X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Identifieur interne : 001377 ( PubMed/Checkpoint ); précédent : 001376; suivant : 001378X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Auteurs : H. Hu [Allemagne] ; S A Haas [Allemagne] ; J. Chelly [France] ; H. Van Esch [Belgique] ; M. Raynaud [France] ; A P M. De Brouwer [Pays-Bas] ; S. Weinert [Allemagne] ; G. Froyen [Belgique] ; S G M. Frints [Pays-Bas] ; F. Laumonnier [France] ; T. Zemojtel [Allemagne] ; M I Love [Allemagne] ; H. Richard [Allemagne] ; A-K Emde [Allemagne] ; M. Bienek [Allemagne] ; C. Jensen [Allemagne] ; M. Hambrock [Allemagne] ; U. Fischer [Allemagne] ; C. Langnick [Allemagne] ; M. Feldkamp [Allemagne] ; W. Wissink-Lindhout [Pays-Bas] ; N. Lebrun [France] ; L. Castelnau [France] ; J. Rucci [France] ; R. Montjean [France] ; O. Dorseuil [France] ; P. Billuart [France] ; T. Stuhlmann [Allemagne] ; M. Shaw [Australie] ; M A Corbett [Australie] ; A. Gardner [Australie] ; S. Willis-Owen [Australie] ; C. Tan [Australie] ; K L Friend [Australie] ; S. Belet [Belgique] ; K E P. Van Roozendaal [Pays-Bas] ; M. Jimenez-Pocquet [France] ; M-P Moizard [France] ; N. Ronce [France] ; R. Sun [Allemagne] ; S. O'Keeffe [Allemagne] ; R. Chenna [Allemagne] ; A. Van Bömmel [Allemagne] ; J. Göke [Allemagne] ; A. Hackett [Australie] ; M. Field [Australie] ; L. Christie [Australie] ; J. Boyle [Australie] ; E. Haan [Australie] ; J. Nelson [Australie] ; G. Turner [Australie] ; G. Baynam [Australie] ; G. Gillessen-Kaesbach [Allemagne] ; U. Müller [Allemagne] ; D. Steinberger [Allemagne] ; B. Budny [Pologne] ; M. Badura-Stronka [Pologne] ; A. Latos-Biele Ska [Pologne] ; L B Ousager [Danemark] ; P. Wieacker [Allemagne] ; G. Rodríguez Criado [Espagne] ; M-L Bondeson [Suède] ; G. Annerén [Suède] ; A. Dufke [Allemagne] ; M. Cohen [Allemagne] ; L. Van Maldergem [France] ; C. Vincent-Delorme [France] ; B. Echenne [France] ; B. Simon-Bouy [France] ; T. Kleefstra [Pays-Bas] ; M. Willemsen [Pays-Bas] ; J-P Fryns [Belgique] ; K. Devriendt [Belgique] ; R. Ullmann [Allemagne] ; M. Vingron [Allemagne] ; K. Wrogemann [Allemagne] ; T F Wienker [Allemagne] ; A. Tzschach [Allemagne] ; H. Van Bokhoven [Pays-Bas] ; J. Gecz [Australie] ; T J Jentsch [Allemagne] ; W. Chen [Allemagne] ; H-H Ropers [Allemagne] ; V M Kalscheuer [Allemagne]Source :
- Molecular psychiatry [ 1476-5578 ] ; 2016.
Descripteurs français
- KwdFr :
- ARN messager (métabolisme), Adolescent, Adulte, Animaux, Canaux chlorure (génétique), Canaux chlorure (métabolisme), Cellules cultivées, Facteur de transcription TFIID (génétique), Facteurs associés à la protéine de liaison à la boite TATA (génétique), Histone acetyltransferases (génétique), Humains, Kinases cyclines-dépendantes (génétique), Mâle, Neurones (anatomopathologie), Neurones (métabolisme), Protéines adaptatrices de la transduction du signal (génétique), Protéines des microfilaments (génétique), Protéines et peptides de signalisation intracellulaire (génétique), Protéines nucléaires (génétique), Retard mental lié à l'X (génétique), Souris knockout, Séquençage nucléotidique à haut débit, Ubiquitin-protein ligases (génétique), Variation génétique, Études de cohortes.
- MESH :
- anatomopathologie : Neurones.
- génétique : Canaux chlorure, Facteur de transcription TFIID, Facteurs associés à la protéine de liaison à la boite TATA, Histone acetyltransferases, Kinases cyclines-dépendantes, Protéines adaptatrices de la transduction du signal, Protéines des microfilaments, Protéines et peptides de signalisation intracellulaire, Protéines nucléaires, Retard mental lié à l'X, Ubiquitin-protein ligases.
- métabolisme : ARN messager, Canaux chlorure, Neurones.
- Adolescent, Adulte, Animaux, Cellules cultivées, Humains, Mâle, Souris knockout, Séquençage nucléotidique à haut débit, Variation génétique, Études de cohortes.
English descriptors
- KwdEn :
- Adaptor Proteins, Signal Transducing (genetics), Adolescent, Adult, Animals, Cells, Cultured, Chloride Channels (genetics), Chloride Channels (metabolism), Cohort Studies, Cyclin-Dependent Kinases (genetics), Genetic Variation, High-Throughput Nucleotide Sequencing, Histone Acetyltransferases (genetics), Humans, Intracellular Signaling Peptides and Proteins (genetics), Male, Mental Retardation, X-Linked (genetics), Mice, Knockout, Microfilament Proteins (genetics), Neurons (metabolism), Neurons (pathology), Nuclear Proteins (genetics), RNA, Messenger (metabolism), TATA-Binding Protein Associated Factors (genetics), Transcription Factor TFIID (genetics), Ubiquitin-Protein Ligases (genetics).
- MESH :
- chemical , genetics : Adaptor Proteins, Signal Transducing, Chloride Channels, Cyclin-Dependent Kinases, Histone Acetyltransferases, Intracellular Signaling Peptides and Proteins, Microfilament Proteins, Nuclear Proteins, TATA-Binding Protein Associated Factors, Transcription Factor TFIID, Ubiquitin-Protein Ligases.
- chemical , metabolism : Chloride Channels, RNA, Messenger.
- genetics : Mental Retardation, X-Linked.
- metabolism : Neurons.
- pathology : Neurons.
- Adolescent, Adult, Animals, Cells, Cultured, Cohort Studies, Genetic Variation, High-Throughput Nucleotide Sequencing, Humans, Male, Mice, Knockout.
Abstract
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. After stringent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization. Co-segregation analysis of potential clinically relevant changes revealed that 80 families (20%) carried pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4(-/-) mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual disability in particular. We suggest that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X-chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.
DOI: 10.1038/mp.2014.193
PubMed: 25644381
Affiliations:
- Allemagne, Australie, Belgique, Danemark, Espagne, France, Pays-Bas, Pologne, Suède
- Bade-Wurtemberg, Bavière, Berlin, Bourgogne-Franche-Comté, Centre-Val de Loire, District de Haute-Bavière, District de Tübingen, East Middle Sweden, Franche-Comté, Gueldre, Hauts-de-France, Languedoc-Roussillon, Nord-Pas-de-Calais, Occitanie (région administrative), Région Centre, Svealand, Île-de-France
- Berlin, Besançon, Lille, Montpellier, Munich, Nimègue, Paris, Tours, Tübingen, Uppsala
- Université d'Uppsala, Université de Franche-Comté
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pubmed:25644381Le document en format XML
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<author><name sortKey="Froyen, G" sort="Froyen, G" uniqKey="Froyen G" first="G" last="Froyen">G. Froyen</name>
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<author><name sortKey="Frints, S G M" sort="Frints, S G M" uniqKey="Frints S" first="S G M" last="Frints">S G M. Frints</name>
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<author><name sortKey="Love, M I" sort="Love, M I" uniqKey="Love M" first="M I" last="Love">M I Love</name>
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<author><name sortKey="Richard, H" sort="Richard, H" uniqKey="Richard H" first="H" last="Richard">H. Richard</name>
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<author><name sortKey="Emde, A K" sort="Emde, A K" uniqKey="Emde A" first="A-K" last="Emde">A-K Emde</name>
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<author><name sortKey="Bienek, M" sort="Bienek, M" uniqKey="Bienek M" first="M" last="Bienek">M. Bienek</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
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<author><name sortKey="Jensen, C" sort="Jensen, C" uniqKey="Jensen C" first="C" last="Jensen">C. Jensen</name>
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<country xml:lang="fr">Allemagne</country>
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<author><name sortKey="Hambrock, M" sort="Hambrock, M" uniqKey="Hambrock M" first="M" last="Hambrock">M. Hambrock</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
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<author><name sortKey="Fischer, U" sort="Fischer, U" uniqKey="Fischer U" first="U" last="Fischer">U. Fischer</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
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<author><name sortKey="Langnick, C" sort="Langnick, C" uniqKey="Langnick C" first="C" last="Langnick">C. Langnick</name>
<affiliation wicri:level="3"><nlm:affiliation>Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
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<author><name sortKey="Feldkamp, M" sort="Feldkamp, M" uniqKey="Feldkamp M" first="M" last="Feldkamp">M. Feldkamp</name>
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<country xml:lang="fr">Allemagne</country>
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<author><name sortKey="Wissink Lindhout, W" sort="Wissink Lindhout, W" uniqKey="Wissink Lindhout W" first="W" last="Wissink-Lindhout">W. Wissink-Lindhout</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen</wicri:regionArea>
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<region type="province" nuts="2">Gueldre</region>
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<author><name sortKey="Lebrun, N" sort="Lebrun, N" uniqKey="Lebrun N" first="N" last="Lebrun">N. Lebrun</name>
<affiliation wicri:level="3"><nlm:affiliation>University Paris Descartes, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>University Paris Descartes, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
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</author>
<author><name sortKey="Castelnau, L" sort="Castelnau, L" uniqKey="Castelnau L" first="L" last="Castelnau">L. Castelnau</name>
<affiliation wicri:level="3"><nlm:affiliation>University Paris Descartes, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>University Paris Descartes, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rucci, J" sort="Rucci, J" uniqKey="Rucci J" first="J" last="Rucci">J. Rucci</name>
<affiliation wicri:level="3"><nlm:affiliation>University Paris Descartes, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>University Paris Descartes, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Montjean, R" sort="Montjean, R" uniqKey="Montjean R" first="R" last="Montjean">R. Montjean</name>
<affiliation wicri:level="3"><nlm:affiliation>University Paris Descartes, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>University Paris Descartes, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Dorseuil, O" sort="Dorseuil, O" uniqKey="Dorseuil O" first="O" last="Dorseuil">O. Dorseuil</name>
<affiliation wicri:level="3"><nlm:affiliation>University Paris Descartes, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>University Paris Descartes, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Billuart, P" sort="Billuart, P" uniqKey="Billuart P" first="P" last="Billuart">P. Billuart</name>
<affiliation wicri:level="3"><nlm:affiliation>University Paris Descartes, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>University Paris Descartes, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Stuhlmann, T" sort="Stuhlmann, T" uniqKey="Stuhlmann T" first="T" last="Stuhlmann">T. Stuhlmann</name>
<affiliation wicri:level="3"><nlm:affiliation>Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max-Delbrück-Centrum für Molekulare Medizin, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Shaw, M" sort="Shaw, M" uniqKey="Shaw M" first="M" last="Shaw">M. Shaw</name>
<affiliation wicri:level="1"><nlm:affiliation>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Corbett, M A" sort="Corbett, M A" uniqKey="Corbett M" first="M A" last="Corbett">M A Corbett</name>
<affiliation wicri:level="1"><nlm:affiliation>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gardner, A" sort="Gardner, A" uniqKey="Gardner A" first="A" last="Gardner">A. Gardner</name>
<affiliation wicri:level="1"><nlm:affiliation>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Willis Owen, S" sort="Willis Owen, S" uniqKey="Willis Owen S" first="S" last="Willis-Owen">S. Willis-Owen</name>
<affiliation wicri:level="1"><nlm:affiliation>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tan, C" sort="Tan, C" uniqKey="Tan C" first="C" last="Tan">C. Tan</name>
<affiliation wicri:level="1"><nlm:affiliation>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Friend, K L" sort="Friend, K L" uniqKey="Friend K" first="K L" last="Friend">K L Friend</name>
<affiliation wicri:level="1"><nlm:affiliation>SA Pathology, Women's and Children's Hospital, Adelaide, SA, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>SA Pathology, Women's and Children's Hospital, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Belet, S" sort="Belet, S" uniqKey="Belet S" first="S" last="Belet">S. Belet</name>
<affiliation wicri:level="1"><nlm:affiliation>Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven</wicri:regionArea>
<wicri:noRegion>Leuven</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Roozendaal, K E P" sort="Van Roozendaal, K E P" uniqKey="Van Roozendaal K" first="K E P" last="Van Roozendaal">K E P. Van Roozendaal</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Maastricht University Medical Center, azM, Maastricht, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Center, azM, Maastricht</wicri:regionArea>
<wicri:noRegion>Maastricht</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Jimenez Pocquet, M" sort="Jimenez Pocquet, M" uniqKey="Jimenez Pocquet M" first="M" last="Jimenez-Pocquet">M. Jimenez-Pocquet</name>
<affiliation wicri:level="3"><nlm:affiliation>Centre Hospitalier Régional Universitaire, Service de Génétique, Tours, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre Hospitalier Régional Universitaire, Service de Génétique, Tours</wicri:regionArea>
<placeName><region type="region">Centre-Val de Loire</region>
<region type="old region">Région Centre</region>
<settlement type="city">Tours</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Moizard, M P" sort="Moizard, M P" uniqKey="Moizard M" first="M-P" last="Moizard">M-P Moizard</name>
<affiliation wicri:level="3"><nlm:affiliation>Inserm U930 'Imaging and Brain', Tours, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U930 'Imaging and Brain', Tours</wicri:regionArea>
<placeName><region type="region">Centre-Val de Loire</region>
<region type="old region">Région Centre</region>
<settlement type="city">Tours</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ronce, N" sort="Ronce, N" uniqKey="Ronce N" first="N" last="Ronce">N. Ronce</name>
<affiliation wicri:level="3"><nlm:affiliation>Inserm U930 'Imaging and Brain', Tours, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U930 'Imaging and Brain', Tours</wicri:regionArea>
<placeName><region type="region">Centre-Val de Loire</region>
<region type="old region">Région Centre</region>
<settlement type="city">Tours</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sun, R" sort="Sun, R" uniqKey="Sun R" first="R" last="Sun">R. Sun</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="O Keeffe, S" sort="O Keeffe, S" uniqKey="O Keeffe S" first="S" last="O'Keeffe">S. O'Keeffe</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chenna, R" sort="Chenna, R" uniqKey="Chenna R" first="R" last="Chenna">R. Chenna</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Bommel, A" sort="Van Bommel, A" uniqKey="Van Bommel A" first="A" last="Van Bömmel">A. Van Bömmel</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Goke, J" sort="Goke, J" uniqKey="Goke J" first="J" last="Göke">J. Göke</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hackett, A" sort="Hackett, A" uniqKey="Hackett A" first="A" last="Hackett">A. Hackett</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW</wicri:regionArea>
<wicri:noRegion>NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Field, M" sort="Field, M" uniqKey="Field M" first="M" last="Field">M. Field</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW</wicri:regionArea>
<wicri:noRegion>NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Christie, L" sort="Christie, L" uniqKey="Christie L" first="L" last="Christie">L. Christie</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW</wicri:regionArea>
<wicri:noRegion>NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Boyle, J" sort="Boyle, J" uniqKey="Boyle J" first="J" last="Boyle">J. Boyle</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW</wicri:regionArea>
<wicri:noRegion>NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Haan, E" sort="Haan, E" uniqKey="Haan E" first="E" last="Haan">E. Haan</name>
<affiliation wicri:level="1"><nlm:affiliation>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nelson, J" sort="Nelson, J" uniqKey="Nelson J" first="J" last="Nelson">J. Nelson</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA</wicri:regionArea>
<wicri:noRegion>WA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Turner, G" sort="Turner, G" uniqKey="Turner G" first="G" last="Turner">G. Turner</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW</wicri:regionArea>
<wicri:noRegion>NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Baynam, G" sort="Baynam, G" uniqKey="Baynam G" first="G" last="Baynam">G. Baynam</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA</wicri:regionArea>
<wicri:noRegion>WA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gillessen Kaesbach, G" sort="Gillessen Kaesbach, G" uniqKey="Gillessen Kaesbach G" first="G" last="Gillessen-Kaesbach">G. Gillessen-Kaesbach</name>
<affiliation wicri:level="1"><nlm:affiliation>Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universität zu Lübeck, Lübeck</wicri:regionArea>
<wicri:noRegion>Lübeck</wicri:noRegion>
<wicri:noRegion>Lübeck</wicri:noRegion>
<wicri:noRegion>Lübeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Muller, U" sort="Muller, U" uniqKey="Muller U" first="U" last="Müller">U. Müller</name>
<affiliation wicri:level="1"><nlm:affiliation>Institut für Humangenetik, Justus-Liebig-Universität Giessen, Giessen, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Justus-Liebig-Universität Giessen, Giessen</wicri:regionArea>
<wicri:noRegion>Giessen</wicri:noRegion>
<wicri:noRegion>Giessen</wicri:noRegion>
<wicri:noRegion>Giessen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Steinberger, D" sort="Steinberger, D" uniqKey="Steinberger D" first="D" last="Steinberger">D. Steinberger</name>
<affiliation wicri:level="1"><nlm:affiliation>Institut für Humangenetik, Justus-Liebig-Universität Giessen, Giessen, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Justus-Liebig-Universität Giessen, Giessen</wicri:regionArea>
<wicri:noRegion>Giessen</wicri:noRegion>
<wicri:noRegion>Giessen</wicri:noRegion>
<wicri:noRegion>Giessen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Budny, B" sort="Budny, B" uniqKey="Budny B" first="B" last="Budny">B. Budny</name>
<affiliation wicri:level="1"><nlm:affiliation>Chair and Department of Endocrinology, Metabolism and Internal Diseases, Ponzan University of Medical Sciences, Poznan, Poland.</nlm:affiliation>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Chair and Department of Endocrinology, Metabolism and Internal Diseases, Ponzan University of Medical Sciences, Poznan</wicri:regionArea>
<wicri:noRegion>Poznan</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Badura Stronka, M" sort="Badura Stronka, M" uniqKey="Badura Stronka M" first="M" last="Badura-Stronka">M. Badura-Stronka</name>
<affiliation wicri:level="1"><nlm:affiliation>Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.</nlm:affiliation>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan</wicri:regionArea>
<wicri:noRegion>Poznan</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Latos Biele Ska, A" sort="Latos Biele Ska, A" uniqKey="Latos Biele Ska A" first="A" last="Latos-Biele Ska">A. Latos-Biele Ska</name>
<affiliation wicri:level="1"><nlm:affiliation>Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.</nlm:affiliation>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan</wicri:regionArea>
<wicri:noRegion>Poznan</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ousager, L B" sort="Ousager, L B" uniqKey="Ousager L" first="L B" last="Ousager">L B Ousager</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.</nlm:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Genetics, Odense University Hospital, Odense</wicri:regionArea>
<wicri:noRegion>Odense</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wieacker, P" sort="Wieacker, P" uniqKey="Wieacker P" first="P" last="Wieacker">P. Wieacker</name>
<affiliation wicri:level="1"><nlm:affiliation>Institut für Humangenetik, Universitätsklinikum Münster, Muenster, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universitätsklinikum Münster, Muenster</wicri:regionArea>
<wicri:noRegion>Muenster</wicri:noRegion>
<wicri:noRegion>Muenster</wicri:noRegion>
<wicri:noRegion>Muenster</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rodriguez Criado, G" sort="Rodriguez Criado, G" uniqKey="Rodriguez Criado G" first="G" last="Rodríguez Criado">G. Rodríguez Criado</name>
<affiliation wicri:level="1"><nlm:affiliation>Unidad de Genética Clínica, Hospital Virgen del Rocío, Sevilla, España.</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Unidad de Genética Clínica, Hospital Virgen del Rocío, Sevilla</wicri:regionArea>
<wicri:noRegion>Sevilla</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bondeson, M L" sort="Bondeson, M L" uniqKey="Bondeson M" first="M-L" last="Bondeson">M-L Bondeson</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.</nlm:affiliation>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala</wicri:regionArea>
<orgName type="university">Université d'Uppsala</orgName>
<placeName><settlement type="city">Uppsala</settlement>
<region nuts="1">Svealand</region>
<region nuts="1">East Middle Sweden</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Anneren, G" sort="Anneren, G" uniqKey="Anneren G" first="G" last="Annerén">G. Annerén</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.</nlm:affiliation>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala</wicri:regionArea>
<orgName type="university">Université d'Uppsala</orgName>
<placeName><settlement type="city">Uppsala</settlement>
<region nuts="1">Svealand</region>
<region nuts="1">East Middle Sweden</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Dufke, A" sort="Dufke, A" uniqKey="Dufke A" first="A" last="Dufke">A. Dufke</name>
<affiliation wicri:level="3"><nlm:affiliation>Institut für Medizinische Genetik und Angewandte Genomik, Tübingen, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Medizinische Genetik und Angewandte Genomik, Tübingen</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Tübingen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cohen, M" sort="Cohen, M" uniqKey="Cohen M" first="M" last="Cohen">M. Cohen</name>
<affiliation wicri:level="3"><nlm:affiliation>Kinderzentrum München, München, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Kinderzentrum München, München</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Maldergem, L" sort="Van Maldergem, L" uniqKey="Van Maldergem L" first="L" last="Van Maldergem">L. Van Maldergem</name>
<affiliation wicri:level="4"><nlm:affiliation>Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Génétique Humaine, Université de Franche-Comté, Besançon</wicri:regionArea>
<placeName><region type="region">Bourgogne-Franche-Comté</region>
<region type="old region">Franche-Comté</region>
<settlement type="city">Besançon</settlement>
<settlement type="city" wicri:auto="siege">Besançon</settlement>
</placeName>
<orgName type="university">Université de Franche-Comté</orgName>
</affiliation>
</author>
<author><name sortKey="Vincent Delorme, C" sort="Vincent Delorme, C" uniqKey="Vincent Delorme C" first="C" last="Vincent-Delorme">C. Vincent-Delorme</name>
<affiliation wicri:level="3"><nlm:affiliation>Service de Génétique, Hôpital Jeanne de Flandre CHRU de Lilles, Lille, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique, Hôpital Jeanne de Flandre CHRU de Lilles, Lille</wicri:regionArea>
<placeName><region type="region">Hauts-de-France</region>
<region type="old region">Nord-Pas-de-Calais</region>
<settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Echenne, B" sort="Echenne, B" uniqKey="Echenne B" first="B" last="Echenne">B. Echenne</name>
<affiliation wicri:level="3"><nlm:affiliation>Service de Neuro-Pédiatrie, CHU Montpellier, Montpellier, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Neuro-Pédiatrie, CHU Montpellier, Montpellier</wicri:regionArea>
<placeName><region type="region">Occitanie (région administrative)</region>
<region type="old region">Languedoc-Roussillon</region>
<settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Simon Bouy, B" sort="Simon Bouy, B" uniqKey="Simon Bouy B" first="B" last="Simon-Bouy">B. Simon-Bouy</name>
<affiliation wicri:level="1"><nlm:affiliation>Laboratoire SESEP, Centre hospitalier de Versailles, Le Chesnay, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Laboratoire SESEP, Centre hospitalier de Versailles, Le Chesnay</wicri:regionArea>
<wicri:noRegion>Le Chesnay</wicri:noRegion>
<wicri:noRegion>Le Chesnay</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kleefstra, T" sort="Kleefstra, T" uniqKey="Kleefstra T" first="T" last="Kleefstra">T. Kleefstra</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen</wicri:regionArea>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Willemsen, M" sort="Willemsen, M" uniqKey="Willemsen M" first="M" last="Willemsen">M. Willemsen</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen</wicri:regionArea>
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<author><name sortKey="Devriendt, K" sort="Devriendt, K" uniqKey="Devriendt K" first="K" last="Devriendt">K. Devriendt</name>
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<author><name sortKey="Ullmann, R" sort="Ullmann, R" uniqKey="Ullmann R" first="R" last="Ullmann">R. Ullmann</name>
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<country xml:lang="fr">Allemagne</country>
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<country xml:lang="fr">Allemagne</country>
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<author><name sortKey="Wienker, T F" sort="Wienker, T F" uniqKey="Wienker T" first="T F" last="Wienker">T F Wienker</name>
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<country xml:lang="fr">Allemagne</country>
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<country xml:lang="fr">Allemagne</country>
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<author><name sortKey="Van Bokhoven, H" sort="Van Bokhoven, H" uniqKey="Van Bokhoven H" first="H" last="Van Bokhoven">H. Van Bokhoven</name>
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<country xml:lang="fr">Pays-Bas</country>
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<author><name sortKey="Gecz, J" sort="Gecz, J" uniqKey="Gecz J" first="J" last="Gecz">J. Gecz</name>
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<author><name sortKey="Chen, W" sort="Chen, W" uniqKey="Chen W" first="W" last="Chen">W. Chen</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
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<author><name sortKey="Ropers, H H" sort="Ropers, H H" uniqKey="Ropers H" first="H-H" last="Ropers">H-H Ropers</name>
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<country xml:lang="fr">Allemagne</country>
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<author><name sortKey="Kalscheuer, V M" sort="Kalscheuer, V M" uniqKey="Kalscheuer V" first="V M" last="Kalscheuer">V M Kalscheuer</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.</title>
<author><name sortKey="Hu, H" sort="Hu, H" uniqKey="Hu H" first="H" last="Hu">H. Hu</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Haas, S A" sort="Haas, S A" uniqKey="Haas S" first="S A" last="Haas">S A Haas</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chelly, J" sort="Chelly, J" uniqKey="Chelly J" first="J" last="Chelly">J. Chelly</name>
<affiliation wicri:level="3"><nlm:affiliation>University Paris Descartes, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>University Paris Descartes, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Esch, H" sort="Van Esch, H" uniqKey="Van Esch H" first="H" last="Van Esch">H. Van Esch</name>
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<country xml:lang="fr">Belgique</country>
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</affiliation>
</author>
<author><name sortKey="Raynaud, M" sort="Raynaud, M" uniqKey="Raynaud M" first="M" last="Raynaud">M. Raynaud</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U930 'Imaging and Brain', Tours</wicri:regionArea>
<placeName><region type="region">Centre-Val de Loire</region>
<region type="old region">Région Centre</region>
<settlement type="city">Tours</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="De Brouwer, A P M" sort="De Brouwer, A P M" uniqKey="De Brouwer A" first="A P M" last="De Brouwer">A P M. De Brouwer</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen</wicri:regionArea>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Weinert, S" sort="Weinert, S" uniqKey="Weinert S" first="S" last="Weinert">S. Weinert</name>
<affiliation wicri:level="3"><nlm:affiliation>Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max-Delbrück-Centrum für Molekulare Medizin, Berlin</wicri:regionArea>
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<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Froyen, G" sort="Froyen, G" uniqKey="Froyen G" first="G" last="Froyen">G. Froyen</name>
<affiliation wicri:level="1"><nlm:affiliation>Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven</wicri:regionArea>
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</author>
<author><name sortKey="Frints, S G M" sort="Frints, S G M" uniqKey="Frints S" first="S G M" last="Frints">S G M. Frints</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Maastricht University Medical Center, azM, Maastricht, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Center, azM, Maastricht</wicri:regionArea>
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</author>
<author><name sortKey="Laumonnier, F" sort="Laumonnier, F" uniqKey="Laumonnier F" first="F" last="Laumonnier">F. Laumonnier</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U930 'Imaging and Brain', Tours</wicri:regionArea>
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</author>
<author><name sortKey="Zemojtel, T" sort="Zemojtel, T" uniqKey="Zemojtel T" first="T" last="Zemojtel">T. Zemojtel</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Love, M I" sort="Love, M I" uniqKey="Love M" first="M I" last="Love">M I Love</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
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</author>
<author><name sortKey="Richard, H" sort="Richard, H" uniqKey="Richard H" first="H" last="Richard">H. Richard</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
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<author><name sortKey="Emde, A K" sort="Emde, A K" uniqKey="Emde A" first="A-K" last="Emde">A-K Emde</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bienek, M" sort="Bienek, M" uniqKey="Bienek M" first="M" last="Bienek">M. Bienek</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jensen, C" sort="Jensen, C" uniqKey="Jensen C" first="C" last="Jensen">C. Jensen</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Hambrock, M" sort="Hambrock, M" uniqKey="Hambrock M" first="M" last="Hambrock">M. Hambrock</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
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</placeName>
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<author><name sortKey="Fischer, U" sort="Fischer, U" uniqKey="Fischer U" first="U" last="Fischer">U. Fischer</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
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</placeName>
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<author><name sortKey="Langnick, C" sort="Langnick, C" uniqKey="Langnick C" first="C" last="Langnick">C. Langnick</name>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Feldkamp, M" sort="Feldkamp, M" uniqKey="Feldkamp M" first="M" last="Feldkamp">M. Feldkamp</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max-Delbrück-Centrum für Molekulare Medizin, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
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</affiliation>
</author>
<author><name sortKey="Wissink Lindhout, W" sort="Wissink Lindhout, W" uniqKey="Wissink Lindhout W" first="W" last="Wissink-Lindhout">W. Wissink-Lindhout</name>
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<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen</wicri:regionArea>
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<author><name sortKey="Lebrun, N" sort="Lebrun, N" uniqKey="Lebrun N" first="N" last="Lebrun">N. Lebrun</name>
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<country xml:lang="fr">France</country>
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<placeName><region type="region">Île-de-France</region>
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</author>
<author><name sortKey="Castelnau, L" sort="Castelnau, L" uniqKey="Castelnau L" first="L" last="Castelnau">L. Castelnau</name>
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<placeName><region type="region">Île-de-France</region>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Rucci, J" sort="Rucci, J" uniqKey="Rucci J" first="J" last="Rucci">J. Rucci</name>
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<country xml:lang="fr">France</country>
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<placeName><region type="region">Île-de-France</region>
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</author>
<author><name sortKey="Montjean, R" sort="Montjean, R" uniqKey="Montjean R" first="R" last="Montjean">R. Montjean</name>
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<country xml:lang="fr">France</country>
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<placeName><region type="region">Île-de-France</region>
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</affiliation>
</author>
<author><name sortKey="Dorseuil, O" sort="Dorseuil, O" uniqKey="Dorseuil O" first="O" last="Dorseuil">O. Dorseuil</name>
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<placeName><region type="region">Île-de-France</region>
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<author><name sortKey="Billuart, P" sort="Billuart, P" uniqKey="Billuart P" first="P" last="Billuart">P. Billuart</name>
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<placeName><region type="region">Île-de-France</region>
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<author><name sortKey="Stuhlmann, T" sort="Stuhlmann, T" uniqKey="Stuhlmann T" first="T" last="Stuhlmann">T. Stuhlmann</name>
<affiliation wicri:level="3"><nlm:affiliation>Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max-Delbrück-Centrum für Molekulare Medizin, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Shaw, M" sort="Shaw, M" uniqKey="Shaw M" first="M" last="Shaw">M. Shaw</name>
<affiliation wicri:level="1"><nlm:affiliation>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Corbett, M A" sort="Corbett, M A" uniqKey="Corbett M" first="M A" last="Corbett">M A Corbett</name>
<affiliation wicri:level="1"><nlm:affiliation>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gardner, A" sort="Gardner, A" uniqKey="Gardner A" first="A" last="Gardner">A. Gardner</name>
<affiliation wicri:level="1"><nlm:affiliation>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Willis Owen, S" sort="Willis Owen, S" uniqKey="Willis Owen S" first="S" last="Willis-Owen">S. Willis-Owen</name>
<affiliation wicri:level="1"><nlm:affiliation>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tan, C" sort="Tan, C" uniqKey="Tan C" first="C" last="Tan">C. Tan</name>
<affiliation wicri:level="1"><nlm:affiliation>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Friend, K L" sort="Friend, K L" uniqKey="Friend K" first="K L" last="Friend">K L Friend</name>
<affiliation wicri:level="1"><nlm:affiliation>SA Pathology, Women's and Children's Hospital, Adelaide, SA, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>SA Pathology, Women's and Children's Hospital, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Belet, S" sort="Belet, S" uniqKey="Belet S" first="S" last="Belet">S. Belet</name>
<affiliation wicri:level="1"><nlm:affiliation>Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven</wicri:regionArea>
<wicri:noRegion>Leuven</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Roozendaal, K E P" sort="Van Roozendaal, K E P" uniqKey="Van Roozendaal K" first="K E P" last="Van Roozendaal">K E P. Van Roozendaal</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Maastricht University Medical Center, azM, Maastricht, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Center, azM, Maastricht</wicri:regionArea>
<wicri:noRegion>Maastricht</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Jimenez Pocquet, M" sort="Jimenez Pocquet, M" uniqKey="Jimenez Pocquet M" first="M" last="Jimenez-Pocquet">M. Jimenez-Pocquet</name>
<affiliation wicri:level="3"><nlm:affiliation>Centre Hospitalier Régional Universitaire, Service de Génétique, Tours, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre Hospitalier Régional Universitaire, Service de Génétique, Tours</wicri:regionArea>
<placeName><region type="region">Centre-Val de Loire</region>
<region type="old region">Région Centre</region>
<settlement type="city">Tours</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Moizard, M P" sort="Moizard, M P" uniqKey="Moizard M" first="M-P" last="Moizard">M-P Moizard</name>
<affiliation wicri:level="3"><nlm:affiliation>Inserm U930 'Imaging and Brain', Tours, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U930 'Imaging and Brain', Tours</wicri:regionArea>
<placeName><region type="region">Centre-Val de Loire</region>
<region type="old region">Région Centre</region>
<settlement type="city">Tours</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ronce, N" sort="Ronce, N" uniqKey="Ronce N" first="N" last="Ronce">N. Ronce</name>
<affiliation wicri:level="3"><nlm:affiliation>Inserm U930 'Imaging and Brain', Tours, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U930 'Imaging and Brain', Tours</wicri:regionArea>
<placeName><region type="region">Centre-Val de Loire</region>
<region type="old region">Région Centre</region>
<settlement type="city">Tours</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sun, R" sort="Sun, R" uniqKey="Sun R" first="R" last="Sun">R. Sun</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="O Keeffe, S" sort="O Keeffe, S" uniqKey="O Keeffe S" first="S" last="O'Keeffe">S. O'Keeffe</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chenna, R" sort="Chenna, R" uniqKey="Chenna R" first="R" last="Chenna">R. Chenna</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Bommel, A" sort="Van Bommel, A" uniqKey="Van Bommel A" first="A" last="Van Bömmel">A. Van Bömmel</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Goke, J" sort="Goke, J" uniqKey="Goke J" first="J" last="Göke">J. Göke</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hackett, A" sort="Hackett, A" uniqKey="Hackett A" first="A" last="Hackett">A. Hackett</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW</wicri:regionArea>
<wicri:noRegion>NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Field, M" sort="Field, M" uniqKey="Field M" first="M" last="Field">M. Field</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW</wicri:regionArea>
<wicri:noRegion>NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Christie, L" sort="Christie, L" uniqKey="Christie L" first="L" last="Christie">L. Christie</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW</wicri:regionArea>
<wicri:noRegion>NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Boyle, J" sort="Boyle, J" uniqKey="Boyle J" first="J" last="Boyle">J. Boyle</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW</wicri:regionArea>
<wicri:noRegion>NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Haan, E" sort="Haan, E" uniqKey="Haan E" first="E" last="Haan">E. Haan</name>
<affiliation wicri:level="1"><nlm:affiliation>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nelson, J" sort="Nelson, J" uniqKey="Nelson J" first="J" last="Nelson">J. Nelson</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA</wicri:regionArea>
<wicri:noRegion>WA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Turner, G" sort="Turner, G" uniqKey="Turner G" first="G" last="Turner">G. Turner</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetics of Learning and Disability Service, Hunter Genetics, Waratah, NSW</wicri:regionArea>
<wicri:noRegion>NSW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Baynam, G" sort="Baynam, G" uniqKey="Baynam G" first="G" last="Baynam">G. Baynam</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA</wicri:regionArea>
<wicri:noRegion>WA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gillessen Kaesbach, G" sort="Gillessen Kaesbach, G" uniqKey="Gillessen Kaesbach G" first="G" last="Gillessen-Kaesbach">G. Gillessen-Kaesbach</name>
<affiliation wicri:level="1"><nlm:affiliation>Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universität zu Lübeck, Lübeck</wicri:regionArea>
<wicri:noRegion>Lübeck</wicri:noRegion>
<wicri:noRegion>Lübeck</wicri:noRegion>
<wicri:noRegion>Lübeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Muller, U" sort="Muller, U" uniqKey="Muller U" first="U" last="Müller">U. Müller</name>
<affiliation wicri:level="1"><nlm:affiliation>Institut für Humangenetik, Justus-Liebig-Universität Giessen, Giessen, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Justus-Liebig-Universität Giessen, Giessen</wicri:regionArea>
<wicri:noRegion>Giessen</wicri:noRegion>
<wicri:noRegion>Giessen</wicri:noRegion>
<wicri:noRegion>Giessen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Steinberger, D" sort="Steinberger, D" uniqKey="Steinberger D" first="D" last="Steinberger">D. Steinberger</name>
<affiliation wicri:level="1"><nlm:affiliation>Institut für Humangenetik, Justus-Liebig-Universität Giessen, Giessen, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Justus-Liebig-Universität Giessen, Giessen</wicri:regionArea>
<wicri:noRegion>Giessen</wicri:noRegion>
<wicri:noRegion>Giessen</wicri:noRegion>
<wicri:noRegion>Giessen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Budny, B" sort="Budny, B" uniqKey="Budny B" first="B" last="Budny">B. Budny</name>
<affiliation wicri:level="1"><nlm:affiliation>Chair and Department of Endocrinology, Metabolism and Internal Diseases, Ponzan University of Medical Sciences, Poznan, Poland.</nlm:affiliation>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Chair and Department of Endocrinology, Metabolism and Internal Diseases, Ponzan University of Medical Sciences, Poznan</wicri:regionArea>
<wicri:noRegion>Poznan</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Badura Stronka, M" sort="Badura Stronka, M" uniqKey="Badura Stronka M" first="M" last="Badura-Stronka">M. Badura-Stronka</name>
<affiliation wicri:level="1"><nlm:affiliation>Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.</nlm:affiliation>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan</wicri:regionArea>
<wicri:noRegion>Poznan</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Latos Biele Ska, A" sort="Latos Biele Ska, A" uniqKey="Latos Biele Ska A" first="A" last="Latos-Biele Ska">A. Latos-Biele Ska</name>
<affiliation wicri:level="1"><nlm:affiliation>Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.</nlm:affiliation>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan</wicri:regionArea>
<wicri:noRegion>Poznan</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ousager, L B" sort="Ousager, L B" uniqKey="Ousager L" first="L B" last="Ousager">L B Ousager</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.</nlm:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Genetics, Odense University Hospital, Odense</wicri:regionArea>
<wicri:noRegion>Odense</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wieacker, P" sort="Wieacker, P" uniqKey="Wieacker P" first="P" last="Wieacker">P. Wieacker</name>
<affiliation wicri:level="1"><nlm:affiliation>Institut für Humangenetik, Universitätsklinikum Münster, Muenster, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universitätsklinikum Münster, Muenster</wicri:regionArea>
<wicri:noRegion>Muenster</wicri:noRegion>
<wicri:noRegion>Muenster</wicri:noRegion>
<wicri:noRegion>Muenster</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rodriguez Criado, G" sort="Rodriguez Criado, G" uniqKey="Rodriguez Criado G" first="G" last="Rodríguez Criado">G. Rodríguez Criado</name>
<affiliation wicri:level="1"><nlm:affiliation>Unidad de Genética Clínica, Hospital Virgen del Rocío, Sevilla, España.</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Unidad de Genética Clínica, Hospital Virgen del Rocío, Sevilla</wicri:regionArea>
<wicri:noRegion>Sevilla</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bondeson, M L" sort="Bondeson, M L" uniqKey="Bondeson M" first="M-L" last="Bondeson">M-L Bondeson</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.</nlm:affiliation>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala</wicri:regionArea>
<orgName type="university">Université d'Uppsala</orgName>
<placeName><settlement type="city">Uppsala</settlement>
<region nuts="1">Svealand</region>
<region nuts="1">East Middle Sweden</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Anneren, G" sort="Anneren, G" uniqKey="Anneren G" first="G" last="Annerén">G. Annerén</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.</nlm:affiliation>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala</wicri:regionArea>
<orgName type="university">Université d'Uppsala</orgName>
<placeName><settlement type="city">Uppsala</settlement>
<region nuts="1">Svealand</region>
<region nuts="1">East Middle Sweden</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Dufke, A" sort="Dufke, A" uniqKey="Dufke A" first="A" last="Dufke">A. Dufke</name>
<affiliation wicri:level="3"><nlm:affiliation>Institut für Medizinische Genetik und Angewandte Genomik, Tübingen, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Medizinische Genetik und Angewandte Genomik, Tübingen</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Tübingen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cohen, M" sort="Cohen, M" uniqKey="Cohen M" first="M" last="Cohen">M. Cohen</name>
<affiliation wicri:level="3"><nlm:affiliation>Kinderzentrum München, München, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Kinderzentrum München, München</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Maldergem, L" sort="Van Maldergem, L" uniqKey="Van Maldergem L" first="L" last="Van Maldergem">L. Van Maldergem</name>
<affiliation wicri:level="4"><nlm:affiliation>Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Génétique Humaine, Université de Franche-Comté, Besançon</wicri:regionArea>
<placeName><region type="region">Bourgogne-Franche-Comté</region>
<region type="old region">Franche-Comté</region>
<settlement type="city">Besançon</settlement>
<settlement type="city" wicri:auto="siege">Besançon</settlement>
</placeName>
<orgName type="university">Université de Franche-Comté</orgName>
</affiliation>
</author>
<author><name sortKey="Vincent Delorme, C" sort="Vincent Delorme, C" uniqKey="Vincent Delorme C" first="C" last="Vincent-Delorme">C. Vincent-Delorme</name>
<affiliation wicri:level="3"><nlm:affiliation>Service de Génétique, Hôpital Jeanne de Flandre CHRU de Lilles, Lille, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique, Hôpital Jeanne de Flandre CHRU de Lilles, Lille</wicri:regionArea>
<placeName><region type="region">Hauts-de-France</region>
<region type="old region">Nord-Pas-de-Calais</region>
<settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Echenne, B" sort="Echenne, B" uniqKey="Echenne B" first="B" last="Echenne">B. Echenne</name>
<affiliation wicri:level="3"><nlm:affiliation>Service de Neuro-Pédiatrie, CHU Montpellier, Montpellier, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Neuro-Pédiatrie, CHU Montpellier, Montpellier</wicri:regionArea>
<placeName><region type="region">Occitanie (région administrative)</region>
<region type="old region">Languedoc-Roussillon</region>
<settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Simon Bouy, B" sort="Simon Bouy, B" uniqKey="Simon Bouy B" first="B" last="Simon-Bouy">B. Simon-Bouy</name>
<affiliation wicri:level="1"><nlm:affiliation>Laboratoire SESEP, Centre hospitalier de Versailles, Le Chesnay, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Laboratoire SESEP, Centre hospitalier de Versailles, Le Chesnay</wicri:regionArea>
<wicri:noRegion>Le Chesnay</wicri:noRegion>
<wicri:noRegion>Le Chesnay</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kleefstra, T" sort="Kleefstra, T" uniqKey="Kleefstra T" first="T" last="Kleefstra">T. Kleefstra</name>
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<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen</wicri:regionArea>
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<region type="province" nuts="2">Gueldre</region>
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<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen</wicri:regionArea>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
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<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Human Genetics, University Hospitals Leuven, Leuven</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Devriendt, K" sort="Devriendt, K" uniqKey="Devriendt K" first="K" last="Devriendt">K. Devriendt</name>
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<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Human Genetics, University Hospitals Leuven, Leuven</wicri:regionArea>
<wicri:noRegion>Leuven</wicri:noRegion>
</affiliation>
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<author><name sortKey="Ullmann, R" sort="Ullmann, R" uniqKey="Ullmann R" first="R" last="Ullmann">R. Ullmann</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
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<author><name sortKey="Vingron, M" sort="Vingron, M" uniqKey="Vingron M" first="M" last="Vingron">M. Vingron</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
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<author><name sortKey="Wrogemann, K" sort="Wrogemann, K" uniqKey="Wrogemann K" first="K" last="Wrogemann">K. Wrogemann</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
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<author><name sortKey="Wienker, T F" sort="Wienker, T F" uniqKey="Wienker T" first="T F" last="Wienker">T F Wienker</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tzschach, A" sort="Tzschach, A" uniqKey="Tzschach A" first="A" last="Tzschach">A. Tzschach</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Bokhoven, H" sort="Van Bokhoven, H" uniqKey="Van Bokhoven H" first="H" last="Van Bokhoven">H. Van Bokhoven</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen</wicri:regionArea>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gecz, J" sort="Gecz, J" uniqKey="Gecz J" first="J" last="Gecz">J. Gecz</name>
<affiliation wicri:level="1"><nlm:affiliation>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Jentsch, T J" sort="Jentsch, T J" uniqKey="Jentsch T" first="T J" last="Jentsch">T J Jentsch</name>
<affiliation wicri:level="3"><nlm:affiliation>Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max-Delbrück-Centrum für Molekulare Medizin, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chen, W" sort="Chen, W" uniqKey="Chen W" first="W" last="Chen">W. Chen</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ropers, H H" sort="Ropers, H H" uniqKey="Ropers H" first="H-H" last="Ropers">H-H Ropers</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kalscheuer, V M" sort="Kalscheuer, V M" uniqKey="Kalscheuer V" first="V M" last="Kalscheuer">V M Kalscheuer</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin</wicri:regionArea>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Molecular psychiatry</title>
<idno type="eISSN">1476-5578</idno>
<imprint><date when="2016" type="published">2016</date>
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<term>Adolescent</term>
<term>Adult</term>
<term>Animals</term>
<term>Cells, Cultured</term>
<term>Chloride Channels (genetics)</term>
<term>Chloride Channels (metabolism)</term>
<term>Cohort Studies</term>
<term>Cyclin-Dependent Kinases (genetics)</term>
<term>Genetic Variation</term>
<term>High-Throughput Nucleotide Sequencing</term>
<term>Histone Acetyltransferases (genetics)</term>
<term>Humans</term>
<term>Intracellular Signaling Peptides and Proteins (genetics)</term>
<term>Male</term>
<term>Mental Retardation, X-Linked (genetics)</term>
<term>Mice, Knockout</term>
<term>Microfilament Proteins (genetics)</term>
<term>Neurons (metabolism)</term>
<term>Neurons (pathology)</term>
<term>Nuclear Proteins (genetics)</term>
<term>RNA, Messenger (metabolism)</term>
<term>TATA-Binding Protein Associated Factors (genetics)</term>
<term>Transcription Factor TFIID (genetics)</term>
<term>Ubiquitin-Protein Ligases (genetics)</term>
</keywords>
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<term>Adolescent</term>
<term>Adulte</term>
<term>Animaux</term>
<term>Canaux chlorure (génétique)</term>
<term>Canaux chlorure (métabolisme)</term>
<term>Cellules cultivées</term>
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<term>Facteurs associés à la protéine de liaison à la boite TATA (génétique)</term>
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<term>Protéines nucléaires (génétique)</term>
<term>Retard mental lié à l'X (génétique)</term>
<term>Souris knockout</term>
<term>Séquençage nucléotidique à haut débit</term>
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<term>Variation génétique</term>
<term>Études de cohortes</term>
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<front><div type="abstract" xml:lang="en">X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. After stringent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization. Co-segregation analysis of potential clinically relevant changes revealed that 80 families (20%) carried pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4(-/-) mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual disability in particular. We suggest that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X-chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25644381</PMID>
<DateCreated><Year>2015</Year>
<Month>12</Month>
<Day>18</Day>
</DateCreated>
<DateCompleted><Year>2016</Year>
<Month>09</Month>
<Day>16</Day>
</DateCompleted>
<DateRevised><Year>2017</Year>
<Month>05</Month>
<Day>18</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1476-5578</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>21</Volume>
<Issue>1</Issue>
<PubDate><Year>2016</Year>
<Month>Jan</Month>
</PubDate>
</JournalIssue>
<Title>Molecular psychiatry</Title>
<ISOAbbreviation>Mol. Psychiatry</ISOAbbreviation>
</Journal>
<ArticleTitle>X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.</ArticleTitle>
<Pagination><MedlinePgn>133-48</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1038/mp.2014.193</ELocationID>
<Abstract><AbstractText>X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. After stringent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization. Co-segregation analysis of potential clinically relevant changes revealed that 80 families (20%) carried pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4(-/-) mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual disability in particular. We suggest that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X-chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Hu</LastName>
<ForeName>H</ForeName>
<Initials>H</Initials>
<AffiliationInfo><Affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Haas</LastName>
<ForeName>S A</ForeName>
<Initials>SA</Initials>
<AffiliationInfo><Affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Chelly</LastName>
<ForeName>J</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>University Paris Descartes, Paris, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Institut National de la Santé et de la Recherche Médicale Unité 1016, Institut Cochin, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Van Esch</LastName>
<ForeName>H</ForeName>
<Initials>H</Initials>
<AffiliationInfo><Affiliation>Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Raynaud</LastName>
<ForeName>M</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Inserm U930 'Imaging and Brain', Tours, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>University François-Rabelais, Tours, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Centre Hospitalier Régional Universitaire, Service de Génétique, Tours, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>de Brouwer</LastName>
<ForeName>A P M</ForeName>
<Initials>AP</Initials>
<AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Weinert</LastName>
<ForeName>S</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Leibniz-Institut für Molekulare Pharmakologie, Berlin, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Froyen</LastName>
<ForeName>G</ForeName>
<Initials>G</Initials>
<AffiliationInfo><Affiliation>Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Human Genome Laboratory, Department of Human Genetics, K.U. Leuven, Leuven, Belgium.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Frints</LastName>
<ForeName>S G M</ForeName>
<Initials>SG</Initials>
<AffiliationInfo><Affiliation>Department of Clinical Genetics, Maastricht University Medical Center, azM, Maastricht, The Netherlands.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>School for Oncology and Developmental Biology, GROW, Maastricht University, Maastricht, The Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Laumonnier</LastName>
<ForeName>F</ForeName>
<Initials>F</Initials>
<AffiliationInfo><Affiliation>Inserm U930 'Imaging and Brain', Tours, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>University François-Rabelais, Tours, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Zemojtel</LastName>
<ForeName>T</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Love</LastName>
<ForeName>M I</ForeName>
<Initials>MI</Initials>
<AffiliationInfo><Affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Richard</LastName>
<ForeName>H</ForeName>
<Initials>H</Initials>
<AffiliationInfo><Affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Emde</LastName>
<ForeName>A-K</ForeName>
<Initials>AK</Initials>
<AffiliationInfo><Affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Bienek</LastName>
<ForeName>M</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Jensen</LastName>
<ForeName>C</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Hambrock</LastName>
<ForeName>M</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Fischer</LastName>
<ForeName>U</ForeName>
<Initials>U</Initials>
<AffiliationInfo><Affiliation>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Langnick</LastName>
<ForeName>C</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Feldkamp</LastName>
<ForeName>M</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Wissink-Lindhout</LastName>
<ForeName>W</ForeName>
<Initials>W</Initials>
<AffiliationInfo><Affiliation>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Lebrun</LastName>
<ForeName>N</ForeName>
<Initials>N</Initials>
<AffiliationInfo><Affiliation>University Paris Descartes, Paris, France.</Affiliation>
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<Month>08</Month>
<Day>04</Day>
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<PubMedPubDate PubStatus="revised"><Year>2014</Year>
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<Day>17</Day>
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<PubMedPubDate PubStatus="accepted"><Year>2014</Year>
<Month>12</Month>
<Day>08</Day>
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<ArticleId IdType="doi">10.1038/mp.2014.193</ArticleId>
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<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Belgique</li>
<li>Danemark</li>
<li>Espagne</li>
<li>France</li>
<li>Pays-Bas</li>
<li>Pologne</li>
<li>Suède</li>
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<region><li>Bade-Wurtemberg</li>
<li>Bavière</li>
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<li>Bourgogne-Franche-Comté</li>
<li>Centre-Val de Loire</li>
<li>District de Haute-Bavière</li>
<li>District de Tübingen</li>
<li>East Middle Sweden</li>
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<li>Gueldre</li>
<li>Hauts-de-France</li>
<li>Languedoc-Roussillon</li>
<li>Nord-Pas-de-Calais</li>
<li>Occitanie (région administrative)</li>
<li>Région Centre</li>
<li>Svealand</li>
<li>Île-de-France</li>
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<li>Besançon</li>
<li>Lille</li>
<li>Montpellier</li>
<li>Munich</li>
<li>Nimègue</li>
<li>Paris</li>
<li>Tours</li>
<li>Tübingen</li>
<li>Uppsala</li>
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