X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
Identifieur interne : 002218 ( Ncbi/Curation ); précédent : 002217; suivant : 002219X-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, Royaume-Uni] ; 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, Canada] ; 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 [ 1359-4184 ] ; 2015.
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 (
Url:
DOI: 10.1038/mp.2014.193
PubMed: 25644381
PubMed Central: 5414091
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PMC:5414091Le document en format XML
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<author><name sortKey="Zemojtel, T" sort="Zemojtel, T" uniqKey="Zemojtel T" first="T" last="Zemojtel">T. Zemojtel</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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</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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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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, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Bienek, M" sort="Bienek, M" uniqKey="Bienek M" first="M" last="Bienek">M. Bienek</name>
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, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</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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, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Hambrock, M" sort="Hambrock, M" uniqKey="Hambrock M" first="M" last="Hambrock">M. Hambrock</name>
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, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Fischer, U" sort="Fischer, U" uniqKey="Fischer U" first="U" last="Fischer">U. Fischer</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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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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, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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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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, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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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="1"><nlm:aff id="aff9"><institution>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour</institution>
, Nijmegen,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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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="1"><nlm:aff id="aff3"><institution>University Paris Descartes</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>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</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Castelnau, L" sort="Castelnau, L" uniqKey="Castelnau L" first="L" last="Castelnau">L. Castelnau</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>University Paris Descartes</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>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</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Rucci, J" sort="Rucci, J" uniqKey="Rucci J" first="J" last="Rucci">J. Rucci</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>University Paris Descartes</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>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</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Montjean, R" sort="Montjean, R" uniqKey="Montjean R" first="R" last="Montjean">R. Montjean</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>University Paris Descartes</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>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</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Dorseuil, O" sort="Dorseuil, O" uniqKey="Dorseuil O" first="O" last="Dorseuil">O. Dorseuil</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>University Paris Descartes</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>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</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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</author>
<author><name sortKey="Billuart, P" sort="Billuart, P" uniqKey="Billuart P" first="P" last="Billuart">P. Billuart</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>University Paris Descartes</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>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</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Stuhlmann, T" sort="Stuhlmann, T" uniqKey="Stuhlmann T" first="T" last="Stuhlmann">T. Stuhlmann</name>
<affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Max-Delbrück-Centrum für Molekulare Medizin</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Leibniz-Institut für Molekulare Pharmakologie</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff16"><institution>School of Paediatrics and Reproductive Health, The University of Adelaide</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff17"><institution>Robinson Research Institute, The University of Adelaide</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff16"><institution>School of Paediatrics and Reproductive Health, The University of Adelaide</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff17"><institution>Robinson Research Institute, The University of Adelaide</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff16"><institution>School of Paediatrics and Reproductive Health, The University of Adelaide</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff17"><institution>Robinson Research Institute, The University of Adelaide</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff16"><institution>School of Paediatrics and Reproductive Health, The University of Adelaide</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff18"><institution>National Heart and Lung Institute, Imperial College London</institution>
, London,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff16"><institution>School of Paediatrics and Reproductive Health, The University of Adelaide</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff19"><institution>SA Pathology, Women's and Children's Hospital</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff12"><institution>Human Genome Laboratory, VIB Center for the Biology of Disease</institution>
, Leuven,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Human Genome Laboratory, Department of Human Genetics, K.U. Leuven</institution>
, Leuven,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff14"><institution>Department of Clinical Genetics, Maastricht University Medical Center, azM</institution>
, Maastricht,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff15"><institution>School for Oncology and Developmental Biology, GROW, Maastricht University</institution>
, Maastricht,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff8"><institution>Centre Hospitalier Régional Universitaire, Service de Génétique</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff6"><institution>Inserm U930 ‘Imaging and Brain'</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff7"><institution>University François-Rabelais</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Centre Hospitalier Régional Universitaire, Service de Génétique</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ronce, N" sort="Ronce, N" uniqKey="Ronce N" first="N" last="Ronce">N. Ronce</name>
<affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Inserm U930 ‘Imaging and Brain'</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff7"><institution>University François-Rabelais</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Centre Hospitalier Régional Universitaire, Service de Génétique</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sun, R" sort="Sun, R" uniqKey="Sun R" first="R" last="Sun">R. Sun</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff2"><institution>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Chenna, R" sort="Chenna, R" uniqKey="Chenna R" first="R" last="Chenna">R. Chenna</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff2"><institution>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Goke, J" sort="Goke, J" uniqKey="Goke J" first="J" last="Göke">J. Göke</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff20"><institution>Genetics of Learning and Disability Service, Hunter Genetics</institution>
, Waratah, NSW,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff20"><institution>Genetics of Learning and Disability Service, Hunter Genetics</institution>
, Waratah, NSW,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff20"><institution>Genetics of Learning and Disability Service, Hunter Genetics</institution>
, Waratah, NSW,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff20"><institution>Genetics of Learning and Disability Service, Hunter Genetics</institution>
, Waratah, NSW,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff16"><institution>School of Paediatrics and Reproductive Health, The University of Adelaide</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff19"><institution>SA Pathology, Women's and Children's Hospital</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff21"><institution>Genetic Services of Western Australia, King Edward Memorial Hospital</institution>
, Perth, WA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff20"><institution>Genetics of Learning and Disability Service, Hunter Genetics</institution>
, Waratah, NSW,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff21"><institution>Genetic Services of Western Australia, King Edward Memorial Hospital</institution>
, Perth, WA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff22"><institution>School of Paediatrics and Child Health, University of Western Australia</institution>
, Perth, WA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff23"><institution>Institute for Immunology and Infectious Diseases, Murdoch University</institution>
, Perth, WA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff24"><institution>Telethon Kids Institute</institution>
, Perth, WA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff25"><institution>Institut für Humangenetik, Universität zu Lübeck</institution>
, Lübeck,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff26"><institution>Institut für Humangenetik, Justus-Liebig-Universität Giessen</institution>
, Giessen,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff27"><institution>bio.logis Center for Human Genetics</institution>
, Frankfurt a. M.,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff26"><institution>Institut für Humangenetik, Justus-Liebig-Universität Giessen</institution>
, Giessen,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff27"><institution>bio.logis Center for Human Genetics</institution>
, Frankfurt a. M.,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff28"><institution>Chair and Department of Endocrinology, Metabolism and Internal Diseases</institution>
<institution>, Ponzan University of Medical Sciences,</institution>
Poznan,<country>Poland</country>
</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff29"><institution>Chair and Department of Medical Genetics, Poznan University of Medical Sciences</institution>
, Poznan,<country>Poland</country>
</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff29"><institution>Chair and Department of Medical Genetics, Poznan University of Medical Sciences</institution>
, Poznan,<country>Poland</country>
</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff30"><institution>Department of Clinical Genetics, Odense University Hospital</institution>
, Odense,<country>Denmark</country>
</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff31"><institution>Institut für Humangenetik, Universitätsklinikum Münster</institution>
, Muenster,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff32"><institution>Unidad de Genética Clínica, Hospital Virgen del Rocío</institution>
, Sevilla,<country>España</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff33"><institution>Department of Immunology, Genetics and Pathology, Uppsala University</institution>
, Uppsala,<country>Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Anneren, G" sort="Anneren, G" uniqKey="Anneren G" first="G" last="Annerén">G. Annerén</name>
<affiliation wicri:level="1"><nlm:aff id="aff33"><institution>Department of Immunology, Genetics and Pathology, Uppsala University</institution>
, Uppsala,<country>Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Dufke, A" sort="Dufke, A" uniqKey="Dufke A" first="A" last="Dufke">A. Dufke</name>
<affiliation wicri:level="1"><nlm:aff id="aff34"><institution>Institut für Medizinische Genetik und Angewandte Genomik</institution>
, Tübingen,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Cohen, M" sort="Cohen, M" uniqKey="Cohen M" first="M" last="Cohen">M. Cohen</name>
<affiliation wicri:level="1"><nlm:aff id="aff35"><institution>Kinderzentrum München</institution>
, München,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff36"><institution>Centre de Génétique Humaine, Université de Franche-Comté</institution>
, Besançon,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff37"><institution>Service de Génétique, Hôpital Jeanne de Flandre CHRU de Lilles</institution>
, Lille,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Echenne, B" sort="Echenne, B" uniqKey="Echenne B" first="B" last="Echenne">B. Echenne</name>
<affiliation wicri:level="1"><nlm:aff id="aff38"><institution>Service de Neuro-Pédiatrie, CHU Montpellier</institution>
, Montpellier,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff39"><institution>Laboratoire SESEP, Centre hospitalier de Versailles</institution>
, Le Chesnay,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kleefstra, T" sort="Kleefstra, T" uniqKey="Kleefstra T" first="T" last="Kleefstra">T. Kleefstra</name>
<affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour</institution>
, Nijmegen,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Willemsen, M" sort="Willemsen, M" uniqKey="Willemsen M" first="M" last="Willemsen">M. Willemsen</name>
<affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour</institution>
, Nijmegen,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Fryns, J P" sort="Fryns, J P" uniqKey="Fryns J" first="J-P" last="Fryns">J-P Fryns</name>
<affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Center for Human Genetics, University Hospitals Leuven</institution>
, Leuven,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Devriendt, K" sort="Devriendt, K" uniqKey="Devriendt K" first="K" last="Devriendt">K. Devriendt</name>
<affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Center for Human Genetics, University Hospitals Leuven</institution>
, Leuven,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ullmann, R" sort="Ullmann, R" uniqKey="Ullmann R" first="R" last="Ullmann">R. Ullmann</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Vingron, M" sort="Vingron, M" uniqKey="Vingron M" first="M" last="Vingron">M. Vingron</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wrogemann, K" sort="Wrogemann, K" uniqKey="Wrogemann K" first="K" last="Wrogemann">K. Wrogemann</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff40"><institution>Department of Biochemistry and Medical Genetics, University of Manitoba</institution>
, Winnipeg, MB,<country>Canada</country>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<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="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Tzschach, A" sort="Tzschach, A" uniqKey="Tzschach A" first="A" last="Tzschach">A. Tzschach</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff9"><institution>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour</institution>
, Nijmegen,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff16"><institution>School of Paediatrics and Reproductive Health, The University of Adelaide</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff17"><institution>Robinson Research Institute, The University of Adelaide</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff10"><institution>Max-Delbrück-Centrum für Molekulare Medizin</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Leibniz-Institut für Molekulare Pharmakologie</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Chen, W" sort="Chen, W" uniqKey="Chen W" first="W" last="Chen">W. Chen</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Max-Delbrück-Centrum für Molekulare Medizin</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">25644381</idno>
<idno type="pmc">5414091</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5414091</idno>
<idno type="RBID">PMC:5414091</idno>
<idno type="doi">10.1038/mp.2014.193</idno>
<date when="2015">2015</date>
<idno type="wicri:Area/Pmc/Corpus">000730</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000730</idno>
<idno type="wicri:Area/Pmc/Curation">000729</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000729</idno>
<idno type="wicri:Area/Pmc/Checkpoint">000C33</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000C33</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="wicri:Area/PubMed/Corpus">002572</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002572</idno>
<idno type="wicri:Area/PubMed/Curation">002504</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002504</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002504</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">002504</idno>
<idno type="wicri:Area/Ncbi/Merge">002218</idno>
<idno type="wicri:Area/Ncbi/Curation">002218</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">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>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff2"><institution>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Chelly, J" sort="Chelly, J" uniqKey="Chelly J" first="J" last="Chelly">J. Chelly</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>University Paris Descartes</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>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</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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>
<affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Center for Human Genetics, University Hospitals Leuven</institution>
, Leuven,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Raynaud, M" sort="Raynaud, M" uniqKey="Raynaud M" first="M" last="Raynaud">M. Raynaud</name>
<affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Inserm U930 ‘Imaging and Brain'</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff7"><institution>University François-Rabelais</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Centre Hospitalier Régional Universitaire, Service de Génétique</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff9"><institution>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour</institution>
, Nijmegen,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Weinert, S" sort="Weinert, S" uniqKey="Weinert S" first="S" last="Weinert">S. Weinert</name>
<affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Max-Delbrück-Centrum für Molekulare Medizin</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Leibniz-Institut für Molekulare Pharmakologie</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff12"><institution>Human Genome Laboratory, VIB Center for the Biology of Disease</institution>
, Leuven,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Human Genome Laboratory, Department of Human Genetics, K.U. Leuven</institution>
, Leuven,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</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:aff id="aff14"><institution>Department of Clinical Genetics, Maastricht University Medical Center, azM</institution>
, Maastricht,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff15"><institution>School for Oncology and Developmental Biology, GROW, Maastricht University</institution>
, Maastricht,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Laumonnier, F" sort="Laumonnier, F" uniqKey="Laumonnier F" first="F" last="Laumonnier">F. Laumonnier</name>
<affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Inserm U930 ‘Imaging and Brain'</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff7"><institution>University François-Rabelais</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Zemojtel, T" sort="Zemojtel, T" uniqKey="Zemojtel T" first="T" last="Zemojtel">T. Zemojtel</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff2"><institution>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Richard, H" sort="Richard, H" uniqKey="Richard H" first="H" last="Richard">H. Richard</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<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="1"><nlm:aff id="aff2"><institution>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bienek, M" sort="Bienek, M" uniqKey="Bienek M" first="M" last="Bienek">M. Bienek</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Jensen, C" sort="Jensen, C" uniqKey="Jensen C" first="C" last="Jensen">C. Jensen</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hambrock, M" sort="Hambrock, M" uniqKey="Hambrock M" first="M" last="Hambrock">M. Hambrock</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Fischer, U" sort="Fischer, U" uniqKey="Fischer U" first="U" last="Fischer">U. Fischer</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Langnick, C" sort="Langnick, C" uniqKey="Langnick C" first="C" last="Langnick">C. Langnick</name>
<affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Max-Delbrück-Centrum für Molekulare Medizin</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Feldkamp, M" sort="Feldkamp, M" uniqKey="Feldkamp M" first="M" last="Feldkamp">M. Feldkamp</name>
<affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Max-Delbrück-Centrum für Molekulare Medizin</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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>
<affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour</institution>
, Nijmegen,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lebrun, N" sort="Lebrun, N" uniqKey="Lebrun N" first="N" last="Lebrun">N. Lebrun</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>University Paris Descartes</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>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</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Castelnau, L" sort="Castelnau, L" uniqKey="Castelnau L" first="L" last="Castelnau">L. Castelnau</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>University Paris Descartes</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>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</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Rucci, J" sort="Rucci, J" uniqKey="Rucci J" first="J" last="Rucci">J. Rucci</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>University Paris Descartes</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>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</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Montjean, R" sort="Montjean, R" uniqKey="Montjean R" first="R" last="Montjean">R. Montjean</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>University Paris Descartes</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>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</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Dorseuil, O" sort="Dorseuil, O" uniqKey="Dorseuil O" first="O" last="Dorseuil">O. Dorseuil</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>University Paris Descartes</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>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</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Billuart, P" sort="Billuart, P" uniqKey="Billuart P" first="P" last="Billuart">P. Billuart</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>University Paris Descartes</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>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</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Stuhlmann, T" sort="Stuhlmann, T" uniqKey="Stuhlmann T" first="T" last="Stuhlmann">T. Stuhlmann</name>
<affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Max-Delbrück-Centrum für Molekulare Medizin</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Leibniz-Institut für Molekulare Pharmakologie</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff16"><institution>School of Paediatrics and Reproductive Health, The University of Adelaide</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff17"><institution>Robinson Research Institute, The University of Adelaide</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff16"><institution>School of Paediatrics and Reproductive Health, The University of Adelaide</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff17"><institution>Robinson Research Institute, The University of Adelaide</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff16"><institution>School of Paediatrics and Reproductive Health, The University of Adelaide</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff17"><institution>Robinson Research Institute, The University of Adelaide</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff16"><institution>School of Paediatrics and Reproductive Health, The University of Adelaide</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff18"><institution>National Heart and Lung Institute, Imperial College London</institution>
, London,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff16"><institution>School of Paediatrics and Reproductive Health, The University of Adelaide</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff19"><institution>SA Pathology, Women's and Children's Hospital</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff12"><institution>Human Genome Laboratory, VIB Center for the Biology of Disease</institution>
, Leuven,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Human Genome Laboratory, Department of Human Genetics, K.U. Leuven</institution>
, Leuven,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff14"><institution>Department of Clinical Genetics, Maastricht University Medical Center, azM</institution>
, Maastricht,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff15"><institution>School for Oncology and Developmental Biology, GROW, Maastricht University</institution>
, Maastricht,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff8"><institution>Centre Hospitalier Régional Universitaire, Service de Génétique</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff6"><institution>Inserm U930 ‘Imaging and Brain'</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff7"><institution>University François-Rabelais</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Centre Hospitalier Régional Universitaire, Service de Génétique</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ronce, N" sort="Ronce, N" uniqKey="Ronce N" first="N" last="Ronce">N. Ronce</name>
<affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Inserm U930 ‘Imaging and Brain'</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff7"><institution>University François-Rabelais</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Centre Hospitalier Régional Universitaire, Service de Génétique</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sun, R" sort="Sun, R" uniqKey="Sun R" first="R" last="Sun">R. Sun</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff2"><institution>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Chenna, R" sort="Chenna, R" uniqKey="Chenna R" first="R" last="Chenna">R. Chenna</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff2"><institution>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Goke, J" sort="Goke, J" uniqKey="Goke J" first="J" last="Göke">J. Göke</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff20"><institution>Genetics of Learning and Disability Service, Hunter Genetics</institution>
, Waratah, NSW,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff20"><institution>Genetics of Learning and Disability Service, Hunter Genetics</institution>
, Waratah, NSW,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff20"><institution>Genetics of Learning and Disability Service, Hunter Genetics</institution>
, Waratah, NSW,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff20"><institution>Genetics of Learning and Disability Service, Hunter Genetics</institution>
, Waratah, NSW,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff16"><institution>School of Paediatrics and Reproductive Health, The University of Adelaide</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff19"><institution>SA Pathology, Women's and Children's Hospital</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff21"><institution>Genetic Services of Western Australia, King Edward Memorial Hospital</institution>
, Perth, WA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff20"><institution>Genetics of Learning and Disability Service, Hunter Genetics</institution>
, Waratah, NSW,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff21"><institution>Genetic Services of Western Australia, King Edward Memorial Hospital</institution>
, Perth, WA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff22"><institution>School of Paediatrics and Child Health, University of Western Australia</institution>
, Perth, WA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff23"><institution>Institute for Immunology and Infectious Diseases, Murdoch University</institution>
, Perth, WA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff24"><institution>Telethon Kids Institute</institution>
, Perth, WA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff25"><institution>Institut für Humangenetik, Universität zu Lübeck</institution>
, Lübeck,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff26"><institution>Institut für Humangenetik, Justus-Liebig-Universität Giessen</institution>
, Giessen,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff27"><institution>bio.logis Center for Human Genetics</institution>
, Frankfurt a. M.,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff26"><institution>Institut für Humangenetik, Justus-Liebig-Universität Giessen</institution>
, Giessen,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff27"><institution>bio.logis Center for Human Genetics</institution>
, Frankfurt a. M.,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff28"><institution>Chair and Department of Endocrinology, Metabolism and Internal Diseases</institution>
<institution>, Ponzan University of Medical Sciences,</institution>
Poznan,<country>Poland</country>
</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff29"><institution>Chair and Department of Medical Genetics, Poznan University of Medical Sciences</institution>
, Poznan,<country>Poland</country>
</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff29"><institution>Chair and Department of Medical Genetics, Poznan University of Medical Sciences</institution>
, Poznan,<country>Poland</country>
</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff30"><institution>Department of Clinical Genetics, Odense University Hospital</institution>
, Odense,<country>Denmark</country>
</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff31"><institution>Institut für Humangenetik, Universitätsklinikum Münster</institution>
, Muenster,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff32"><institution>Unidad de Genética Clínica, Hospital Virgen del Rocío</institution>
, Sevilla,<country>España</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff33"><institution>Department of Immunology, Genetics and Pathology, Uppsala University</institution>
, Uppsala,<country>Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Anneren, G" sort="Anneren, G" uniqKey="Anneren G" first="G" last="Annerén">G. Annerén</name>
<affiliation wicri:level="1"><nlm:aff id="aff33"><institution>Department of Immunology, Genetics and Pathology, Uppsala University</institution>
, Uppsala,<country>Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Dufke, A" sort="Dufke, A" uniqKey="Dufke A" first="A" last="Dufke">A. Dufke</name>
<affiliation wicri:level="1"><nlm:aff id="aff34"><institution>Institut für Medizinische Genetik und Angewandte Genomik</institution>
, Tübingen,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Cohen, M" sort="Cohen, M" uniqKey="Cohen M" first="M" last="Cohen">M. Cohen</name>
<affiliation wicri:level="1"><nlm:aff id="aff35"><institution>Kinderzentrum München</institution>
, München,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff36"><institution>Centre de Génétique Humaine, Université de Franche-Comté</institution>
, Besançon,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff37"><institution>Service de Génétique, Hôpital Jeanne de Flandre CHRU de Lilles</institution>
, Lille,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Echenne, B" sort="Echenne, B" uniqKey="Echenne B" first="B" last="Echenne">B. Echenne</name>
<affiliation wicri:level="1"><nlm:aff id="aff38"><institution>Service de Neuro-Pédiatrie, CHU Montpellier</institution>
, Montpellier,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff39"><institution>Laboratoire SESEP, Centre hospitalier de Versailles</institution>
, Le Chesnay,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kleefstra, T" sort="Kleefstra, T" uniqKey="Kleefstra T" first="T" last="Kleefstra">T. Kleefstra</name>
<affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour</institution>
, Nijmegen,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Willemsen, M" sort="Willemsen, M" uniqKey="Willemsen M" first="M" last="Willemsen">M. Willemsen</name>
<affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour</institution>
, Nijmegen,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Fryns, J P" sort="Fryns, J P" uniqKey="Fryns J" first="J-P" last="Fryns">J-P Fryns</name>
<affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Center for Human Genetics, University Hospitals Leuven</institution>
, Leuven,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Devriendt, K" sort="Devriendt, K" uniqKey="Devriendt K" first="K" last="Devriendt">K. Devriendt</name>
<affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Center for Human Genetics, University Hospitals Leuven</institution>
, Leuven,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ullmann, R" sort="Ullmann, R" uniqKey="Ullmann R" first="R" last="Ullmann">R. Ullmann</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Vingron, M" sort="Vingron, M" uniqKey="Vingron M" first="M" last="Vingron">M. Vingron</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wrogemann, K" sort="Wrogemann, K" uniqKey="Wrogemann K" first="K" last="Wrogemann">K. Wrogemann</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff40"><institution>Department of Biochemistry and Medical Genetics, University of Manitoba</institution>
, Winnipeg, MB,<country>Canada</country>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<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="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Tzschach, A" sort="Tzschach, A" uniqKey="Tzschach A" first="A" last="Tzschach">A. Tzschach</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff9"><institution>Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour</institution>
, Nijmegen,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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:aff id="aff16"><institution>School of Paediatrics and Reproductive Health, The University of Adelaide</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff17"><institution>Robinson Research Institute, The University of Adelaide</institution>
, Adelaide, SA,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff10"><institution>Max-Delbrück-Centrum für Molekulare Medizin</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Leibniz-Institut für Molekulare Pharmakologie</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Chen, W" sort="Chen, W" uniqKey="Chen W" first="W" last="Chen">W. Chen</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Max-Delbrück-Centrum für Molekulare Medizin</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</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="1"><nlm:aff id="aff1"><institution>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics</institution>
, Berlin,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">Molecular Psychiatry</title>
<idno type="ISSN">1359-4184</idno>
<idno type="eISSN">1476-5578</idno>
<imprint><date when="2015">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adaptor Proteins, Signal Transducing (genetics)</term>
<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>
<keywords scheme="KwdFr" xml:lang="fr"><term>ARN messager (métabolisme)</term>
<term>Adolescent</term>
<term>Adulte</term>
<term>Animaux</term>
<term>Canaux chlorure (génétique)</term>
<term>Canaux chlorure (métabolisme)</term>
<term>Cellules cultivées</term>
<term>Facteur de transcription TFIID (génétique)</term>
<term>Facteurs associés à la protéine de liaison à la boite TATA (génétique)</term>
<term>Histone acetyltransferases (génétique)</term>
<term>Humains</term>
<term>Kinases cyclines-dépendantes (génétique)</term>
<term>Mâle</term>
<term>Neurones (anatomopathologie)</term>
<term>Neurones (métabolisme)</term>
<term>Protéines adaptatrices de la transduction du signal (génétique)</term>
<term>Protéines des microfilaments (génétique)</term>
<term>Protéines et peptides de signalisation intracellulaire (génétique)</term>
<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>
<term>Ubiquitin-protein ligases (génétique)</term>
<term>Variation génétique</term>
<term>Études de cohortes</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Adaptor Proteins, Signal Transducing</term>
<term>Chloride Channels</term>
<term>Cyclin-Dependent Kinases</term>
<term>Histone Acetyltransferases</term>
<term>Intracellular Signaling Peptides and Proteins</term>
<term>Microfilament Proteins</term>
<term>Nuclear Proteins</term>
<term>TATA-Binding Protein Associated Factors</term>
<term>Transcription Factor TFIID</term>
<term>Ubiquitin-Protein Ligases</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Chloride Channels</term>
<term>RNA, Messenger</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Neurones</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mental Retardation, X-Linked</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Canaux chlorure</term>
<term>Facteur de transcription TFIID</term>
<term>Facteurs associés à la protéine de liaison à la boite TATA</term>
<term>Histone acetyltransferases</term>
<term>Kinases cyclines-dépendantes</term>
<term>Protéines adaptatrices de la transduction du signal</term>
<term>Protéines des microfilaments</term>
<term>Protéines et peptides de signalisation intracellulaire</term>
<term>Protéines nucléaires</term>
<term>Retard mental lié à l'X</term>
<term>Ubiquitin-protein ligases</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Neurons</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>ARN messager</term>
<term>Canaux chlorure</term>
<term>Neurones</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Neurons</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Animals</term>
<term>Cells, Cultured</term>
<term>Cohort Studies</term>
<term>Genetic Variation</term>
<term>High-Throughput Nucleotide Sequencing</term>
<term>Humans</term>
<term>Male</term>
<term>Mice, Knockout</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Animaux</term>
<term>Cellules cultivées</term>
<term>Humains</term>
<term>Mâle</term>
<term>Souris knockout</term>
<term>Séquençage nucléotidique à haut débit</term>
<term>Variation génétique</term>
<term>Études de cohortes</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>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 (<italic>CLCN4</italic>
, <italic>CNKSR2</italic>
, <italic>FRMPD4, KLHL15</italic>
, <italic>LAS1L</italic>
, <italic>RLIM</italic>
and <italic>USP27X</italic>
) and potentially deleterious variants in 2 novel candidate XLID genes (<italic>CDK16</italic>
and <italic>TAF1</italic>
). We show that the <italic>CLCN4</italic>
and <italic>CNKSR2</italic>
variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from <italic>Clcn4</italic>
<sup>−/−</sup>
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.</p>
</div>
</front>
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