France] ; Jozef Gecz [Australie] ; Marie Shaw [Australie] ; Rolph Pfundt [Pays-Bas] ; Boris Keren [France] ; Aurelia Jacquette [France] ; Annette Schenck [Pays-Bas] ; Evan E. Eichler [États-Unis] ; Tjitske Kleefstra [Pays-Bas]

Source :

American Journal of Human Genetics [ 0002-9297 ] ; 2016.

RBID : PMC:4890241

Descripteurs français

English descriptors

KwdEn :
- Adolescent, Adult, Animals, Autism Spectrum Disorder (diagnosis), Autism Spectrum Disorder (genetics), Child, Child, Preschool, Cohort Studies, Down-Regulation, Drosophila (genetics), Drosophila Proteins (genetics), Drosophila Proteins (metabolism), Exome, Female, Gene Knockdown Techniques, Genome-Wide Association Study, Humans, Infant, Intellectual Disability (diagnosis), Intellectual Disability (genetics), Language Development Disorders (diagnosis), Language Development Disorders (genetics), Linear Models, Male, Microcephaly (diagnosis), Microcephaly (genetics), Mutation, Phenotype, Transcription Factors (genetics), Transcription Factors (metabolism), Transposases (genetics).
MESH :
- chemical , genetics : Drosophila Proteins, Transcription Factors, Transposases.
- diagnosis : Autism Spectrum Disorder, Intellectual Disability, Language Development Disorders, Microcephaly.
- genetics : Autism Spectrum Disorder, Drosophila, Intellectual Disability, Language Development Disorders, Microcephaly.
- chemical , metabolism : Drosophila Proteins, Transcription Factors.
- Adolescent, Adult, Animals, Child, Child, Preschool, Cohort Studies, Down-Regulation, Exome, Female, Gene Knockdown Techniques, Genome-Wide Association Study, Humans, Infant, Linear Models, Male, Mutation, Phenotype.

Abstract

Intellectual disability (ID) and autism spectrum disorders (ASD) are genetically heterogeneous, and a significant number of genes have been associated with both conditions. A few mutations in POGZ have been reported in recent exome studies; however, these studies do not provide detailed clinical information. We collected the clinical and molecular data of 25 individuals with disruptive mutations in POGZ by diagnostic whole-exome, whole-genome, or targeted sequencing of 5,223 individuals with neurodevelopmental disorders (ID primarily) or by targeted resequencing of this locus in 12,041 individuals with ASD and/or ID. The rarity of disruptive mutations among unaffected individuals (2/49,401) highlights the significance (p = 4.19 × 10⁻¹³; odds ratio = 35.8) and penetrance (65.9%) of this genetic subtype with respect to ASD and ID. By studying the entire cohort, we defined common phenotypic features of POGZ individuals, including variable levels of developmental delay (DD) and more severe speech and language delay in comparison to the severity of motor delay and coordination issues. We also identified significant associations with vision problems, microcephaly, hyperactivity, a tendency to obesity, and feeding difficulties. Some features might be explained by the high expression of POGZ, particularly in the cerebellum and pituitary, early in fetal brain development. We conducted parallel studies in Drosophila by inducing conditional knockdown of the POGZ ortholog row, further confirming that dosage of POGZ, specifically in neurons, is essential for normal learning in a habituation paradigm. Combined, the data underscore the pathogenicity of loss-of-function mutations in POGZ and define a POGZ-related phenotype enriched in specific features.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4890241

DOI: 10.1016/j.ajhg.2016.02.004
PubMed: 26942287
PubMed Central: 4890241

Affiliations:

Le document en format XML

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<author><name sortKey="Brunner, Han G" sort="Brunner, Han G" uniqKey="Brunner H" first="Han G." last="Brunner">Han G. Brunner</name>
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<author><name sortKey="Van Der Burgt, Ineke" sort="Van Der Burgt, Ineke" uniqKey="Van Der Burgt I" first="Ineke" last="Van Der Burgt">Ineke Van Der Burgt</name>
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<author><name sortKey="Ockeloen, Charlotte W" sort="Ockeloen, Charlotte W" uniqKey="Ockeloen C" first="Charlotte W." last="Ockeloen">Charlotte W. Ockeloen</name>
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<wicri:regionArea>Department of Genetics, University of Groningen and University Medical Center Groningen, 9700 RB Groningen</wicri:regionArea>
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<author><name sortKey="Stumpel, Connie" sort="Stumpel, Connie" uniqKey="Stumpel C" first="Connie" last="Stumpel">Connie Stumpel</name>
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<author><name sortKey="Stevens, Servi J C" sort="Stevens, Servi J C" uniqKey="Stevens S" first="Servi J. C." last="Stevens">Servi J. C. Stevens</name>
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<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht</wicri:regionArea>
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<author><name sortKey="Vles, Hans S" sort="Vles, Hans S" uniqKey="Vles H" first="Hans S." last="Vles">Hans S. Vles</name>
<affiliation wicri:level="1"><nlm:aff id="aff8">Department of Neurologie, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Neurologie, Maastricht University Medical Center+, 6229 HX Maastricht</wicri:regionArea>
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<author><name sortKey="Marcelis, Carlo M" sort="Marcelis, Carlo M" uniqKey="Marcelis C" first="Carlo M." last="Marcelis">Carlo M. Marcelis</name>
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<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
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<author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
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<affiliation wicri:level="1"><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
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<author><name sortKey="Cantagrel, Vincent" sort="Cantagrel, Vincent" uniqKey="Cantagrel V" first="Vincent" last="Cantagrel">Vincent Cantagrel</name>
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<affiliation wicri:level="1"><nlm:aff id="aff10">Paris Descartes University – Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff>
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<author><name sortKey="Colleaux, Laurence" sort="Colleaux, Laurence" uniqKey="Colleaux L" first="Laurence" last="Colleaux">Laurence Colleaux</name>
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<affiliation wicri:level="1"><nlm:aff id="aff10">Paris Descartes University – Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff>
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<author><name sortKey="Nicouleau, Michael" sort="Nicouleau, Michael" uniqKey="Nicouleau M" first="Michael" last="Nicouleau">Michael Nicouleau</name>
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<affiliation wicri:level="1"><nlm:aff id="aff10">Paris Descartes University – Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff>
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<author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris</wicri:regionArea>
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<region type="région" nuts="2">Île-de-France</region>
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<affiliation wicri:level="1"><nlm:aff id="aff10">Paris Descartes University – Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris Descartes University – Sorbonne Paris Cité, Imagine Institute, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff11">Departments of Genetics, Hôpital Necker – Enfants Malades, Assistance Publique – Hôpitaux de Paris, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Departments of Genetics, Hôpital Necker – Enfants Malades, Assistance Publique – Hôpitaux de Paris, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bernier, Raphael A" sort="Bernier, Raphael A" uniqKey="Bernier R" first="Raphael A." last="Bernier">Raphael A. Bernier</name>
<affiliation wicri:level="4"><nlm:aff id="aff12">Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Gerdts, Jennifer" sort="Gerdts, Jennifer" uniqKey="Gerdts J" first="Jennifer" last="Gerdts">Jennifer Gerdts</name>
<affiliation wicri:level="4"><nlm:aff id="aff12">Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Coe, Bradley P" sort="Coe, Bradley P" uniqKey="Coe B" first="Bradley P." last="Coe">Bradley P. Coe</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Romano, Corrado" sort="Romano, Corrado" uniqKey="Romano C" first="Corrado" last="Romano">Corrado Romano</name>
<affiliation wicri:level="1"><nlm:aff id="aff13">Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina</wicri:regionArea>
<wicri:noRegion>94018 Troina</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Alberti, Antonino" sort="Alberti, Antonino" uniqKey="Alberti A" first="Antonino" last="Alberti">Antonino Alberti</name>
<affiliation wicri:level="1"><nlm:aff id="aff13">Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina</wicri:regionArea>
<wicri:noRegion>94018 Troina</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Grillo, Lucia" sort="Grillo, Lucia" uniqKey="Grillo L" first="Lucia" last="Grillo">Lucia Grillo</name>
<affiliation wicri:level="1"><nlm:aff id="aff14">Laboratory of Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Laboratory of Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina</wicri:regionArea>
<wicri:noRegion>94018 Troina</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Scuderi, Carmela" sort="Scuderi, Carmela" uniqKey="Scuderi C" first="Carmela" last="Scuderi">Carmela Scuderi</name>
<affiliation wicri:level="1"><nlm:aff id="aff15">Neuromuscular Diseases Unit, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Neuromuscular Diseases Unit, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina</wicri:regionArea>
<wicri:noRegion>94018 Troina</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nordenskjold, Magnus" sort="Nordenskjold, Magnus" uniqKey="Nordenskjold M" first="Magnus" last="Nordenskjöld">Magnus Nordenskjöld</name>
<affiliation wicri:level="1"><nlm:aff id="aff16">Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna</wicri:regionArea>
<wicri:noRegion>171 77 Solna</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kvarnung, Malin" sort="Kvarnung, Malin" uniqKey="Kvarnung M" first="Malin" last="Kvarnung">Malin Kvarnung</name>
<affiliation wicri:level="1"><nlm:aff id="aff16">Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna</wicri:regionArea>
<wicri:noRegion>171 77 Solna</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Guo, Hui" sort="Guo, Hui" uniqKey="Guo H" first="Hui" last="Guo">Hui Guo</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China</nlm:aff>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078</wicri:regionArea>
<wicri:noRegion>Hunan 410078</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Xia, Kun" sort="Xia, Kun" uniqKey="Xia K" first="Kun" last="Xia">Kun Xia</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China</nlm:aff>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Piton, Amelie" sort="Piton, Amelie" uniqKey="Piton A" first="Amélie" last="Piton">Amélie Piton</name>
<affiliation wicri:level="1"><nlm:aff id="aff17">Department of Translational Medicine and Neurogenetics, Institut Génétique Biologie Moléculaire Cellulaire, 67400 Illkirch, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Translational Medicine and Neurogenetics, Institut Génétique Biologie Moléculaire Cellulaire, 67400 Illkirch</wicri:regionArea>
<wicri:noRegion>67400 Illkirch</wicri:noRegion>
<wicri:noRegion>67400 Illkirch</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff18">Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg</wicri:regionArea>
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<placeName><settlement type="city">Strasbourg</settlement>
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<region type="old region" nuts="2">Alsace (région administrative)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gerard, Benedicte" sort="Gerard, Benedicte" uniqKey="Gerard B" first="Bénédicte" last="Gerard">Bénédicte Gerard</name>
<affiliation wicri:level="1"><nlm:aff id="aff18">Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg</wicri:regionArea>
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<placeName><settlement type="city">Strasbourg</settlement>
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<region type="old region" nuts="2">Alsace (région administrative)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Genevieve">David Genevieve</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique Médicale, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hôpital Arnaud de Villeneuve, 34090 Montpellier</wicri:regionArea>
<wicri:noRegion>34090 Montpellier</wicri:noRegion>
<placeName><settlement type="city">Montpellier</settlement>
<region type="region" nuts="2">Occitanie (région administrative)</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Delobel, Bruno" sort="Delobel, Bruno" uniqKey="Delobel B" first="Bruno" last="Delobel">Bruno Delobel</name>
<affiliation wicri:level="1"><nlm:aff id="aff20">Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul, Groupement des Hôpitaux de l’Institut Catholique de Lille, 59000 Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul, Groupement des Hôpitaux de l’Institut Catholique de Lille, 59000 Lille</wicri:regionArea>
<wicri:noRegion>59000 Lille</wicri:noRegion>
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</affiliation>
</author>
<author><name sortKey="Lehalle, Daphne" sort="Lehalle, Daphne" uniqKey="Lehalle D" first="Daphne" last="Lehalle">Daphne Lehalle</name>
<affiliation wicri:level="1"><nlm:aff id="aff21">Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l’Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l’Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon</wicri:regionArea>
<wicri:noRegion>21079 Dijon</wicri:noRegion>
<wicri:noRegion>21079 Dijon</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Perrin, Laurence" sort="Perrin, Laurence" uniqKey="Perrin L" first="Laurence" last="Perrin">Laurence Perrin</name>
<affiliation wicri:level="1"><nlm:aff id="aff22">Service de Génétique Clinique, Hôpital Robert Debré, 75019 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Clinique, Hôpital Robert Debré, 75019 Paris</wicri:regionArea>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Prieur, Fabienne" sort="Prieur, Fabienne" uniqKey="Prieur F" first="Fabienne" last="Prieur">Fabienne Prieur</name>
<affiliation wicri:level="1"><nlm:aff id="aff23">Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de Saint-Étienne, 42100 Saint-Étienne, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de Saint-Étienne, 42100 Saint-Étienne</wicri:regionArea>
<wicri:noRegion>42100 Saint-Étienne</wicri:noRegion>
<wicri:noRegion>42100 Saint-Étienne</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Thevenon, Julien" sort="Thevenon, Julien" uniqKey="Thevenon J" first="Julien" last="Thevenon">Julien Thevenon</name>
<affiliation wicri:level="1"><nlm:aff id="aff21">Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l’Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l’Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
<affiliation wicri:level="1"><nlm:aff id="aff24">Robinson Research Institute, University of Adelaide and Women’s and Children’s Hospital, North Adelaide SA 5006, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
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</author>
<author><name sortKey="Shaw, Marie" sort="Shaw, Marie" uniqKey="Shaw M" first="Marie" last="Shaw">Marie Shaw</name>
<affiliation wicri:level="1"><nlm:aff id="aff24">Robinson Research Institute, University of Adelaide and Women’s and Children’s Hospital, North Adelaide SA 5006, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
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</author>
<author><name sortKey="Pfundt, Rolph" sort="Pfundt, Rolph" uniqKey="Pfundt R" first="Rolph" last="Pfundt">Rolph Pfundt</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Keren, Boris" sort="Keren, Boris" uniqKey="Keren B" first="Boris" last="Keren">Boris Keren</name>
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<country xml:lang="fr">France</country>
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<affiliation wicri:level="4"><nlm:aff id="aff26">INSERM UM75 and U1127, CNRS UMR7225, Université Pierre et Marie Curie (Paris 6) and Institut du Cerveau et de la Moelle épinière, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
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</author>
<author><name sortKey="Jacquette, Aurelia" sort="Jacquette, Aurelia" uniqKey="Jacquette A" first="Aurelia" last="Jacquette">Aurelia Jacquette</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique – Hôpitaux de Paris, 75013 Paris</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Schenck, Annette" sort="Schenck, Annette" uniqKey="Schenck A" first="Annette" last="Schenck">Annette Schenck</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
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</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
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</affiliation>
</author>
<author><name sortKey="Eichler, Evan E" sort="Eichler, Evan E" uniqKey="Eichler E" first="Evan E." last="Eichler">Evan E. Eichler</name>
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</placeName>
<orgName type="university">Université de Washington</orgName>
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<affiliation wicri:level="2"><nlm:aff id="aff27">Howard Hughes Medical Institute, Seattle, WA 98195, USA</nlm:aff>
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</affiliation>
</author>
<author><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name>
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<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
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</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Disruption of <italic>POGZ</italic>
 Is Associated with Intellectual Disability and Autism Spectrum Disorders</title>
<author><name sortKey="Stessman, Holly A F" sort="Stessman, Holly A F" uniqKey="Stessman H" first="Holly A. F." last="Stessman">Holly A. F. Stessman</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Willemsen, Marjolein H" sort="Willemsen, Marjolein H" uniqKey="Willemsen M" first="Marjolein H." last="Willemsen">Marjolein H. Willemsen</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fenckova, Michaela" sort="Fenckova, Michaela" uniqKey="Fenckova M" first="Michaela" last="Fenckova">Michaela Fenckova</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Penn, Osnat" sort="Penn, Osnat" uniqKey="Penn O" first="Osnat" last="Penn">Osnat Penn</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Hoischen, Alexander" sort="Hoischen, Alexander" uniqKey="Hoischen A" first="Alexander" last="Hoischen">Alexander Hoischen</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Xiong, Bo" sort="Xiong, Bo" uniqKey="Xiong B" first="Bo" last="Xiong">Bo Xiong</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Wang, Tianyun" sort="Wang, Tianyun" uniqKey="Wang T" first="Tianyun" last="Wang">Tianyun Wang</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China</nlm:aff>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078</wicri:regionArea>
<wicri:noRegion>Hunan 410078</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hoekzema, Kendra" sort="Hoekzema, Kendra" uniqKey="Hoekzema K" first="Kendra" last="Hoekzema">Kendra Hoekzema</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Vives, Laura" sort="Vives, Laura" uniqKey="Vives L" first="Laura" last="Vives">Laura Vives</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Vogel, Ida" sort="Vogel, Ida" uniqKey="Vogel I" first="Ida" last="Vogel">Ida Vogel</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Department of Clinical Genetics, Aarhus University Hospital, Skejby, 8000 Aarhus, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Genetics, Aarhus University Hospital, Skejby, 8000 Aarhus</wicri:regionArea>
<wicri:noRegion>8000 Aarhus</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Brunner, Han G" sort="Brunner, Han G" uniqKey="Brunner H" first="Han G." last="Brunner">Han G. Brunner</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff6">Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht</wicri:regionArea>
<wicri:noRegion>6229 HX Maastricht</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Der Burgt, Ineke" sort="Van Der Burgt, Ineke" uniqKey="Van Der Burgt I" first="Ineke" last="Van Der Burgt">Ineke Van Der Burgt</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ockeloen, Charlotte W" sort="Ockeloen, Charlotte W" uniqKey="Ockeloen C" first="Charlotte W." last="Ockeloen">Charlotte W. Ockeloen</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schuurs Hoeijmakers, Janneke H" sort="Schuurs Hoeijmakers, Janneke H" uniqKey="Schuurs Hoeijmakers J" first="Janneke H." last="Schuurs-Hoeijmakers">Janneke H. Schuurs-Hoeijmakers</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Klein Wassink Ruiter, Jolien S" sort="Klein Wassink Ruiter, Jolien S" uniqKey="Klein Wassink Ruiter J" first="Jolien S." last="Klein Wassink-Ruiter">Jolien S. Klein Wassink-Ruiter</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">Department of Genetics, University of Groningen and University Medical Center Groningen, 9700 RB Groningen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Genetics, University of Groningen and University Medical Center Groningen, 9700 RB Groningen</wicri:regionArea>
<wicri:noRegion>9700 RB Groningen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stumpel, Connie" sort="Stumpel, Connie" uniqKey="Stumpel C" first="Connie" last="Stumpel">Connie Stumpel</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht</wicri:regionArea>
<wicri:noRegion>6229 HX Maastricht</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stevens, Servi J C" sort="Stevens, Servi J C" uniqKey="Stevens S" first="Servi J. C." last="Stevens">Servi J. C. Stevens</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht</wicri:regionArea>
<wicri:noRegion>6229 HX Maastricht</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vles, Hans S" sort="Vles, Hans S" uniqKey="Vles H" first="Hans S." last="Vles">Hans S. Vles</name>
<affiliation wicri:level="1"><nlm:aff id="aff8">Department of Neurologie, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Neurologie, Maastricht University Medical Center+, 6229 HX Maastricht</wicri:regionArea>
<wicri:noRegion>6229 HX Maastricht</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Marcelis, Carlo M" sort="Marcelis, Carlo M" uniqKey="Marcelis C" first="Carlo M." last="Marcelis">Carlo M. Marcelis</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cantagrel, Vincent" sort="Cantagrel, Vincent" uniqKey="Cantagrel V" first="Vincent" last="Cantagrel">Vincent Cantagrel</name>
<affiliation wicri:level="1"><nlm:aff id="aff9">INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff10">Paris Descartes University – Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris Descartes University – Sorbonne Paris Cité, Imagine Institute, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Colleaux, Laurence" sort="Colleaux, Laurence" uniqKey="Colleaux L" first="Laurence" last="Colleaux">Laurence Colleaux</name>
<affiliation wicri:level="1"><nlm:aff id="aff9">INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff10">Paris Descartes University – Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris Descartes University – Sorbonne Paris Cité, Imagine Institute, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nicouleau, Michael" sort="Nicouleau, Michael" uniqKey="Nicouleau M" first="Michael" last="Nicouleau">Michael Nicouleau</name>
<affiliation wicri:level="1"><nlm:aff id="aff9">INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff10">Paris Descartes University – Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris Descartes University – Sorbonne Paris Cité, Imagine Institute, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name>
<affiliation wicri:level="1"><nlm:aff id="aff9">INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff10">Paris Descartes University – Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Paris Descartes University – Sorbonne Paris Cité, Imagine Institute, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff11">Departments of Genetics, Hôpital Necker – Enfants Malades, Assistance Publique – Hôpitaux de Paris, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Departments of Genetics, Hôpital Necker – Enfants Malades, Assistance Publique – Hôpitaux de Paris, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Bernier, Raphael A" sort="Bernier, Raphael A" uniqKey="Bernier R" first="Raphael A." last="Bernier">Raphael A. Bernier</name>
<affiliation wicri:level="4"><nlm:aff id="aff12">Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Gerdts, Jennifer" sort="Gerdts, Jennifer" uniqKey="Gerdts J" first="Jennifer" last="Gerdts">Jennifer Gerdts</name>
<affiliation wicri:level="4"><nlm:aff id="aff12">Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Coe, Bradley P" sort="Coe, Bradley P" uniqKey="Coe B" first="Bradley P." last="Coe">Bradley P. Coe</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Romano, Corrado" sort="Romano, Corrado" uniqKey="Romano C" first="Corrado" last="Romano">Corrado Romano</name>
<affiliation wicri:level="1"><nlm:aff id="aff13">Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina</wicri:regionArea>
<wicri:noRegion>94018 Troina</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Alberti, Antonino" sort="Alberti, Antonino" uniqKey="Alberti A" first="Antonino" last="Alberti">Antonino Alberti</name>
<affiliation wicri:level="1"><nlm:aff id="aff13">Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina</wicri:regionArea>
<wicri:noRegion>94018 Troina</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Grillo, Lucia" sort="Grillo, Lucia" uniqKey="Grillo L" first="Lucia" last="Grillo">Lucia Grillo</name>
<affiliation wicri:level="1"><nlm:aff id="aff14">Laboratory of Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Laboratory of Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina</wicri:regionArea>
<wicri:noRegion>94018 Troina</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Scuderi, Carmela" sort="Scuderi, Carmela" uniqKey="Scuderi C" first="Carmela" last="Scuderi">Carmela Scuderi</name>
<affiliation wicri:level="1"><nlm:aff id="aff15">Neuromuscular Diseases Unit, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Neuromuscular Diseases Unit, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina</wicri:regionArea>
<wicri:noRegion>94018 Troina</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nordenskjold, Magnus" sort="Nordenskjold, Magnus" uniqKey="Nordenskjold M" first="Magnus" last="Nordenskjöld">Magnus Nordenskjöld</name>
<affiliation wicri:level="1"><nlm:aff id="aff16">Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna</wicri:regionArea>
<wicri:noRegion>171 77 Solna</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kvarnung, Malin" sort="Kvarnung, Malin" uniqKey="Kvarnung M" first="Malin" last="Kvarnung">Malin Kvarnung</name>
<affiliation wicri:level="1"><nlm:aff id="aff16">Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna</wicri:regionArea>
<wicri:noRegion>171 77 Solna</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Guo, Hui" sort="Guo, Hui" uniqKey="Guo H" first="Hui" last="Guo">Hui Guo</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China</nlm:aff>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078</wicri:regionArea>
<wicri:noRegion>Hunan 410078</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Xia, Kun" sort="Xia, Kun" uniqKey="Xia K" first="Kun" last="Xia">Kun Xia</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China</nlm:aff>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078</wicri:regionArea>
<wicri:noRegion>Hunan 410078</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Piton, Amelie" sort="Piton, Amelie" uniqKey="Piton A" first="Amélie" last="Piton">Amélie Piton</name>
<affiliation wicri:level="1"><nlm:aff id="aff17">Department of Translational Medicine and Neurogenetics, Institut Génétique Biologie Moléculaire Cellulaire, 67400 Illkirch, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Translational Medicine and Neurogenetics, Institut Génétique Biologie Moléculaire Cellulaire, 67400 Illkirch</wicri:regionArea>
<wicri:noRegion>67400 Illkirch</wicri:noRegion>
<wicri:noRegion>67400 Illkirch</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff18">Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg</wicri:regionArea>
<wicri:noRegion>67000 Strasbourg</wicri:noRegion>
<placeName><settlement type="city">Strasbourg</settlement>
<region type="region" nuts="2">Grand Est</region>
<region type="old region" nuts="2">Alsace (région administrative)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gerard, Benedicte" sort="Gerard, Benedicte" uniqKey="Gerard B" first="Bénédicte" last="Gerard">Bénédicte Gerard</name>
<affiliation wicri:level="1"><nlm:aff id="aff18">Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg</wicri:regionArea>
<wicri:noRegion>67000 Strasbourg</wicri:noRegion>
<placeName><settlement type="city">Strasbourg</settlement>
<region type="region" nuts="2">Grand Est</region>
<region type="old region" nuts="2">Alsace (région administrative)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Genevieve">David Genevieve</name>
<affiliation wicri:level="1"><nlm:aff id="aff19">Département de Génétique Médicale, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hôpital Arnaud de Villeneuve, 34090 Montpellier, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique Médicale, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hôpital Arnaud de Villeneuve, 34090 Montpellier</wicri:regionArea>
<wicri:noRegion>34090 Montpellier</wicri:noRegion>
<placeName><settlement type="city">Montpellier</settlement>
<region type="region" nuts="2">Occitanie (région administrative)</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Delobel, Bruno" sort="Delobel, Bruno" uniqKey="Delobel B" first="Bruno" last="Delobel">Bruno Delobel</name>
<affiliation wicri:level="1"><nlm:aff id="aff20">Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul, Groupement des Hôpitaux de l’Institut Catholique de Lille, 59000 Lille, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul, Groupement des Hôpitaux de l’Institut Catholique de Lille, 59000 Lille</wicri:regionArea>
<wicri:noRegion>59000 Lille</wicri:noRegion>
<wicri:noRegion>59000 Lille</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lehalle, Daphne" sort="Lehalle, Daphne" uniqKey="Lehalle D" first="Daphne" last="Lehalle">Daphne Lehalle</name>
<affiliation wicri:level="1"><nlm:aff id="aff21">Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l’Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l’Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon</wicri:regionArea>
<wicri:noRegion>21079 Dijon</wicri:noRegion>
<wicri:noRegion>21079 Dijon</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Perrin, Laurence" sort="Perrin, Laurence" uniqKey="Perrin L" first="Laurence" last="Perrin">Laurence Perrin</name>
<affiliation wicri:level="1"><nlm:aff id="aff22">Service de Génétique Clinique, Hôpital Robert Debré, 75019 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Clinique, Hôpital Robert Debré, 75019 Paris</wicri:regionArea>
<wicri:noRegion>75019 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Prieur, Fabienne" sort="Prieur, Fabienne" uniqKey="Prieur F" first="Fabienne" last="Prieur">Fabienne Prieur</name>
<affiliation wicri:level="1"><nlm:aff id="aff23">Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de Saint-Étienne, 42100 Saint-Étienne, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de Saint-Étienne, 42100 Saint-Étienne</wicri:regionArea>
<wicri:noRegion>42100 Saint-Étienne</wicri:noRegion>
<wicri:noRegion>42100 Saint-Étienne</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Thevenon, Julien" sort="Thevenon, Julien" uniqKey="Thevenon J" first="Julien" last="Thevenon">Julien Thevenon</name>
<affiliation wicri:level="1"><nlm:aff id="aff21">Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l’Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l’Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon</wicri:regionArea>
<wicri:noRegion>21079 Dijon</wicri:noRegion>
<wicri:noRegion>21079 Dijon</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
<affiliation wicri:level="1"><nlm:aff id="aff24">Robinson Research Institute, University of Adelaide and Women’s and Children’s Hospital, North Adelaide SA 5006, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Robinson Research Institute, University of Adelaide and Women’s and Children’s Hospital, North Adelaide SA 5006</wicri:regionArea>
<wicri:noRegion>North Adelaide SA 5006</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Shaw, Marie" sort="Shaw, Marie" uniqKey="Shaw M" first="Marie" last="Shaw">Marie Shaw</name>
<affiliation wicri:level="1"><nlm:aff id="aff24">Robinson Research Institute, University of Adelaide and Women’s and Children’s Hospital, North Adelaide SA 5006, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Robinson Research Institute, University of Adelaide and Women’s and Children’s Hospital, North Adelaide SA 5006</wicri:regionArea>
<wicri:noRegion>North Adelaide SA 5006</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pfundt, Rolph" sort="Pfundt, Rolph" uniqKey="Pfundt R" first="Rolph" last="Pfundt">Rolph Pfundt</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Keren, Boris" sort="Keren, Boris" uniqKey="Keren B" first="Boris" last="Keren">Boris Keren</name>
<affiliation wicri:level="1"><nlm:aff id="aff25">Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique – Hôpitaux de Paris, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique – Hôpitaux de Paris, 75013 Paris</wicri:regionArea>
<wicri:noRegion>75013 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff26">INSERM UM75 and U1127, CNRS UMR7225, Université Pierre et Marie Curie (Paris 6) and Institut du Cerveau et de la Moelle épinière, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UM75 and U1127, CNRS UMR7225, Université Pierre et Marie Curie (Paris 6) and Institut du Cerveau et de la Moelle épinière, 75013 Paris</wicri:regionArea>
<wicri:noRegion>75013 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
</affiliation>
</author>
<author><name sortKey="Jacquette, Aurelia" sort="Jacquette, Aurelia" uniqKey="Jacquette A" first="Aurelia" last="Jacquette">Aurelia Jacquette</name>
<affiliation wicri:level="1"><nlm:aff id="aff25">Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique – Hôpitaux de Paris, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique – Hôpitaux de Paris, 75013 Paris</wicri:regionArea>
<wicri:noRegion>75013 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schenck, Annette" sort="Schenck, Annette" uniqKey="Schenck A" first="Annette" last="Schenck">Annette Schenck</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Eichler, Evan E" sort="Eichler, Evan E" uniqKey="Eichler E" first="Evan E." last="Eichler">Evan E. Eichler</name>
<affiliation wicri:level="4"><nlm:aff id="aff1">Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, WA 98105</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff27">Howard Hughes Medical Institute, Seattle, WA 98195, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Howard Hughes Medical Institute, Seattle, WA 98195</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea>
<wicri:noRegion>6500 HB Nijmegen</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2016">2016</date>
</imprint>
</series>
</biblStruct>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Animals</term>
<term>Autism Spectrum Disorder (diagnosis)</term>
<term>Autism Spectrum Disorder (genetics)</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Cohort Studies</term>
<term>Down-Regulation</term>
<term>Drosophila (genetics)</term>
<term>Drosophila Proteins (genetics)</term>
<term>Drosophila Proteins (metabolism)</term>
<term>Exome</term>
<term>Female</term>
<term>Gene Knockdown Techniques</term>
<term>Genome-Wide Association Study</term>
<term>Humans</term>
<term>Infant</term>
<term>Intellectual Disability (diagnosis)</term>
<term>Intellectual Disability (genetics)</term>
<term>Language Development Disorders (diagnosis)</term>
<term>Language Development Disorders (genetics)</term>
<term>Linear Models</term>
<term>Male</term>
<term>Microcephaly (diagnosis)</term>
<term>Microcephaly (genetics)</term>
<term>Mutation</term>
<term>Phenotype</term>
<term>Transcription Factors (genetics)</term>
<term>Transcription Factors (metabolism)</term>
<term>Transposases (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Animaux</term>
<term>Drosophila (génétique)</term>
<term>Déficience intellectuelle (diagnostic)</term>
<term>Déficience intellectuelle (génétique)</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Exome</term>
<term>Facteurs de transcription (génétique)</term>
<term>Facteurs de transcription (métabolisme)</term>
<term>Femelle</term>
<term>Humains</term>
<term>Microcéphalie (diagnostic)</term>
<term>Microcéphalie (génétique)</term>
<term>Modèles linéaires</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Phénotype</term>
<term>Protéines de Drosophila (génétique)</term>
<term>Protéines de Drosophila (métabolisme)</term>
<term>Régulation négative</term>
<term>Techniques de knock-down de gènes</term>
<term>Transposases (génétique)</term>
<term>Trouble du spectre autistique (diagnostic)</term>
<term>Trouble du spectre autistique (génétique)</term>
<term>Troubles du développement du langage (diagnostic)</term>
<term>Troubles du développement du langage (génétique)</term>
<term>Étude d'association pangénomique</term>
<term>Études de cohortes</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Drosophila Proteins</term>
<term>Transcription Factors</term>
<term>Transposases</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Autism Spectrum Disorder</term>
<term>Intellectual Disability</term>
<term>Language Development Disorders</term>
<term>Microcephaly</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Déficience intellectuelle</term>
<term>Microcéphalie</term>
<term>Trouble du spectre autistique</term>
<term>Troubles du développement du langage</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Autism Spectrum Disorder</term>
<term>Drosophila</term>
<term>Intellectual Disability</term>
<term>Language Development Disorders</term>
<term>Microcephaly</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Drosophila</term>
<term>Déficience intellectuelle</term>
<term>Facteurs de transcription</term>
<term>Microcéphalie</term>
<term>Protéines de Drosophila</term>
<term>Transposases</term>
<term>Trouble du spectre autistique</term>
<term>Troubles du développement du langage</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Drosophila Proteins</term>
<term>Transcription Factors</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Facteurs de transcription</term>
<term>Protéines de Drosophila</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Animals</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Cohort Studies</term>
<term>Down-Regulation</term>
<term>Exome</term>
<term>Female</term>
<term>Gene Knockdown Techniques</term>
<term>Genome-Wide Association Study</term>
<term>Humans</term>
<term>Infant</term>
<term>Linear Models</term>
<term>Male</term>
<term>Mutation</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Animaux</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Exome</term>
<term>Femelle</term>
<term>Humains</term>
<term>Modèles linéaires</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Phénotype</term>
<term>Régulation négative</term>
<term>Techniques de knock-down de gènes</term>
<term>Étude d'association pangénomique</term>
<term>Études de cohortes</term>
</keywords>
</textClass>
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<front><div type="abstract" xml:lang="en"><p>Intellectual disability (ID) and autism spectrum disorders (ASD) are genetically heterogeneous, and a significant number of genes have been associated with both conditions. A few mutations in <italic>POGZ</italic>
 have been reported in recent exome studies; however, these studies do not provide detailed clinical information. We collected the clinical and molecular data of 25 individuals with disruptive mutations in <italic>POGZ</italic>
 by diagnostic whole-exome, whole-genome, or targeted sequencing of 5,223 individuals with neurodevelopmental disorders (ID primarily) or by targeted resequencing of this locus in 12,041 individuals with ASD and/or ID. The rarity of disruptive mutations among unaffected individuals (2/49,401) highlights the significance (p = 4.19 × 10<sup>−13</sup>
; odds ratio = 35.8) and penetrance (65.9%) of this genetic subtype with respect to ASD and ID. By studying the entire cohort, we defined common phenotypic features of <italic>POGZ</italic>
 individuals, including variable levels of developmental delay (DD) and more severe speech and language delay in comparison to the severity of motor delay and coordination issues. We also identified significant associations with vision problems, microcephaly, hyperactivity, a tendency to obesity, and feeding difficulties. Some features might be explained by the high expression of <italic>POGZ</italic>
, particularly in the cerebellum and pituitary, early in fetal brain development. We conducted parallel studies in <italic>Drosophila</italic>
 by inducing conditional knockdown of the <italic>POGZ</italic>
 ortholog <italic>row,</italic>
 further confirming that dosage of <italic>POGZ</italic>
, specifically in neurons, is essential for normal learning in a habituation paradigm. Combined, the data underscore the pathogenicity of loss-of-function mutations in <italic>POGZ</italic>
 and define a <italic>POGZ</italic>
-related phenotype enriched in specific features.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>Danemark</li>
<li>France</li>
<li>Italie</li>
<li>Pays-Bas</li>
<li>République populaire de Chine</li>
<li>Suède</li>
<li>États-Unis</li>
</country>
<region><li>Alsace (région administrative)</li>
<li>Grand Est</li>
<li>Languedoc-Roussillon</li>
<li>Occitanie (région administrative)</li>
<li>Washington (État)</li>
<li>Île-de-France</li>
</region>
<settlement><li>Montpellier</li>
<li>Paris</li>
<li>Seattle</li>
<li>Strasbourg</li>
</settlement>
<orgName><li>Université Pierre-et-Marie-Curie</li>
<li>Université de Washington</li>
</orgName>
</list>
<tree><country name="États-Unis"><region name="Washington (État)"><name sortKey="Stessman, Holly A F" sort="Stessman, Holly A F" uniqKey="Stessman H" first="Holly A. F." last="Stessman">Holly A. F. Stessman</name>
</region>
<name sortKey="Bernier, Raphael A" sort="Bernier, Raphael A" uniqKey="Bernier R" first="Raphael A." last="Bernier">Raphael A. Bernier</name>
<name sortKey="Coe, Bradley P" sort="Coe, Bradley P" uniqKey="Coe B" first="Bradley P." last="Coe">Bradley P. Coe</name>
<name sortKey="Eichler, Evan E" sort="Eichler, Evan E" uniqKey="Eichler E" first="Evan E." last="Eichler">Evan E. Eichler</name>
<name sortKey="Eichler, Evan E" sort="Eichler, Evan E" uniqKey="Eichler E" first="Evan E." last="Eichler">Evan E. Eichler</name>
<name sortKey="Gerdts, Jennifer" sort="Gerdts, Jennifer" uniqKey="Gerdts J" first="Jennifer" last="Gerdts">Jennifer Gerdts</name>
<name sortKey="Hoekzema, Kendra" sort="Hoekzema, Kendra" uniqKey="Hoekzema K" first="Kendra" last="Hoekzema">Kendra Hoekzema</name>
<name sortKey="Penn, Osnat" sort="Penn, Osnat" uniqKey="Penn O" first="Osnat" last="Penn">Osnat Penn</name>
<name sortKey="Vives, Laura" sort="Vives, Laura" uniqKey="Vives L" first="Laura" last="Vives">Laura Vives</name>
<name sortKey="Xiong, Bo" sort="Xiong, Bo" uniqKey="Xiong B" first="Bo" last="Xiong">Bo Xiong</name>
</country>
<country name="Pays-Bas"><noRegion><name sortKey="Willemsen, Marjolein H" sort="Willemsen, Marjolein H" uniqKey="Willemsen M" first="Marjolein H." last="Willemsen">Marjolein H. Willemsen</name>
</noRegion>
<name sortKey="Brunner, Han G" sort="Brunner, Han G" uniqKey="Brunner H" first="Han G." last="Brunner">Han G. Brunner</name>
<name sortKey="Brunner, Han G" sort="Brunner, Han G" uniqKey="Brunner H" first="Han G." last="Brunner">Han G. Brunner</name>
<name sortKey="Brunner, Han G" sort="Brunner, Han G" uniqKey="Brunner H" first="Han G." last="Brunner">Han G. Brunner</name>
<name sortKey="Fenckova, Michaela" sort="Fenckova, Michaela" uniqKey="Fenckova M" first="Michaela" last="Fenckova">Michaela Fenckova</name>
<name sortKey="Fenckova, Michaela" sort="Fenckova, Michaela" uniqKey="Fenckova M" first="Michaela" last="Fenckova">Michaela Fenckova</name>
<name sortKey="Hoischen, Alexander" sort="Hoischen, Alexander" uniqKey="Hoischen A" first="Alexander" last="Hoischen">Alexander Hoischen</name>
<name sortKey="Hoischen, Alexander" sort="Hoischen, Alexander" uniqKey="Hoischen A" first="Alexander" last="Hoischen">Alexander Hoischen</name>
<name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name>
<name sortKey="Kleefstra, Tjitske" sort="Kleefstra, Tjitske" uniqKey="Kleefstra T" first="Tjitske" last="Kleefstra">Tjitske Kleefstra</name>
<name sortKey="Klein Wassink Ruiter, Jolien S" sort="Klein Wassink Ruiter, Jolien S" uniqKey="Klein Wassink Ruiter J" first="Jolien S." last="Klein Wassink-Ruiter">Jolien S. Klein Wassink-Ruiter</name>
<name sortKey="Marcelis, Carlo M" sort="Marcelis, Carlo M" uniqKey="Marcelis C" first="Carlo M." last="Marcelis">Carlo M. Marcelis</name>
<name sortKey="Ockeloen, Charlotte W" sort="Ockeloen, Charlotte W" uniqKey="Ockeloen C" first="Charlotte W." last="Ockeloen">Charlotte W. Ockeloen</name>
<name sortKey="Pfundt, Rolph" sort="Pfundt, Rolph" uniqKey="Pfundt R" first="Rolph" last="Pfundt">Rolph Pfundt</name>
<name sortKey="Schenck, Annette" sort="Schenck, Annette" uniqKey="Schenck A" first="Annette" last="Schenck">Annette Schenck</name>
<name sortKey="Schenck, Annette" sort="Schenck, Annette" uniqKey="Schenck A" first="Annette" last="Schenck">Annette Schenck</name>
<name sortKey="Schuurs Hoeijmakers, Janneke H" sort="Schuurs Hoeijmakers, Janneke H" uniqKey="Schuurs Hoeijmakers J" first="Janneke H." last="Schuurs-Hoeijmakers">Janneke H. Schuurs-Hoeijmakers</name>
<name sortKey="Stevens, Servi J C" sort="Stevens, Servi J C" uniqKey="Stevens S" first="Servi J. C." last="Stevens">Servi J. C. Stevens</name>
<name sortKey="Stumpel, Connie" sort="Stumpel, Connie" uniqKey="Stumpel C" first="Connie" last="Stumpel">Connie Stumpel</name>
<name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name>
<name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name>
<name sortKey="Van Der Burgt, Ineke" sort="Van Der Burgt, Ineke" uniqKey="Van Der Burgt I" first="Ineke" last="Van Der Burgt">Ineke Van Der Burgt</name>
<name sortKey="Vles, Hans S" sort="Vles, Hans S" uniqKey="Vles H" first="Hans S." last="Vles">Hans S. Vles</name>
<name sortKey="Willemsen, Marjolein H" sort="Willemsen, Marjolein H" uniqKey="Willemsen M" first="Marjolein H." last="Willemsen">Marjolein H. Willemsen</name>
</country>
<country name="République populaire de Chine"><noRegion><name sortKey="Wang, Tianyun" sort="Wang, Tianyun" uniqKey="Wang T" first="Tianyun" last="Wang">Tianyun Wang</name>
</noRegion>
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<name sortKey="Xia, Kun" sort="Xia, Kun" uniqKey="Xia K" first="Kun" last="Xia">Kun Xia</name>
</country>
<country name="Danemark"><noRegion><name sortKey="Vogel, Ida" sort="Vogel, Ida" uniqKey="Vogel I" first="Ida" last="Vogel">Ida Vogel</name>
</noRegion>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Cantagrel, Vincent" sort="Cantagrel, Vincent" uniqKey="Cantagrel V" first="Vincent" last="Cantagrel">Vincent Cantagrel</name>
</region>
<name sortKey="Cantagrel, Vincent" sort="Cantagrel, Vincent" uniqKey="Cantagrel V" first="Vincent" last="Cantagrel">Vincent Cantagrel</name>
<name sortKey="Colleaux, Laurence" sort="Colleaux, Laurence" uniqKey="Colleaux L" first="Laurence" last="Colleaux">Laurence Colleaux</name>
<name sortKey="Colleaux, Laurence" sort="Colleaux, Laurence" uniqKey="Colleaux L" first="Laurence" last="Colleaux">Laurence Colleaux</name>
<name sortKey="Delobel, Bruno" sort="Delobel, Bruno" uniqKey="Delobel B" first="Bruno" last="Delobel">Bruno Delobel</name>
<name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Genevieve">David Genevieve</name>
<name sortKey="Gerard, Benedicte" sort="Gerard, Benedicte" uniqKey="Gerard B" first="Bénédicte" last="Gerard">Bénédicte Gerard</name>
<name sortKey="Jacquette, Aurelia" sort="Jacquette, Aurelia" uniqKey="Jacquette A" first="Aurelia" last="Jacquette">Aurelia Jacquette</name>
<name sortKey="Keren, Boris" sort="Keren, Boris" uniqKey="Keren B" first="Boris" last="Keren">Boris Keren</name>
<name sortKey="Keren, Boris" sort="Keren, Boris" uniqKey="Keren B" first="Boris" last="Keren">Boris Keren</name>
<name sortKey="Lehalle, Daphne" sort="Lehalle, Daphne" uniqKey="Lehalle D" first="Daphne" last="Lehalle">Daphne Lehalle</name>
<name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name>
<name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name>
<name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name>
<name sortKey="Nicouleau, Michael" sort="Nicouleau, Michael" uniqKey="Nicouleau M" first="Michael" last="Nicouleau">Michael Nicouleau</name>
<name sortKey="Nicouleau, Michael" sort="Nicouleau, Michael" uniqKey="Nicouleau M" first="Michael" last="Nicouleau">Michael Nicouleau</name>
<name sortKey="Perrin, Laurence" sort="Perrin, Laurence" uniqKey="Perrin L" first="Laurence" last="Perrin">Laurence Perrin</name>
<name sortKey="Piton, Amelie" sort="Piton, Amelie" uniqKey="Piton A" first="Amélie" last="Piton">Amélie Piton</name>
<name sortKey="Piton, Amelie" sort="Piton, Amelie" uniqKey="Piton A" first="Amélie" last="Piton">Amélie Piton</name>
<name sortKey="Prieur, Fabienne" sort="Prieur, Fabienne" uniqKey="Prieur F" first="Fabienne" last="Prieur">Fabienne Prieur</name>
<name sortKey="Thevenon, Julien" sort="Thevenon, Julien" uniqKey="Thevenon J" first="Julien" last="Thevenon">Julien Thevenon</name>
</country>
<country name="Italie"><noRegion><name sortKey="Romano, Corrado" sort="Romano, Corrado" uniqKey="Romano C" first="Corrado" last="Romano">Corrado Romano</name>
</noRegion>
<name sortKey="Alberti, Antonino" sort="Alberti, Antonino" uniqKey="Alberti A" first="Antonino" last="Alberti">Antonino Alberti</name>
<name sortKey="Grillo, Lucia" sort="Grillo, Lucia" uniqKey="Grillo L" first="Lucia" last="Grillo">Lucia Grillo</name>
<name sortKey="Scuderi, Carmela" sort="Scuderi, Carmela" uniqKey="Scuderi C" first="Carmela" last="Scuderi">Carmela Scuderi</name>
</country>
<country name="Suède"><noRegion><name sortKey="Nordenskjold, Magnus" sort="Nordenskjold, Magnus" uniqKey="Nordenskjold M" first="Magnus" last="Nordenskjöld">Magnus Nordenskjöld</name>
</noRegion>
<name sortKey="Kvarnung, Malin" sort="Kvarnung, Malin" uniqKey="Kvarnung M" first="Malin" last="Kvarnung">Malin Kvarnung</name>
</country>
<country name="Australie"><noRegion><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
</noRegion>
<name sortKey="Shaw, Marie" sort="Shaw, Marie" uniqKey="Shaw M" first="Marie" last="Shaw">Marie Shaw</name>
</country>
</tree>
</affiliations>
</record>

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Serveur d'exploration sur les relations entre la France et l'Australie

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

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