De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Identifieur interne : 002087 ( PubMed/Checkpoint ); précédent : 002086; suivant : 002088De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Auteurs : Jung-Hyun Kim [États-Unis] ; Deepali N. Shinde [États-Unis] ; Margot R F. Reijnders [Pays-Bas] ; Natalie S. Hauser [États-Unis] ; Rebecca L. Belmonte [États-Unis] ; Gregory R. Wilson [États-Unis] ; Daniëlle G M. Bosch [Pays-Bas] ; Paula A. Bubulya [États-Unis] ; Vandana Shashi [États-Unis] ; Slavé Petrovski [États-Unis] ; Joshua K. Stone [États-Unis] ; Eun Young Park [États-Unis] ; Joris A. Veltman [Pays-Bas] ; Margje Sinnema [Pays-Bas] ; Connie T R M. Stumpel [Pays-Bas] ; Jos M. Draaisma [Pays-Bas] ; Joost Nicolai [Pays-Bas] ; Helger G. Yntema [Pays-Bas] ; Kristin Lindstrom [États-Unis] ; Bert B A. De Vries [Pays-Bas] ; Tamison Jewett [États-Unis] ; Stephanie L. Santoro [États-Unis] ; Julie Vogt [Royaume-Uni] ; Kristine K. Bachman [États-Unis] ; Andrea H. Seeley [États-Unis] ; Alyson Krokosky [États-Unis] ; Clesson Turner [États-Unis] ; Luis Rohena [États-Unis] ; Maja Hempel [Allemagne] ; Fanny Kortüm [Allemagne] ; Davor Lessel [Allemagne] ; Axel Neu [Allemagne] ; Tim M. Strom [Allemagne] ; Dagmar Wieczorek [Allemagne] ; Nuria Bramswig [Allemagne] ; Franco A. Laccone [Autriche] ; Jana Behunova [Autriche] ; Helga Rehder [Autriche] ; Christopher T. Gordon [France] ; Marlène Rio [France] ; Serge Romana [France] ; Sha Tang [États-Unis] ; Dima El-Khechen [États-Unis] ; Megan T. Cho [États-Unis] ; Kirsty Mcwalter [États-Unis] ; Ganka Douglas [États-Unis] ; Berivan Baskin [États-Unis] ; Amber Begtrup [États-Unis] ; Tara Funari [États-Unis] ; Kelly Schoch [États-Unis] ; Alexander P A. Stegmann [Pays-Bas] ; Servi J C. Stevens [Pays-Bas] ; Dong-Er Zhang [États-Unis] ; David Traver [États-Unis] ; Xu Yao [États-Unis] ; Daniel G. Macarthur [États-Unis] ; Han G. Brunner [Pays-Bas] ; Grazia M. Mancini [Pays-Bas] ; Richard M. Myers [États-Unis] ; Laurie B. Owen [États-Unis] ; Ssang-Taek Lim [États-Unis] ; David L. Stachura [États-Unis] ; Lisenka E L M. Vissers [Pays-Bas] ; Eun-Young Erin Ahn [États-Unis]Source :
- American journal of human genetics [ 1537-6605 ] ; 2016.
Descripteurs français
- KwdFr :
- ARN messager (analyse), Animaux, Antigènes mineurs d'histocompatibilité (analyse), Antigènes mineurs d'histocompatibilité (génétique), Antigènes mineurs d'histocompatibilité (métabolisme), Danio zébré (embryologie), Danio zébré (génétique), Danio zébré (malformations), Déficience intellectuelle (anatomopathologie), Déficience intellectuelle (génétique), Déficience intellectuelle (physiopathologie), Encéphale (anatomopathologie), Encéphale (embryologie), Encéphale (malformations), Encéphale (métabolisme), Femelle, Gènes essentiels (génétique), Haploinsuffisance (génétique), Humains, Hétérozygote, Incapacités de développement (anatomopathologie), Incapacités de développement (génétique), Incapacités de développement (physiopathologie), Maladies métaboliques (génétique), Maladies métaboliques (métabolisme), Malformations oculaires (génétique), Mutation (génétique), Mâle, Pedigree, Protéines de liaison à l'ADN (analyse), Protéines de liaison à l'ADN (génétique), Protéines de liaison à l'ADN (métabolisme), Rachis (malformations), Syndrome, Tête (malformations), Épissage des ARN (génétique).
- MESH :
- analyse : ARN messager, Antigènes mineurs d'histocompatibilité, Protéines de liaison à l'ADN.
- anatomopathologie : Déficience intellectuelle, Encéphale, Incapacités de développement.
- embryologie : Danio zébré, Encéphale.
- génétique : Antigènes mineurs d'histocompatibilité, Danio zébré, Déficience intellectuelle, Gènes essentiels, Haploinsuffisance, Incapacités de développement, Maladies métaboliques, Malformations oculaires, Mutation, Protéines de liaison à l'ADN, Épissage des ARN.
- malformations : Danio zébré, Encéphale, Rachis, Tête.
- métabolisme : Antigènes mineurs d'histocompatibilité, Encéphale, Maladies métaboliques, Protéines de liaison à l'ADN.
- physiopathologie : Déficience intellectuelle, Incapacités de développement.
- Animaux, Femelle, Humains, Hétérozygote, Mâle, Pedigree, Syndrome.
English descriptors
- KwdEn :
- Animals, Brain (abnormalities), Brain (embryology), Brain (metabolism), Brain (pathology), DNA-Binding Proteins (analysis), DNA-Binding Proteins (genetics), DNA-Binding Proteins (metabolism), Developmental Disabilities (genetics), Developmental Disabilities (pathology), Developmental Disabilities (physiopathology), Eye Abnormalities (genetics), Female, Genes, Essential (genetics), Haploinsufficiency (genetics), Head (abnormalities), Heterozygote, Humans, Intellectual Disability (genetics), Intellectual Disability (pathology), Intellectual Disability (physiopathology), Male, Metabolic Diseases (genetics), Metabolic Diseases (metabolism), Minor Histocompatibility Antigens (analysis), Minor Histocompatibility Antigens (genetics), Minor Histocompatibility Antigens (metabolism), Mutation (genetics), Pedigree, RNA Splicing (genetics), RNA, Messenger (analysis), Spine (abnormalities), Syndrome, Zebrafish (abnormalities), Zebrafish (embryology), Zebrafish (genetics).
- MESH :
- chemical , analysis : DNA-Binding Proteins, Minor Histocompatibility Antigens, RNA, Messenger.
- abnormalities : Brain, Head, Spine, Zebrafish.
- embryology : Brain, Zebrafish.
- chemical , genetics : DNA-Binding Proteins, Developmental Disabilities, Eye Abnormalities, Genes, Essential, Haploinsufficiency, Intellectual Disability, Metabolic Diseases, Minor Histocompatibility Antigens, Mutation, RNA Splicing, Zebrafish.
- metabolism : Brain, DNA-Binding Proteins, Metabolic Diseases, Minor Histocompatibility Antigens.
- pathology : Brain, Developmental Disabilities, Intellectual Disability.
- physiopathology : Developmental Disabilities, Intellectual Disability.
- Animals, Female, Heterozygote, Humans, Male, Pedigree, Syndrome.
Abstract
The overall understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD) is increasing as next-generation sequencing technologies identify genetic variants in individuals with such disorders. However, detailed analyses conclusively confirming these variants, as well as the underlying molecular mechanisms explaining the diseases, are often lacking. Here, we report on an ID syndrome caused by de novo heterozygous loss-of-function (LoF) mutations in SON. The syndrome is characterized by ID and/or DD, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal abnormalities, and congenital malformations. Knockdown of son in zebrafish resulted in severe malformation of the spine, brain, and eyes. Importantly, analyses of RNA from affected individuals revealed that genes critical for neuronal migration and cortex organization (TUBG1, FLNA, PNKP, WDR62, PSMD3, and HDAC6) and metabolism (PCK2, PFKL, IDH2, ACY1, and ADA) are significantly downregulated because of the accumulation of mis-spliced transcripts resulting from erroneous SON-mediated RNA splicing. Our data highlight SON as a master regulator governing neurodevelopment and demonstrate the importance of SON-mediated RNA splicing in human development.
DOI: 10.1016/j.ajhg.2016.06.029
PubMed: 27545680
Affiliations:
- Allemagne, Autriche, France, Pays-Bas, Royaume-Uni, États-Unis
- Alabama, Arizona, Bavière, Californie, Caroline du Nord, District de Haute-Bavière, Hambourg, Maryland, Massachusetts, Ohio, Pennsylvanie, Texas, Vienne (Autriche), État de New York, Île-de-France
- Hambourg, Melbourne, Munich, Paris, Vienne (Autriche)
- Université Louis-et-Maximilien de Munich, Université Paris-Descartes, Université de Melbourne
Links toward previous steps (curation, corpus...)
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pubmed:27545680Le document en format XML
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Bosch</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Bubulya, Paula A" sort="Bubulya, Paula A" uniqKey="Bubulya P" first="Paula A" last="Bubulya">Paula A. Bubulya</name><affiliation wicri:level="2"><nlm:affiliation>Department of Biological Sciences, Wright State University, Dayton, OH 45435, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biological Sciences, Wright State University, Dayton, OH 45435</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Shashi, Vandana" sort="Shashi, Vandana" uniqKey="Shashi V" first="Vandana" last="Shashi">Vandana Shashi</name><affiliation wicri:level="2"><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Petrovski, Slave" sort="Petrovski, Slave" uniqKey="Petrovski S" first="Slavé" last="Petrovski">Slavé Petrovski</name><affiliation wicri:level="4"><nlm:affiliation>Department of Medicine, University of Melbourne, Austin Hospital and Royal Melbourne Hospital, Parkville, VIC 3010, Australia; Institute for Genomic Medicine, Columbia University, New York, NY 10027, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, University of Melbourne, Austin Hospital and Royal Melbourne Hospital, Parkville, VIC 3010, Australia; Institute for Genomic Medicine, Columbia University, New York, NY 10027</wicri:regionArea><placeName><region type="state">État de New York</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author><author><name sortKey="Stone, Joshua K" sort="Stone, Joshua K" uniqKey="Stone J" first="Joshua K" last="Stone">Joshua K. Stone</name><affiliation wicri:level="2"><nlm:affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604</wicri:regionArea><placeName><region type="state">Alabama</region></placeName></affiliation></author><author><name sortKey="Park, Eun Young" sort="Park, Eun Young" uniqKey="Park E" first="Eun Young" last="Park">Eun Young Park</name><affiliation wicri:level="2"><nlm:affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604</wicri:regionArea><placeName><region type="state">Alabama</region></placeName></affiliation></author><author><name sortKey="Veltman, Joris A" sort="Veltman, Joris A" uniqKey="Veltman J" first="Joris A" last="Veltman">Joris A. Veltman</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht</wicri:regionArea><wicri:noRegion>6202 AZ Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Sinnema, Margje" sort="Sinnema, Margje" uniqKey="Sinnema M" first="Margje" last="Sinnema">Margje Sinnema</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht</wicri:regionArea><wicri:noRegion>6202 AZ Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Stumpel, Connie T R M" sort="Stumpel, Connie T R M" uniqKey="Stumpel C" first="Connie T R M" last="Stumpel">Connie T R M. Stumpel</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht</wicri:regionArea><wicri:noRegion>6202 AZ Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Draaisma, Jos M" sort="Draaisma, Jos M" uniqKey="Draaisma J" first="Jos M" last="Draaisma">Jos M. Draaisma</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Radboudumc Amalia Children's Hospital, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Pediatrics, Radboudumc Amalia Children's Hospital, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Nicolai, Joost" sort="Nicolai, Joost" uniqKey="Nicolai J" first="Joost" last="Nicolai">Joost Nicolai</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Maastricht University Medical Center, 6299 HX Maastricht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology, Maastricht University Medical Center, 6299 HX Maastricht</wicri:regionArea><wicri:noRegion>6299 HX Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Yntema, Helger G" sort="Yntema, Helger G" uniqKey="Yntema H" first="Helger G" last="Yntema">Helger G. Yntema</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Lindstrom, Kristin" sort="Lindstrom, Kristin" uniqKey="Lindstrom K" first="Kristin" last="Lindstrom">Kristin Lindstrom</name><affiliation wicri:level="2"><nlm:affiliation>Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016</wicri:regionArea><placeName><region type="state">Arizona</region></placeName></affiliation></author><author><name sortKey="De Vries, Bert B A" sort="De Vries, Bert B A" uniqKey="De Vries B" first="Bert B A" last="De Vries">Bert B A. De Vries</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Jewett, Tamison" sort="Jewett, Tamison" uniqKey="Jewett T" first="Tamison" last="Jewett">Tamison Jewett</name><affiliation wicri:level="2"><nlm:affiliation>Section on Medical Genetics, Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section on Medical Genetics, Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC 27157</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Santoro, Stephanie L" sort="Santoro, Stephanie L" uniqKey="Santoro S" first="Stephanie L" last="Santoro">Stephanie L. Santoro</name><affiliation wicri:level="2"><nlm:affiliation>Nationwide Children's Hospital, Columbus, OH 43205, USA; Ohio State University College of Medicine, Columbus, OH 43210, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Nationwide Children's Hospital, Columbus, OH 43205, USA; Ohio State University College of Medicine, Columbus, OH 43210</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name><affiliation wicri:level="1"><nlm:affiliation>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham B15 2TG, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham B15 2TG</wicri:regionArea><wicri:noRegion>Birmingham B15 2TG</wicri:noRegion></affiliation></author><author><name sortKey="Bachman, Kristine K" sort="Bachman, Kristine K" uniqKey="Bachman K" first="Kristine K" last="Bachman">Kristine K. Bachman</name><affiliation wicri:level="2"><nlm:affiliation>Geisinger Medical Center, Danville, PA 17822, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Geisinger Medical Center, Danville, PA 17822</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Seeley, Andrea H" sort="Seeley, Andrea H" uniqKey="Seeley A" first="Andrea H" last="Seeley">Andrea H. Seeley</name><affiliation wicri:level="2"><nlm:affiliation>Geisinger Medical Center, Danville, PA 17822, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Geisinger Medical Center, Danville, PA 17822</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Krokosky, Alyson" sort="Krokosky, Alyson" uniqKey="Krokosky A" first="Alyson" last="Krokosky">Alyson Krokosky</name><affiliation wicri:level="2"><nlm:affiliation>Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Turner, Clesson" sort="Turner, Clesson" uniqKey="Turner C" first="Clesson" last="Turner">Clesson Turner</name><affiliation wicri:level="2"><nlm:affiliation>Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Rohena, Luis" sort="Rohena, Luis" uniqKey="Rohena L" first="Luis" last="Rohena">Luis Rohena</name><affiliation wicri:level="2"><nlm:affiliation>Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, Fort Sam Houston, TX 78234, USA; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, Fort Sam Houston, TX 78234, USA; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Hempel, Maja" sort="Hempel, Maja" uniqKey="Hempel M" first="Maja" last="Hempel">Maja Hempel</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg</wicri:regionArea><wicri:noRegion>20246 Hamburg</wicri:noRegion><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author><author><name sortKey="Kortum, Fanny" sort="Kortum, Fanny" uniqKey="Kortum F" first="Fanny" last="Kortüm">Fanny Kortüm</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg</wicri:regionArea><wicri:noRegion>20246 Hamburg</wicri:noRegion><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author><author><name sortKey="Lessel, Davor" sort="Lessel, Davor" uniqKey="Lessel D" first="Davor" last="Lessel">Davor Lessel</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg</wicri:regionArea><wicri:noRegion>20246 Hamburg</wicri:noRegion><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author><author><name sortKey="Neu, Axel" sort="Neu, Axel" uniqKey="Neu A" first="Axel" last="Neu">Axel Neu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg</wicri:regionArea><wicri:noRegion>20246 Hamburg</wicri:noRegion><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author><author><name sortKey="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M" last="Strom">Tim M. Strom</name><affiliation wicri:level="4"><nlm:affiliation>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University of Munich, 81675 Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement><settlement type="city">Munich</settlement></placeName><orgName type="university">Université Louis-et-Maximilien de Munich</orgName></affiliation></author><author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University Clinic Düsseldorf, Heinrich-Heine-University, 40225 Düsseldorf, Germany; Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Clinic Düsseldorf, Heinrich-Heine-University, 40225 Düsseldorf, Germany; Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen</wicri:regionArea><wicri:noRegion>45147 Essen</wicri:noRegion><wicri:noRegion>45147 Essen</wicri:noRegion><wicri:noRegion>45147 Essen</wicri:noRegion></affiliation></author><author><name sortKey="Bramswig, Nuria" sort="Bramswig, Nuria" uniqKey="Bramswig N" first="Nuria" last="Bramswig">Nuria Bramswig</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen</wicri:regionArea><wicri:noRegion>45147 Essen</wicri:noRegion><wicri:noRegion>45147 Essen</wicri:noRegion><wicri:noRegion>45147 Essen</wicri:noRegion></affiliation></author><author><name sortKey="Laccone, Franco A" sort="Laccone, Franco A" uniqKey="Laccone F" first="Franco A" last="Laccone">Franco A. Laccone</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna</wicri:regionArea><placeName><region type="land" nuts="2">Vienne (Autriche)</region><settlement type="city">Vienne (Autriche)</settlement></placeName></affiliation></author><author><name sortKey="Behunova, Jana" sort="Behunova, Jana" uniqKey="Behunova J" first="Jana" last="Behunova">Jana Behunova</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna</wicri:regionArea><placeName><region type="land" nuts="2">Vienne (Autriche)</region><settlement type="city">Vienne (Autriche)</settlement></placeName></affiliation></author><author><name sortKey="Rehder, Helga" sort="Rehder, Helga" uniqKey="Rehder H" first="Helga" last="Rehder">Helga Rehder</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna</wicri:regionArea><placeName><region type="land" nuts="2">Vienne (Autriche)</region><settlement type="city">Vienne (Autriche)</settlement></placeName></affiliation></author><author><name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T" last="Gordon">Christopher T. Gordon</name><affiliation wicri:level="4"><nlm:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Rio, Marlene" sort="Rio, Marlene" uniqKey="Rio M" first="Marlène" last="Rio">Marlène Rio</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Romana, Serge" sort="Romana, Serge" uniqKey="Romana S" first="Serge" last="Romana">Serge Romana</name><affiliation wicri:level="1"><nlm:affiliation>Service de Cytogénétique, Hôpital Necker-Enfants Malades, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Cytogénétique, Hôpital Necker-Enfants Malades, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Tang, Sha" sort="Tang, Sha" uniqKey="Tang S" first="Sha" last="Tang">Sha Tang</name><affiliation wicri:level="2"><nlm:affiliation>Ambry Genetics, Aliso Viejo, CA 92656, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Ambry Genetics, Aliso Viejo, CA 92656</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="El Khechen, Dima" sort="El Khechen, Dima" uniqKey="El Khechen D" first="Dima" last="El-Khechen">Dima El-Khechen</name><affiliation wicri:level="2"><nlm:affiliation>Ambry Genetics, Aliso Viejo, CA 92656, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Ambry Genetics, Aliso Viejo, CA 92656</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Cho, Megan T" sort="Cho, Megan T" uniqKey="Cho M" first="Megan T" last="Cho">Megan T. Cho</name><affiliation wicri:level="2"><nlm:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Mcwalter, Kirsty" sort="Mcwalter, Kirsty" uniqKey="Mcwalter K" first="Kirsty" last="Mcwalter">Kirsty Mcwalter</name><affiliation wicri:level="2"><nlm:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Douglas, Ganka" sort="Douglas, Ganka" uniqKey="Douglas G" first="Ganka" last="Douglas">Ganka Douglas</name><affiliation wicri:level="2"><nlm:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Baskin, Berivan" sort="Baskin, Berivan" uniqKey="Baskin B" first="Berivan" last="Baskin">Berivan Baskin</name><affiliation wicri:level="2"><nlm:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Begtrup, Amber" sort="Begtrup, Amber" uniqKey="Begtrup A" first="Amber" last="Begtrup">Amber Begtrup</name><affiliation wicri:level="2"><nlm:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Funari, Tara" sort="Funari, Tara" uniqKey="Funari T" first="Tara" last="Funari">Tara Funari</name><affiliation wicri:level="2"><nlm:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Schoch, Kelly" sort="Schoch, Kelly" uniqKey="Schoch K" first="Kelly" last="Schoch">Kelly Schoch</name><affiliation wicri:level="2"><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Stegmann, Alexander P A" sort="Stegmann, Alexander P A" uniqKey="Stegmann A" first="Alexander P A" last="Stegmann">Alexander P A. Stegmann</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht</wicri:regionArea><wicri:noRegion>6202 AZ Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Stevens, Servi J C" sort="Stevens, Servi J C" uniqKey="Stevens S" first="Servi J C" last="Stevens">Servi J C. Stevens</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht</wicri:regionArea><wicri:noRegion>6202 AZ Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Zhang, Dong Er" sort="Zhang, Dong Er" uniqKey="Zhang D" first="Dong-Er" last="Zhang">Dong-Er Zhang</name><affiliation wicri:level="2"><nlm:affiliation>Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA; Department of Pathology, University of California, San Diego, La Jolla, CA 92093, USA; Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA; Department of Pathology, University of California, San Diego, La Jolla, CA 92093, USA; Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Traver, David" sort="Traver, David" uniqKey="Traver D" first="David" last="Traver">David Traver</name><affiliation wicri:level="2"><nlm:affiliation>Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Yao, Xu" sort="Yao, Xu" uniqKey="Yao X" first="Xu" last="Yao">Xu Yao</name><affiliation wicri:level="2"><nlm:affiliation>Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Macarthur, Daniel G" sort="Macarthur, Daniel G" uniqKey="Macarthur D" first="Daniel G" last="Macarthur">Daniel G. Macarthur</name><affiliation wicri:level="2"><nlm:affiliation>Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Brunner, Han G" sort="Brunner, Han G" uniqKey="Brunner H" first="Han G" last="Brunner">Han G. Brunner</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht</wicri:regionArea><wicri:noRegion>6202 AZ Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Mancini, Grazia M" sort="Mancini, Grazia M" uniqKey="Mancini G" first="Grazia M" last="Mancini">Grazia M. Mancini</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam</wicri:regionArea><wicri:noRegion>3015 CN Rotterdam</wicri:noRegion></affiliation></author><author><name sortKey="Myers, Richard M" sort="Myers, Richard M" uniqKey="Myers R" first="Richard M" last="Myers">Richard M. Myers</name><affiliation wicri:level="2"><nlm:affiliation>HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806</wicri:regionArea><placeName><region type="state">Alabama</region></placeName></affiliation></author><author><name sortKey="Owen, Laurie B" sort="Owen, Laurie B" uniqKey="Owen L" first="Laurie B" last="Owen">Laurie B. Owen</name><affiliation wicri:level="2"><nlm:affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604</wicri:regionArea><placeName><region type="state">Alabama</region></placeName></affiliation></author><author><name sortKey="Lim, Ssang Taek" sort="Lim, Ssang Taek" uniqKey="Lim S" first="Ssang-Taek" last="Lim">Ssang-Taek Lim</name><affiliation wicri:level="2"><nlm:affiliation>Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688</wicri:regionArea><placeName><region type="state">Alabama</region></placeName></affiliation></author><author><name sortKey="Stachura, David L" sort="Stachura, David L" uniqKey="Stachura D" first="David L" last="Stachura">David L. Stachura</name><affiliation wicri:level="2"><nlm:affiliation>Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biological Sciences, California State University, Chico, Chico, CA 95929</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Vissers, Lisenka E L M" sort="Vissers, Lisenka E L M" uniqKey="Vissers L" first="Lisenka E L M" last="Vissers">Lisenka E L M. Vissers</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: lisenka.vissers@radboudumc.nl.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Ahn, Eun Young Erin" sort="Ahn, Eun Young Erin" uniqKey="Ahn E" first="Eun-Young Erin" last="Ahn">Eun-Young Erin Ahn</name><affiliation wicri:level="2"><nlm:affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address: eahn@health.southalabama.edu.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688</wicri:regionArea><placeName><region type="state">Alabama</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27545680</idno><idno type="pmid">27545680</idno><idno type="doi">10.1016/j.ajhg.2016.06.029</idno><idno type="wicri:Area/PubMed/Corpus">001959</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001959</idno><idno type="wicri:Area/PubMed/Curation">001935</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001935</idno><idno type="wicri:Area/PubMed/Checkpoint">001935</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001935</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.</title><author><name sortKey="Kim, Jung Hyun" sort="Kim, Jung Hyun" uniqKey="Kim J" first="Jung-Hyun" last="Kim">Jung-Hyun Kim</name><affiliation wicri:level="2"><nlm:affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604</wicri:regionArea><placeName><region type="state">Alabama</region></placeName></affiliation></author><author><name sortKey="Shinde, Deepali N" sort="Shinde, Deepali N" uniqKey="Shinde D" first="Deepali N" last="Shinde">Deepali N. Shinde</name><affiliation wicri:level="2"><nlm:affiliation>Ambry Genetics, Aliso Viejo, CA 92656, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Ambry Genetics, Aliso Viejo, CA 92656</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Reijnders, Margot R F" sort="Reijnders, Margot R F" uniqKey="Reijnders M" first="Margot R F" last="Reijnders">Margot R F. Reijnders</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Hauser, Natalie S" sort="Hauser, Natalie S" uniqKey="Hauser N" first="Natalie S" last="Hauser">Natalie S. Hauser</name><affiliation wicri:level="2"><nlm:affiliation>Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA 93636, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA 93636</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Belmonte, Rebecca L" sort="Belmonte, Rebecca L" uniqKey="Belmonte R" first="Rebecca L" last="Belmonte">Rebecca L. Belmonte</name><affiliation wicri:level="2"><nlm:affiliation>Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biological Sciences, California State University, Chico, Chico, CA 95929</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Wilson, Gregory R" sort="Wilson, Gregory R" uniqKey="Wilson G" first="Gregory R" last="Wilson">Gregory R. Wilson</name><affiliation wicri:level="2"><nlm:affiliation>Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biological Sciences, California State University, Chico, Chico, CA 95929</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Bosch, Danielle G M" sort="Bosch, Danielle G M" uniqKey="Bosch D" first="Daniëlle G M" last="Bosch">Daniëlle G M. Bosch</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Bubulya, Paula A" sort="Bubulya, Paula A" uniqKey="Bubulya P" first="Paula A" last="Bubulya">Paula A. Bubulya</name><affiliation wicri:level="2"><nlm:affiliation>Department of Biological Sciences, Wright State University, Dayton, OH 45435, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biological Sciences, Wright State University, Dayton, OH 45435</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Shashi, Vandana" sort="Shashi, Vandana" uniqKey="Shashi V" first="Vandana" last="Shashi">Vandana Shashi</name><affiliation wicri:level="2"><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Petrovski, Slave" sort="Petrovski, Slave" uniqKey="Petrovski S" first="Slavé" last="Petrovski">Slavé Petrovski</name><affiliation wicri:level="4"><nlm:affiliation>Department of Medicine, University of Melbourne, Austin Hospital and Royal Melbourne Hospital, Parkville, VIC 3010, Australia; Institute for Genomic Medicine, Columbia University, New York, NY 10027, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, University of Melbourne, Austin Hospital and Royal Melbourne Hospital, Parkville, VIC 3010, Australia; Institute for Genomic Medicine, Columbia University, New York, NY 10027</wicri:regionArea><placeName><region type="state">État de New York</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author><author><name sortKey="Stone, Joshua K" sort="Stone, Joshua K" uniqKey="Stone J" first="Joshua K" last="Stone">Joshua K. Stone</name><affiliation wicri:level="2"><nlm:affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604</wicri:regionArea><placeName><region type="state">Alabama</region></placeName></affiliation></author><author><name sortKey="Park, Eun Young" sort="Park, Eun Young" uniqKey="Park E" first="Eun Young" last="Park">Eun Young Park</name><affiliation wicri:level="2"><nlm:affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604</wicri:regionArea><placeName><region type="state">Alabama</region></placeName></affiliation></author><author><name sortKey="Veltman, Joris A" sort="Veltman, Joris A" uniqKey="Veltman J" first="Joris A" last="Veltman">Joris A. Veltman</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht</wicri:regionArea><wicri:noRegion>6202 AZ Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Sinnema, Margje" sort="Sinnema, Margje" uniqKey="Sinnema M" first="Margje" last="Sinnema">Margje Sinnema</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht</wicri:regionArea><wicri:noRegion>6202 AZ Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Stumpel, Connie T R M" sort="Stumpel, Connie T R M" uniqKey="Stumpel C" first="Connie T R M" last="Stumpel">Connie T R M. Stumpel</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht</wicri:regionArea><wicri:noRegion>6202 AZ Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Draaisma, Jos M" sort="Draaisma, Jos M" uniqKey="Draaisma J" first="Jos M" last="Draaisma">Jos M. Draaisma</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Radboudumc Amalia Children's Hospital, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Pediatrics, Radboudumc Amalia Children's Hospital, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Nicolai, Joost" sort="Nicolai, Joost" uniqKey="Nicolai J" first="Joost" last="Nicolai">Joost Nicolai</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Maastricht University Medical Center, 6299 HX Maastricht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology, Maastricht University Medical Center, 6299 HX Maastricht</wicri:regionArea><wicri:noRegion>6299 HX Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Yntema, Helger G" sort="Yntema, Helger G" uniqKey="Yntema H" first="Helger G" last="Yntema">Helger G. Yntema</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Lindstrom, Kristin" sort="Lindstrom, Kristin" uniqKey="Lindstrom K" first="Kristin" last="Lindstrom">Kristin Lindstrom</name><affiliation wicri:level="2"><nlm:affiliation>Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016</wicri:regionArea><placeName><region type="state">Arizona</region></placeName></affiliation></author><author><name sortKey="De Vries, Bert B A" sort="De Vries, Bert B A" uniqKey="De Vries B" first="Bert B A" last="De Vries">Bert B A. De Vries</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Jewett, Tamison" sort="Jewett, Tamison" uniqKey="Jewett T" first="Tamison" last="Jewett">Tamison Jewett</name><affiliation wicri:level="2"><nlm:affiliation>Section on Medical Genetics, Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section on Medical Genetics, Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC 27157</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Santoro, Stephanie L" sort="Santoro, Stephanie L" uniqKey="Santoro S" first="Stephanie L" last="Santoro">Stephanie L. Santoro</name><affiliation wicri:level="2"><nlm:affiliation>Nationwide Children's Hospital, Columbus, OH 43205, USA; Ohio State University College of Medicine, Columbus, OH 43210, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Nationwide Children's Hospital, Columbus, OH 43205, USA; Ohio State University College of Medicine, Columbus, OH 43210</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name><affiliation wicri:level="1"><nlm:affiliation>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham B15 2TG, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham B15 2TG</wicri:regionArea><wicri:noRegion>Birmingham B15 2TG</wicri:noRegion></affiliation></author><author><name sortKey="Bachman, Kristine K" sort="Bachman, Kristine K" uniqKey="Bachman K" first="Kristine K" last="Bachman">Kristine K. Bachman</name><affiliation wicri:level="2"><nlm:affiliation>Geisinger Medical Center, Danville, PA 17822, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Geisinger Medical Center, Danville, PA 17822</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Seeley, Andrea H" sort="Seeley, Andrea H" uniqKey="Seeley A" first="Andrea H" last="Seeley">Andrea H. Seeley</name><affiliation wicri:level="2"><nlm:affiliation>Geisinger Medical Center, Danville, PA 17822, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Geisinger Medical Center, Danville, PA 17822</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Krokosky, Alyson" sort="Krokosky, Alyson" uniqKey="Krokosky A" first="Alyson" last="Krokosky">Alyson Krokosky</name><affiliation wicri:level="2"><nlm:affiliation>Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Turner, Clesson" sort="Turner, Clesson" uniqKey="Turner C" first="Clesson" last="Turner">Clesson Turner</name><affiliation wicri:level="2"><nlm:affiliation>Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Rohena, Luis" sort="Rohena, Luis" uniqKey="Rohena L" first="Luis" last="Rohena">Luis Rohena</name><affiliation wicri:level="2"><nlm:affiliation>Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, Fort Sam Houston, TX 78234, USA; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, Fort Sam Houston, TX 78234, USA; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Hempel, Maja" sort="Hempel, Maja" uniqKey="Hempel M" first="Maja" last="Hempel">Maja Hempel</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg</wicri:regionArea><wicri:noRegion>20246 Hamburg</wicri:noRegion><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author><author><name sortKey="Kortum, Fanny" sort="Kortum, Fanny" uniqKey="Kortum F" first="Fanny" last="Kortüm">Fanny Kortüm</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg</wicri:regionArea><wicri:noRegion>20246 Hamburg</wicri:noRegion><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author><author><name sortKey="Lessel, Davor" sort="Lessel, Davor" uniqKey="Lessel D" first="Davor" last="Lessel">Davor Lessel</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg</wicri:regionArea><wicri:noRegion>20246 Hamburg</wicri:noRegion><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author><author><name sortKey="Neu, Axel" sort="Neu, Axel" uniqKey="Neu A" first="Axel" last="Neu">Axel Neu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg</wicri:regionArea><wicri:noRegion>20246 Hamburg</wicri:noRegion><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author><author><name sortKey="Strom, Tim M" sort="Strom, Tim M" uniqKey="Strom T" first="Tim M" last="Strom">Tim M. Strom</name><affiliation wicri:level="4"><nlm:affiliation>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University of Munich, 81675 Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement><settlement type="city">Munich</settlement></placeName><orgName type="university">Université Louis-et-Maximilien de Munich</orgName></affiliation></author><author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University Clinic Düsseldorf, Heinrich-Heine-University, 40225 Düsseldorf, Germany; Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Clinic Düsseldorf, Heinrich-Heine-University, 40225 Düsseldorf, Germany; Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen</wicri:regionArea><wicri:noRegion>45147 Essen</wicri:noRegion><wicri:noRegion>45147 Essen</wicri:noRegion><wicri:noRegion>45147 Essen</wicri:noRegion></affiliation></author><author><name sortKey="Bramswig, Nuria" sort="Bramswig, Nuria" uniqKey="Bramswig N" first="Nuria" last="Bramswig">Nuria Bramswig</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen</wicri:regionArea><wicri:noRegion>45147 Essen</wicri:noRegion><wicri:noRegion>45147 Essen</wicri:noRegion><wicri:noRegion>45147 Essen</wicri:noRegion></affiliation></author><author><name sortKey="Laccone, Franco A" sort="Laccone, Franco A" uniqKey="Laccone F" first="Franco A" last="Laccone">Franco A. Laccone</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna</wicri:regionArea><placeName><region type="land" nuts="2">Vienne (Autriche)</region><settlement type="city">Vienne (Autriche)</settlement></placeName></affiliation></author><author><name sortKey="Behunova, Jana" sort="Behunova, Jana" uniqKey="Behunova J" first="Jana" last="Behunova">Jana Behunova</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna</wicri:regionArea><placeName><region type="land" nuts="2">Vienne (Autriche)</region><settlement type="city">Vienne (Autriche)</settlement></placeName></affiliation></author><author><name sortKey="Rehder, Helga" sort="Rehder, Helga" uniqKey="Rehder H" first="Helga" last="Rehder">Helga Rehder</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna</wicri:regionArea><placeName><region type="land" nuts="2">Vienne (Autriche)</region><settlement type="city">Vienne (Autriche)</settlement></placeName></affiliation></author><author><name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T" last="Gordon">Christopher T. Gordon</name><affiliation wicri:level="4"><nlm:affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Rio, Marlene" sort="Rio, Marlene" uniqKey="Rio M" first="Marlène" last="Rio">Marlène Rio</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Romana, Serge" sort="Romana, Serge" uniqKey="Romana S" first="Serge" last="Romana">Serge Romana</name><affiliation wicri:level="1"><nlm:affiliation>Service de Cytogénétique, Hôpital Necker-Enfants Malades, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Cytogénétique, Hôpital Necker-Enfants Malades, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Tang, Sha" sort="Tang, Sha" uniqKey="Tang S" first="Sha" last="Tang">Sha Tang</name><affiliation wicri:level="2"><nlm:affiliation>Ambry Genetics, Aliso Viejo, CA 92656, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Ambry Genetics, Aliso Viejo, CA 92656</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="El Khechen, Dima" sort="El Khechen, Dima" uniqKey="El Khechen D" first="Dima" last="El-Khechen">Dima El-Khechen</name><affiliation wicri:level="2"><nlm:affiliation>Ambry Genetics, Aliso Viejo, CA 92656, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Ambry Genetics, Aliso Viejo, CA 92656</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Cho, Megan T" sort="Cho, Megan T" uniqKey="Cho M" first="Megan T" last="Cho">Megan T. Cho</name><affiliation wicri:level="2"><nlm:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Mcwalter, Kirsty" sort="Mcwalter, Kirsty" uniqKey="Mcwalter K" first="Kirsty" last="Mcwalter">Kirsty Mcwalter</name><affiliation wicri:level="2"><nlm:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Douglas, Ganka" sort="Douglas, Ganka" uniqKey="Douglas G" first="Ganka" last="Douglas">Ganka Douglas</name><affiliation wicri:level="2"><nlm:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Baskin, Berivan" sort="Baskin, Berivan" uniqKey="Baskin B" first="Berivan" last="Baskin">Berivan Baskin</name><affiliation wicri:level="2"><nlm:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Begtrup, Amber" sort="Begtrup, Amber" uniqKey="Begtrup A" first="Amber" last="Begtrup">Amber Begtrup</name><affiliation wicri:level="2"><nlm:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Funari, Tara" sort="Funari, Tara" uniqKey="Funari T" first="Tara" last="Funari">Tara Funari</name><affiliation wicri:level="2"><nlm:affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Schoch, Kelly" sort="Schoch, Kelly" uniqKey="Schoch K" first="Kelly" last="Schoch">Kelly Schoch</name><affiliation wicri:level="2"><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Stegmann, Alexander P A" sort="Stegmann, Alexander P A" uniqKey="Stegmann A" first="Alexander P A" last="Stegmann">Alexander P A. Stegmann</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht</wicri:regionArea><wicri:noRegion>6202 AZ Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Stevens, Servi J C" sort="Stevens, Servi J C" uniqKey="Stevens S" first="Servi J C" last="Stevens">Servi J C. Stevens</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht</wicri:regionArea><wicri:noRegion>6202 AZ Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Zhang, Dong Er" sort="Zhang, Dong Er" uniqKey="Zhang D" first="Dong-Er" last="Zhang">Dong-Er Zhang</name><affiliation wicri:level="2"><nlm:affiliation>Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA; Department of Pathology, University of California, San Diego, La Jolla, CA 92093, USA; Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA; Department of Pathology, University of California, San Diego, La Jolla, CA 92093, USA; Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Traver, David" sort="Traver, David" uniqKey="Traver D" first="David" last="Traver">David Traver</name><affiliation wicri:level="2"><nlm:affiliation>Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Yao, Xu" sort="Yao, Xu" uniqKey="Yao X" first="Xu" last="Yao">Xu Yao</name><affiliation wicri:level="2"><nlm:affiliation>Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Macarthur, Daniel G" sort="Macarthur, Daniel G" uniqKey="Macarthur D" first="Daniel G" last="Macarthur">Daniel G. Macarthur</name><affiliation wicri:level="2"><nlm:affiliation>Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Brunner, Han G" sort="Brunner, Han G" uniqKey="Brunner H" first="Han G" last="Brunner">Han G. Brunner</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht</wicri:regionArea><wicri:noRegion>6202 AZ Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Mancini, Grazia M" sort="Mancini, Grazia M" uniqKey="Mancini G" first="Grazia M" last="Mancini">Grazia M. Mancini</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam</wicri:regionArea><wicri:noRegion>3015 CN Rotterdam</wicri:noRegion></affiliation></author><author><name sortKey="Myers, Richard M" sort="Myers, Richard M" uniqKey="Myers R" first="Richard M" last="Myers">Richard M. Myers</name><affiliation wicri:level="2"><nlm:affiliation>HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806</wicri:regionArea><placeName><region type="state">Alabama</region></placeName></affiliation></author><author><name sortKey="Owen, Laurie B" sort="Owen, Laurie B" uniqKey="Owen L" first="Laurie B" last="Owen">Laurie B. Owen</name><affiliation wicri:level="2"><nlm:affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604</wicri:regionArea><placeName><region type="state">Alabama</region></placeName></affiliation></author><author><name sortKey="Lim, Ssang Taek" sort="Lim, Ssang Taek" uniqKey="Lim S" first="Ssang-Taek" last="Lim">Ssang-Taek Lim</name><affiliation wicri:level="2"><nlm:affiliation>Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688</wicri:regionArea><placeName><region type="state">Alabama</region></placeName></affiliation></author><author><name sortKey="Stachura, David L" sort="Stachura, David L" uniqKey="Stachura D" first="David L" last="Stachura">David L. Stachura</name><affiliation wicri:level="2"><nlm:affiliation>Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biological Sciences, California State University, Chico, Chico, CA 95929</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Vissers, Lisenka E L M" sort="Vissers, Lisenka E L M" uniqKey="Vissers L" first="Lisenka E L M" last="Vissers">Lisenka E L M. Vissers</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: lisenka.vissers@radboudumc.nl.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Ahn, Eun Young Erin" sort="Ahn, Eun Young Erin" uniqKey="Ahn E" first="Eun-Young Erin" last="Ahn">Eun-Young Erin Ahn</name><affiliation wicri:level="2"><nlm:affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address: eahn@health.southalabama.edu.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688</wicri:regionArea><placeName><region type="state">Alabama</region></placeName></affiliation></author></analytic><series><title level="j">American journal of human genetics</title><idno type="eISSN">1537-6605</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Animals</term><term>Brain (abnormalities)</term><term>Brain (embryology)</term><term>Brain (metabolism)</term><term>Brain (pathology)</term><term>DNA-Binding Proteins (analysis)</term><term>DNA-Binding Proteins (genetics)</term><term>DNA-Binding Proteins (metabolism)</term><term>Developmental Disabilities (genetics)</term><term>Developmental Disabilities (pathology)</term><term>Developmental Disabilities (physiopathology)</term><term>Eye Abnormalities (genetics)</term><term>Female</term><term>Genes, Essential (genetics)</term><term>Haploinsufficiency (genetics)</term><term>Head (abnormalities)</term><term>Heterozygote</term><term>Humans</term><term>Intellectual Disability (genetics)</term><term>Intellectual Disability (pathology)</term><term>Intellectual Disability (physiopathology)</term><term>Male</term><term>Metabolic Diseases (genetics)</term><term>Metabolic Diseases (metabolism)</term><term>Minor Histocompatibility Antigens (analysis)</term><term>Minor Histocompatibility Antigens (genetics)</term><term>Minor Histocompatibility Antigens (metabolism)</term><term>Mutation (genetics)</term><term>Pedigree</term><term>RNA Splicing (genetics)</term><term>RNA, Messenger (analysis)</term><term>Spine (abnormalities)</term><term>Syndrome</term><term>Zebrafish (abnormalities)</term><term>Zebrafish (embryology)</term><term>Zebrafish (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>ARN messager (analyse)</term><term>Animaux</term><term>Antigènes mineurs d'histocompatibilité (analyse)</term><term>Antigènes mineurs d'histocompatibilité (génétique)</term><term>Antigènes mineurs d'histocompatibilité (métabolisme)</term><term>Danio zébré (embryologie)</term><term>Danio zébré (génétique)</term><term>Danio zébré (malformations)</term><term>Déficience intellectuelle (anatomopathologie)</term><term>Déficience intellectuelle (génétique)</term><term>Déficience intellectuelle (physiopathologie)</term><term>Encéphale (anatomopathologie)</term><term>Encéphale (embryologie)</term><term>Encéphale (malformations)</term><term>Encéphale (métabolisme)</term><term>Femelle</term><term>Gènes essentiels (génétique)</term><term>Haploinsuffisance (génétique)</term><term>Humains</term><term>Hétérozygote</term><term>Incapacités de développement (anatomopathologie)</term><term>Incapacités de développement (génétique)</term><term>Incapacités de développement (physiopathologie)</term><term>Maladies métaboliques (génétique)</term><term>Maladies métaboliques (métabolisme)</term><term>Malformations oculaires (génétique)</term><term>Mutation (génétique)</term><term>Mâle</term><term>Pedigree</term><term>Protéines de liaison à l'ADN (analyse)</term><term>Protéines de liaison à l'ADN (génétique)</term><term>Protéines de liaison à l'ADN (métabolisme)</term><term>Rachis (malformations)</term><term>Syndrome</term><term>Tête (malformations)</term><term>Épissage des ARN (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analysis" xml:lang="en"><term>DNA-Binding Proteins</term><term>Minor Histocompatibility Antigens</term><term>RNA, Messenger</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Brain</term><term>Head</term><term>Spine</term><term>Zebrafish</term></keywords><keywords scheme="MESH" qualifier="analyse" xml:lang="fr"><term>ARN messager</term><term>Antigènes mineurs d'histocompatibilité</term><term>Protéines de liaison à l'ADN</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Déficience intellectuelle</term><term>Encéphale</term><term>Incapacités de développement</term></keywords><keywords scheme="MESH" qualifier="embryologie" xml:lang="fr"><term>Danio zébré</term><term>Encéphale</term></keywords><keywords scheme="MESH" qualifier="embryology" xml:lang="en"><term>Brain</term><term>Zebrafish</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA-Binding Proteins</term><term>Developmental Disabilities</term><term>Eye Abnormalities</term><term>Genes, Essential</term><term>Haploinsufficiency</term><term>Intellectual Disability</term><term>Metabolic Diseases</term><term>Minor Histocompatibility Antigens</term><term>Mutation</term><term>RNA Splicing</term><term>Zebrafish</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Antigènes mineurs d'histocompatibilité</term><term>Danio zébré</term><term>Déficience intellectuelle</term><term>Gènes essentiels</term><term>Haploinsuffisance</term><term>Incapacités de développement</term><term>Maladies métaboliques</term><term>Malformations oculaires</term><term>Mutation</term><term>Protéines de liaison à l'ADN</term><term>Épissage des ARN</term></keywords><keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Danio zébré</term><term>Encéphale</term><term>Rachis</term><term>Tête</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term><term>DNA-Binding Proteins</term><term>Metabolic Diseases</term><term>Minor Histocompatibility Antigens</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Antigènes mineurs d'histocompatibilité</term><term>Encéphale</term><term>Maladies métaboliques</term><term>Protéines de liaison à l'ADN</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Developmental Disabilities</term><term>Intellectual Disability</term></keywords><keywords scheme="MESH" qualifier="physiopathologie" xml:lang="fr"><term>Déficience intellectuelle</term><term>Incapacités de développement</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Developmental Disabilities</term><term>Intellectual Disability</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Animals</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Syndrome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Animaux</term><term>Femelle</term><term>Humains</term><term>Hétérozygote</term><term>Mâle</term><term>Pedigree</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The overall understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD) is increasing as next-generation sequencing technologies identify genetic variants in individuals with such disorders. However, detailed analyses conclusively confirming these variants, as well as the underlying molecular mechanisms explaining the diseases, are often lacking. Here, we report on an ID syndrome caused by de novo heterozygous loss-of-function (LoF) mutations in SON. The syndrome is characterized by ID and/or DD, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal abnormalities, and congenital malformations. Knockdown of son in zebrafish resulted in severe malformation of the spine, brain, and eyes. Importantly, analyses of RNA from affected individuals revealed that genes critical for neuronal migration and cortex organization (TUBG1, FLNA, PNKP, WDR62, PSMD3, and HDAC6) and metabolism (PCK2, PFKL, IDH2, ACY1, and ADA) are significantly downregulated because of the accumulation of mis-spliced transcripts resulting from erroneous SON-mediated RNA splicing. Our data highlight SON as a master regulator governing neurodevelopment and demonstrate the importance of SON-mediated RNA splicing in human development.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">27545680</PMID><DateCreated><Year>2016</Year><Month>09</Month><Day>03</Day></DateCreated><DateCompleted><Year>2017</Year><Month>05</Month><Day>02</Day></DateCompleted><DateRevised><Year>2017</Year><Month>10</Month><Day>16</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1537-6605</ISSN><JournalIssue CitedMedium="Internet"><Volume>99</Volume><Issue>3</Issue><PubDate><Year>2016</Year><Month>09</Month><Day>01</Day></PubDate></JournalIssue><Title>American journal of human genetics</Title><ISOAbbreviation>Am. J. Hum. Genet.</ISOAbbreviation></Journal><ArticleTitle>De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.</ArticleTitle><Pagination><MedlinePgn>711-719</MedlinePgn></Pagination><ELocationID EIdType="pii" ValidYN="Y">S0002-9297(16)30267-1</ELocationID><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.ajhg.2016.06.029</ELocationID><Abstract><AbstractText>The overall understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD) is increasing as next-generation sequencing technologies identify genetic variants in individuals with such disorders. However, detailed analyses conclusively confirming these variants, as well as the underlying molecular mechanisms explaining the diseases, are often lacking. Here, we report on an ID syndrome caused by de novo heterozygous loss-of-function (LoF) mutations in SON. The syndrome is characterized by ID and/or DD, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal abnormalities, and congenital malformations. Knockdown of son in zebrafish resulted in severe malformation of the spine, brain, and eyes. Importantly, analyses of RNA from affected individuals revealed that genes critical for neuronal migration and cortex organization (TUBG1, FLNA, PNKP, WDR62, PSMD3, and HDAC6) and metabolism (PCK2, PFKL, IDH2, ACY1, and ADA) are significantly downregulated because of the accumulation of mis-spliced transcripts resulting from erroneous SON-mediated RNA splicing. Our data highlight SON as a master regulator governing neurodevelopment and demonstrate the importance of SON-mediated RNA splicing in human development.</AbstractText><CopyrightInformation>Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kim</LastName><ForeName>Jung-Hyun</ForeName><Initials>JH</Initials><AffiliationInfo><Affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Shinde</LastName><ForeName>Deepali N</ForeName><Initials>DN</Initials><AffiliationInfo><Affiliation>Ambry Genetics, Aliso Viejo, CA 92656, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Reijnders</LastName><ForeName>Margot R F</ForeName><Initials>MRF</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hauser</LastName><ForeName>Natalie S</ForeName><Initials>NS</Initials><AffiliationInfo><Affiliation>Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA 93636, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Belmonte</LastName><ForeName>Rebecca L</ForeName><Initials>RL</Initials><AffiliationInfo><Affiliation>Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wilson</LastName><ForeName>Gregory R</ForeName><Initials>GR</Initials><AffiliationInfo><Affiliation>Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bosch</LastName><ForeName>Daniëlle G M</ForeName><Initials>DGM</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bubulya</LastName><ForeName>Paula A</ForeName><Initials>PA</Initials><AffiliationInfo><Affiliation>Department of Biological Sciences, Wright State University, Dayton, OH 45435, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Shashi</LastName><ForeName>Vandana</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Petrovski</LastName><ForeName>Slavé</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Medicine, University of Melbourne, Austin Hospital and Royal Melbourne Hospital, Parkville, VIC 3010, Australia; Institute for Genomic Medicine, Columbia University, New York, NY 10027, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stone</LastName><ForeName>Joshua K</ForeName><Initials>JK</Initials><AffiliationInfo><Affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Park</LastName><ForeName>Eun Young</ForeName><Initials>EY</Initials><AffiliationInfo><Affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Veltman</LastName><ForeName>Joris A</ForeName><Initials>JA</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sinnema</LastName><ForeName>Margje</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stumpel</LastName><ForeName>Connie T R M</ForeName><Initials>CTRM</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Draaisma</LastName><ForeName>Jos M</ForeName><Initials>JM</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Radboudumc Amalia Children's Hospital, 6500 HB Nijmegen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nicolai</LastName><ForeName>Joost</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Neurology, Maastricht University Medical Center, 6299 HX Maastricht, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><CollectiveName>University of Washington Center for Mendelian Genomics</CollectiveName></Author><Author ValidYN="Y"><LastName>Yntema</LastName><ForeName>Helger G</ForeName><Initials>HG</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lindstrom</LastName><ForeName>Kristin</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>de Vries</LastName><ForeName>Bert B A</ForeName><Initials>BBA</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jewett</LastName><ForeName>Tamison</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Section on Medical Genetics, Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Santoro</LastName><ForeName>Stephanie L</ForeName><Initials>SL</Initials><AffiliationInfo><Affiliation>Nationwide Children's Hospital, Columbus, OH 43205, USA; Ohio State University College of Medicine, Columbus, OH 43210, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vogt</LastName><ForeName>Julie</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham B15 2TG, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><CollectiveName>Deciphering Developmental Disorders Study</CollectiveName><AffiliationInfo><Affiliation>Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bachman</LastName><ForeName>Kristine K</ForeName><Initials>KK</Initials><AffiliationInfo><Affiliation>Geisinger Medical Center, Danville, PA 17822, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Seeley</LastName><ForeName>Andrea H</ForeName><Initials>AH</Initials><AffiliationInfo><Affiliation>Geisinger Medical Center, Danville, PA 17822, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Krokosky</LastName><ForeName>Alyson</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Turner</LastName><ForeName>Clesson</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rohena</LastName><ForeName>Luis</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, Fort Sam Houston, TX 78234, USA; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hempel</LastName><ForeName>Maja</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kortüm</LastName><ForeName>Fanny</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lessel</LastName><ForeName>Davor</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Neu</LastName><ForeName>Axel</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Strom</LastName><ForeName>Tim M</ForeName><Initials>TM</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wieczorek</LastName><ForeName>Dagmar</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University Clinic Düsseldorf, Heinrich-Heine-University, 40225 Düsseldorf, Germany; Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bramswig</LastName><ForeName>Nuria</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Laccone</LastName><ForeName>Franco A</ForeName><Initials>FA</Initials><AffiliationInfo><Affiliation>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Behunova</LastName><ForeName>Jana</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rehder</LastName><ForeName>Helga</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gordon</LastName><ForeName>Christopher T</ForeName><Initials>CT</Initials><AffiliationInfo><Affiliation>Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rio</LastName><ForeName>Marlène</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Département de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Romana</LastName><ForeName>Serge</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Service de Cytogénétique, Hôpital Necker-Enfants Malades, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tang</LastName><ForeName>Sha</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Ambry Genetics, Aliso Viejo, CA 92656, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>El-Khechen</LastName><ForeName>Dima</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Ambry Genetics, Aliso Viejo, CA 92656, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cho</LastName><ForeName>Megan T</ForeName><Initials>MT</Initials><AffiliationInfo><Affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>McWalter</LastName><ForeName>Kirsty</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Douglas</LastName><ForeName>Ganka</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Baskin</LastName><ForeName>Berivan</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Begtrup</LastName><ForeName>Amber</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Funari</LastName><ForeName>Tara</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schoch</LastName><ForeName>Kelly</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stegmann</LastName><ForeName>Alexander P A</ForeName><Initials>APA</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stevens</LastName><ForeName>Servi J C</ForeName><Initials>SJC</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zhang</LastName><ForeName>Dong-Er</ForeName><Initials>DE</Initials><AffiliationInfo><Affiliation>Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA; Department of Pathology, University of California, San Diego, La Jolla, CA 92093, USA; Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Traver</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Yao</LastName><ForeName>Xu</ForeName><Initials>X</Initials><AffiliationInfo><Affiliation>Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>MacArthur</LastName><ForeName>Daniel G</ForeName><Initials>DG</Initials><AffiliationInfo><Affiliation>Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brunner</LastName><ForeName>Han G</ForeName><Initials>HG</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mancini</LastName><ForeName>Grazia M</ForeName><Initials>GM</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Myers</LastName><ForeName>Richard M</ForeName><Initials>RM</Initials><AffiliationInfo><Affiliation>HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Owen</LastName><ForeName>Laurie B</ForeName><Initials>LB</Initials><AffiliationInfo><Affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lim</LastName><ForeName>Ssang-Taek</ForeName><Initials>ST</Initials><AffiliationInfo><Affiliation>Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stachura</LastName><ForeName>David L</ForeName><Initials>DL</Initials><AffiliationInfo><Affiliation>Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vissers</LastName><ForeName>Lisenka E L M</ForeName><Initials>LELM</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: lisenka.vissers@radboudumc.nl.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ahn</LastName><ForeName>Eun-Young Erin</ForeName><Initials>EYE</Initials><AffiliationInfo><Affiliation>Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address: eahn@health.southalabama.edu.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>U54 HG006493</GrantID><Acronym>HG</Acronym><Agency>NHGRI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R21 CA185818</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R15 GM084407</GrantID><Acronym>GM</Acronym><Agency>NIGMS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 CA190688</GrantID><Acronym>CA</Acronym><Agency>NCI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>UM1 HG006493</GrantID><Acronym>HG</Acronym><Agency>NHGRI NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>08</Month><Day>18</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Am J Hum Genet</MedlineTA><NlmUniqueID>0370475</NlmUniqueID><ISSNLinking>0002-9297</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D004268">DNA-Binding Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D015778">Minor Histocompatibility Antigens</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D012333">RNA, Messenger</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C088203">SON protein, human</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>PLoS Genet. 2013;9(8):e1003709</RefSource><PMID 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MajorTopicYN="N">RNA, Messenger</DescriptorName><QualifierName UI="Q000032" MajorTopicYN="N">analysis</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D013131" MajorTopicYN="N">Spine</DescriptorName><QualifierName UI="Q000002" MajorTopicYN="N">abnormalities</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D013577" MajorTopicYN="N">Syndrome</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015027" MajorTopicYN="N">Zebrafish</DescriptorName><QualifierName UI="Q000002" MajorTopicYN="N">abnormalities</QualifierName><QualifierName UI="Q000196" MajorTopicYN="N">embryology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading></MeshHeadingList><OtherID Source="NLM">PMC5011044 [Available on 03/01/17]</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>05</Month><Day>04</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>06</Month><Day>24</Day></PubMedPubDate><PubMedPubDate PubStatus="pmc-release"><Year>2017</Year><Month>03</Month><Day>01</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>8</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>8</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>5</Month><Day>4</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27545680</ArticleId><ArticleId IdType="pii">S0002-9297(16)30267-1</ArticleId><ArticleId IdType="doi">10.1016/j.ajhg.2016.06.029</ArticleId><ArticleId 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Strom</name><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name></country><country name="Autriche"><region name="Vienne (Autriche)"><name sortKey="Laccone, Franco A" sort="Laccone, Franco A" uniqKey="Laccone F" first="Franco A" last="Laccone">Franco A. Laccone</name></region><name sortKey="Behunova, Jana" sort="Behunova, Jana" uniqKey="Behunova J" first="Jana" last="Behunova">Jana Behunova</name><name sortKey="Rehder, Helga" sort="Rehder, Helga" uniqKey="Rehder H" first="Helga" last="Rehder">Helga Rehder</name></country><country name="France"><region name="Île-de-France"><name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T" last="Gordon">Christopher T. Gordon</name></region><name sortKey="Rio, Marlene" sort="Rio, Marlene" uniqKey="Rio M" first="Marlène" last="Rio">Marlène Rio</name><name sortKey="Romana, Serge" sort="Romana, Serge" uniqKey="Romana S" first="Serge" last="Romana">Serge Romana</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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