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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

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Title: Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Authors: Cogné B; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France., Ehresmann S; Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada., Beauregard-Lacroix E; Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada., Rousseau J; Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada., Besnard T; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France., Garcia T; Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada., Petrovski S; Department of Medicine, University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, VIC 3010, Australia; AstraZeneca Centre for Genomics Research, Precision Medicine and Genomics, IMED Biotech Unit, AstraZeneca, Cambridge CB2 0AA, UK., Avni S; Visual Geometry Group, Department of Engineering Science, University of Oxford, Oxford OX1 3PJ, UK., McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Blackburn PR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA., Sanders SJ; Department of Psychiatry, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA., Uguen K; UMR 1078, Génétique, Génomique Fonctionnelle et Biotechnologies, Inserm, L'Etablissement Français du Sang, Institut Brestois Santé Agro Matière, Université de Brest Occidentale, 29200 Brest, France; Service de Génétique médicale et de biologie de la reproduction, Centre Hospitalier Regional Universitaire Brest, 29200 Brest, France., Harris J; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Cohen JS; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD 21205, USA., Blyth M; Department of Clinical Genetics, Chapel Allerton Hospital, Yorkshire Regional Genetics Service, Leeds Teaching Hospitals National Health Service Trust, Chapeltown Road, Leeds LS7 4SA, UK., Lehman A; Department of Pediatrics, University of British Columbia, Vancouver, BC V6H 3N1, Canada., Berg J; Molecular and Clinical Medicine, School of Medicine, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK., Li MH; Rush University Medical Center, Department of Pediatrics, Division of Genetics, Chicago, IL 60612, USA., Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Service Trust, Oxford OX3 7LE, UK., Joss S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., von der Lippe C; Department of Medical Genetics, St. Olav's Hospital, Trondheim University Hospital, 7006 Trondheim, Norway., Gordon CT; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (Inserm), UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France., Humberson JB; Division of Genetics, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, VA 22903, USA., Robak L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Johnston JJ; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4472, USA., Poduri A; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Nordenskjöld M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Gerkes EH; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, 9700 RB, the Netherlands., Bongers EMHF; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands., Gilissen C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands., Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA., Kvarnung M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden., Lally KP; Department of Pediatric Surgery, The McGovern Medical School at the University of Texas Health Science Center and Children's Memorial Hermann Hospital, Houston, TX 77030, USA., Kulch PA; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA., Daniels B; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA., Hernandez-Garcia A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Stong N; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA., McGaughran J; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland 4029, Australia; School of Medicine, The University of Queensland, Brisbane, Queensland 4029, Australia., Retterer K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway., Sullivan J; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Geisheker MR; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA., Stray-Pedersen A; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolecent Medicine, Oslo University Hospital, Rikshospitalet, Pb 4950 Nydalen, N-0424 Oslo, Norway., Tarpinian JM; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Klee EW; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA., Sapp JC; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4472, USA., Zyskind J; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway., Bedoukian E; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Filippini F; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (Inserm), UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France., Guimier A; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (Inserm), UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), 75015 Paris, France., Picard A; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Chirurgie Maxillofaciale et Plastique, Centre de référence des Malformations de la Face et de la Cavité Buccale, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), 75015 Paris, France., Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway., Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands., Lindstrand A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden., Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden., Kalb F; Division of Genetics, Birth Defects, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Desai M; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Ebanks AH; Department of Pediatric Surgery, The McGovern Medical School at the University of Texas Health Science Center and Children's Memorial Hermann Hospital, Houston, TX 77030, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Dewan T; Department of Pediatrics, University of British Columbia, Vancouver, BC V6H 3N1, Canada., Coban Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Telegrafi A; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Begtrup A; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Song X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Toutain A; Service de Génétique, Centre Hospitalier Universitaire de Tours, 2 Boulevard Tonnellé, 37044 Tours, France; Inserm U1253, Ibrain, Université de Tours, 37032 Tours, France., Wentzensen IM; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Odent S; Service de Génétique Clinique, Centre Référence Déficiences Intellectuelles de Causes Rares, Centre de Référence Anomalies du Développement, Centre Labellisé pour les Anomalies du Développement (CLAD) Ouest, Centre Hospitalier Universitaire de Rennes, 35203 Rennes, France; Institut de Génétique et Développement de Rennes, UMR 6290, Université de Rennes, 2 Avenue du Professeur Léon Bernard, 35043 Rennes, France., Bonneau D; Centre Hospitalier Universitaire de Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; Mitochondrial and Cardiovascular Pathophysiology (MITOVASC), Unité mixte de Recherche, Centre National de la Recherche Scientifique 6015, Inserm 1083, Université d'Angers, 49933 Angers, France., Latypova X; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France., Deb W; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France., Redon S; UMR 1078, Génétique, Génomique Fonctionnelle et Biotechnologies, Inserm, L'Etablissement Français du Sang, Institut Brestois Santé Agro Matière, Université de Brest Occidentale, 29200 Brest, France; Service de Génétique médicale et de biologie de la reproduction, Centre Hospitalier Regional Universitaire Brest, 29200 Brest, France., Bilan F; Centre Hospitalier Universitaire de Poitiers, Service de Génétique, BP577, 86021 Poitiers, France; Equipe d'accueil 3808, Université Poitiers, Poitiers 86034, France., Legendre M; Centre Hospitalier Universitaire de Poitiers, Service de Génétique, BP577, 86021 Poitiers, France; Equipe d'accueil 3808, Université Poitiers, Poitiers 86034, France., Troyer C; Division of Genetics, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, VA 22903, USA., Whitlock K; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada., Caluseriu O; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada., Murphree MI; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Agre K; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Gavrilova R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA., Rinne T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands., Park M; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA., Shain C; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Heinzen EL; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA., Xiao R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Amiel J; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (Inserm), UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), 75015 Paris, France., Lyonnet S; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (Inserm), UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), 75015 Paris, France., Isidor B; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France., Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4472, USA., Lowenstein D; Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Denommé-Pichon AS; Centre Hospitalier Universitaire de Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; Mitochondrial and Cardiovascular Pathophysiology (MITOVASC), Unité mixte de Recherche, Centre National de la Recherche Scientifique 6015, Inserm 1083, Université d'Angers, 49933 Angers, France., Férec C; UMR 1078, Génétique, Génomique Fonctionnelle et Biotechnologies, Inserm, L'Etablissement Français du Sang, Institut Brestois Santé Agro Matière, Université de Brest Occidentale, 29200 Brest, France; Service de Génétique médicale et de biologie de la reproduction, Centre Hospitalier Regional Universitaire Brest, 29200 Brest, France., Yang XJ; Rosalind & Morris Goodman Cancer Research Center and Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada; Department of Biochemistry, McGill University and McGill University Health Center, Montreal, QC H3A 1A3, Canada., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Gilbert-Dussardier B; Centre Hospitalier Universitaire de Poitiers, Service de Génétique, BP577, 86021 Poitiers, France; Equipe d'accueil 3808, Université Poitiers, Poitiers 86034, France., Audebert-Bellanger S; Service de Génétique médicale et de biologie de la reproduction, Centre Hospitalier Regional Universitaire Brest, 29200 Brest, France., Redon R; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France., Stessman HAF; Department of Pharmacology, Creighton University Medical School, Omaha, NE 68178, USA., Nellaker C; Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, UK; Institute of Biomedical Engineering, Department of Engineering Science, University of Oxford, Oxford, UK; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford OX3 7FZ, UK., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Goldstein DB; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA., Bolduc F; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada; Division of Pediatric Neurology, University of Alberta, Edmonton, AB, Canada; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB, Canada., Bézieau S; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France., Küry S; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr., Campeau PM; Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address: p.campeau@umontreal.ca.
Corporate Authors: CAUSES Study; Department of Pediatrics, University of British Columbia, Vancouver, BC V6H 3N1, Canada., Deciphering Developmental Disorders study; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Source: American journal of human genetics [Am J Hum Genet] 2019 Mar 07; Vol. 104 (3), pp. 530-541. Date of Electronic Publication: 2019 Feb 28.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
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  Label: Authors
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  Data: <searchLink fieldCode="AU" term="%22Cogné+B%22">Cogné B</searchLink>; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France.<br /><searchLink fieldCode="AU" term="%22Ehresmann+S%22">Ehresmann S</searchLink>; Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada.<br /><searchLink fieldCode="AU" term="%22Beauregard-Lacroix+E%22">Beauregard-Lacroix E</searchLink>; Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada.<br /><searchLink fieldCode="AU" term="%22Rousseau+J%22">Rousseau J</searchLink>; Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada.<br /><searchLink fieldCode="AU" term="%22Besnard+T%22">Besnard T</searchLink>; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France.<br /><searchLink fieldCode="AU" term="%22Garcia+T%22">Garcia T</searchLink>; Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada.<br /><searchLink fieldCode="AU" term="%22Petrovski+S%22">Petrovski S</searchLink>; Department of Medicine, University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, VIC 3010, Australia; AstraZeneca Centre for Genomics Research, Precision Medicine and Genomics, IMED Biotech Unit, AstraZeneca, Cambridge CB2 0AA, UK.<br /><searchLink fieldCode="AU" term="%22Avni+S%22">Avni S</searchLink>; Visual Geometry Group, Department of Engineering Science, University of Oxford, Oxford OX1 3PJ, UK.<br /><searchLink fieldCode="AU" term="%22McWalter+K%22">McWalter K</searchLink>; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Blackburn+PR%22">Blackburn PR</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.<br /><searchLink fieldCode="AU" term="%22Sanders+SJ%22">Sanders SJ</searchLink>; Department of Psychiatry, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.<br /><searchLink fieldCode="AU" term="%22Uguen+K%22">Uguen K</searchLink>; UMR 1078, Génétique, Génomique Fonctionnelle et Biotechnologies, Inserm, L'Etablissement Français du Sang, Institut Brestois Santé Agro Matière, Université de Brest Occidentale, 29200 Brest, France; Service de Génétique médicale et de biologie de la reproduction, Centre Hospitalier Regional Universitaire Brest, 29200 Brest, France.<br /><searchLink fieldCode="AU" term="%22Harris+J%22">Harris J</searchLink>; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.<br /><searchLink fieldCode="AU" term="%22Cohen+JS%22">Cohen JS</searchLink>; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD 21205, USA.<br /><searchLink fieldCode="AU" term="%22Blyth+M%22">Blyth M</searchLink>; Department of Clinical Genetics, Chapel Allerton Hospital, Yorkshire Regional Genetics Service, Leeds Teaching Hospitals National Health Service Trust, Chapeltown Road, Leeds LS7 4SA, UK.<br /><searchLink fieldCode="AU" term="%22Lehman+A%22">Lehman A</searchLink>; Department of Pediatrics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.<br /><searchLink fieldCode="AU" term="%22Berg+J%22">Berg J</searchLink>; Molecular and Clinical Medicine, School of Medicine, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK.<br /><searchLink fieldCode="AU" term="%22Li+MH%22">Li MH</searchLink>; Rush University Medical Center, Department of Pediatrics, Division of Genetics, Chicago, IL 60612, USA.<br /><searchLink fieldCode="AU" term="%22Kini+U%22">Kini U</searchLink>; Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Service Trust, Oxford OX3 7LE, UK.<br /><searchLink fieldCode="AU" term="%22Joss+S%22">Joss S</searchLink>; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.<br /><searchLink fieldCode="AU" term="%22von+der+Lippe+C%22">von der Lippe C</searchLink>; Department of Medical Genetics, St. Olav's Hospital, Trondheim University Hospital, 7006 Trondheim, Norway.<br /><searchLink fieldCode="AU" term="%22Gordon+CT%22">Gordon CT</searchLink>; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (Inserm), UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France.<br /><searchLink fieldCode="AU" term="%22Humberson+JB%22">Humberson JB</searchLink>; Division of Genetics, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, VA 22903, USA.<br /><searchLink fieldCode="AU" term="%22Robak+L%22">Robak L</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Scott+DA%22">Scott DA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Sutton+VR%22">Sutton VR</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.<br /><searchLink fieldCode="AU" term="%22Skraban+CM%22">Skraban CM</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Johnston+JJ%22">Johnston JJ</searchLink>; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4472, USA.<br /><searchLink fieldCode="AU" term="%22Poduri+A%22">Poduri A</searchLink>; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Nordenskjöld+M%22">Nordenskjöld M</searchLink>; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Shashi+V%22">Shashi V</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.<br /><searchLink fieldCode="AU" term="%22Gerkes+EH%22">Gerkes EH</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, 9700 RB, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Bongers+EMHF%22">Bongers EMHF</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Gilissen+C%22">Gilissen C</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Zarate+YA%22">Zarate YA</searchLink>; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.<br /><searchLink fieldCode="AU" term="%22Kvarnung+M%22">Kvarnung M</searchLink>; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Lally+KP%22">Lally KP</searchLink>; Department of Pediatric Surgery, The McGovern Medical School at the University of Texas Health Science Center and Children's Memorial Hermann Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Kulch+PA%22">Kulch PA</searchLink>; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.<br /><searchLink fieldCode="AU" term="%22Daniels+B%22">Daniels B</searchLink>; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.<br /><searchLink fieldCode="AU" term="%22Hernandez-Garcia+A%22">Hernandez-Garcia A</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Stong+N%22">Stong N</searchLink>; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.<br /><searchLink fieldCode="AU" term="%22McGaughran+J%22">McGaughran J</searchLink>; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland 4029, Australia; School of Medicine, The University of Queensland, Brisbane, Queensland 4029, Australia.<br /><searchLink fieldCode="AU" term="%22Retterer+K%22">Retterer K</searchLink>; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Tveten+K%22">Tveten K</searchLink>; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Sullivan+J%22">Sullivan J</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.<br /><searchLink fieldCode="AU" term="%22Geisheker+MR%22">Geisheker MR</searchLink>; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Stray-Pedersen+A%22">Stray-Pedersen A</searchLink>; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolecent Medicine, Oslo University Hospital, Rikshospitalet, Pb 4950 Nydalen, N-0424 Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Tarpinian+JM%22">Tarpinian JM</searchLink>; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Klee+EW%22">Klee EW</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.<br /><searchLink fieldCode="AU" term="%22Sapp+JC%22">Sapp JC</searchLink>; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4472, USA.<br /><searchLink fieldCode="AU" term="%22Zyskind+J%22">Zyskind J</searchLink>; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Holla+ØL%22">Holla ØL</searchLink>; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Bedoukian+E%22">Bedoukian E</searchLink>; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Filippini+F%22">Filippini F</searchLink>; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (Inserm), UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France.<br /><searchLink fieldCode="AU" term="%22Guimier+A%22">Guimier A</searchLink>; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (Inserm), UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), 75015 Paris, France.<br /><searchLink fieldCode="AU" term="%22Picard+A%22">Picard A</searchLink>; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Chirurgie Maxillofaciale et Plastique, Centre de référence des Malformations de la Face et de la Cavité Buccale, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), 75015 Paris, France.<br /><searchLink fieldCode="AU" term="%22Busk+ØL%22">Busk ØL</searchLink>; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Punetha+J%22">Punetha J</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Pfundt+R%22">Pfundt R</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Lindstrand+A%22">Lindstrand A</searchLink>; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Nordgren+A%22">Nordgren A</searchLink>; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Kalb+F%22">Kalb F</searchLink>; Division of Genetics, Birth Defects, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.<br /><searchLink fieldCode="AU" term="%22Desai+M%22">Desai M</searchLink>; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Ebanks+AH%22">Ebanks AH</searchLink>; Department of Pediatric Surgery, The McGovern Medical School at the University of Texas Health Science Center and Children's Memorial Hermann Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Jhangiani+SN%22">Jhangiani SN</searchLink>; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Dewan+T%22">Dewan T</searchLink>; Department of Pediatrics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.<br /><searchLink fieldCode="AU" term="%22Coban+Akdemir+ZH%22">Coban Akdemir ZH</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Telegrafi+A%22">Telegrafi A</searchLink>; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Zackai+EH%22">Zackai EH</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Begtrup+A%22">Begtrup A</searchLink>; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Song+X%22">Song X</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Toutain+A%22">Toutain A</searchLink>; Service de Génétique, Centre Hospitalier Universitaire de Tours, 2 Boulevard Tonnellé, 37044 Tours, France; Inserm U1253, Ibrain, Université de Tours, 37032 Tours, France.<br /><searchLink fieldCode="AU" term="%22Wentzensen+IM%22">Wentzensen IM</searchLink>; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Odent+S%22">Odent S</searchLink>; Service de Génétique Clinique, Centre Référence Déficiences Intellectuelles de Causes Rares, Centre de Référence Anomalies du Développement, Centre Labellisé pour les Anomalies du Développement (CLAD) Ouest, Centre Hospitalier Universitaire de Rennes, 35203 Rennes, France; Institut de Génétique et Développement de Rennes, UMR 6290, Université de Rennes, 2 Avenue du Professeur Léon Bernard, 35043 Rennes, France.<br /><searchLink fieldCode="AU" term="%22Bonneau+D%22">Bonneau D</searchLink>; Centre Hospitalier Universitaire de Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; Mitochondrial and Cardiovascular Pathophysiology (MITOVASC), Unité mixte de Recherche, Centre National de la Recherche Scientifique 6015, Inserm 1083, Université d'Angers, 49933 Angers, France.<br /><searchLink fieldCode="AU" term="%22Latypova+X%22">Latypova X</searchLink>; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France.<br /><searchLink fieldCode="AU" term="%22Deb+W%22">Deb W</searchLink>; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France.<br /><searchLink fieldCode="AU" term="%22Redon+S%22">Redon S</searchLink>; UMR 1078, Génétique, Génomique Fonctionnelle et Biotechnologies, Inserm, L'Etablissement Français du Sang, Institut Brestois Santé Agro Matière, Université de Brest Occidentale, 29200 Brest, France; Service de Génétique médicale et de biologie de la reproduction, Centre Hospitalier Regional Universitaire Brest, 29200 Brest, France.<br /><searchLink fieldCode="AU" term="%22Bilan+F%22">Bilan F</searchLink>; Centre Hospitalier Universitaire de Poitiers, Service de Génétique, BP577, 86021 Poitiers, France; Equipe d'accueil 3808, Université Poitiers, Poitiers 86034, France.<br /><searchLink fieldCode="AU" term="%22Legendre+M%22">Legendre M</searchLink>; Centre Hospitalier Universitaire de Poitiers, Service de Génétique, BP577, 86021 Poitiers, France; Equipe d'accueil 3808, Université Poitiers, Poitiers 86034, France.<br /><searchLink fieldCode="AU" term="%22Troyer+C%22">Troyer C</searchLink>; Division of Genetics, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, VA 22903, USA.<br /><searchLink fieldCode="AU" term="%22Whitlock+K%22">Whitlock K</searchLink>; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.<br /><searchLink fieldCode="AU" term="%22Caluseriu+O%22">Caluseriu O</searchLink>; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.<br /><searchLink fieldCode="AU" term="%22Murphree+MI%22">Murphree MI</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.<br /><searchLink fieldCode="AU" term="%22Pichurin+PN%22">Pichurin PN</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.<br /><searchLink fieldCode="AU" term="%22Agre+K%22">Agre K</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.<br /><searchLink fieldCode="AU" term="%22Gavrilova+R%22">Gavrilova R</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.<br /><searchLink fieldCode="AU" term="%22Rinne+T%22">Rinne T</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Park+M%22">Park M</searchLink>; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Shain+C%22">Shain C</searchLink>; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Heinzen+EL%22">Heinzen EL</searchLink>; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.<br /><searchLink fieldCode="AU" term="%22Xiao+R%22">Xiao R</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.<br /><searchLink fieldCode="AU" term="%22Amiel+J%22">Amiel J</searchLink>; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (Inserm), UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), 75015 Paris, France.<br /><searchLink fieldCode="AU" term="%22Lyonnet+S%22">Lyonnet S</searchLink>; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (Inserm), UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), 75015 Paris, France.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France.<br /><searchLink fieldCode="AU" term="%22Biesecker+LG%22">Biesecker LG</searchLink>; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4472, USA.<br /><searchLink fieldCode="AU" term="%22Lowenstein+D%22">Lowenstein D</searchLink>; Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA.<br /><searchLink fieldCode="AU" term="%22Posey+JE%22">Posey JE</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Denommé-Pichon+AS%22">Denommé-Pichon AS</searchLink>; Centre Hospitalier Universitaire de Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; Mitochondrial and Cardiovascular Pathophysiology (MITOVASC), Unité mixte de Recherche, Centre National de la Recherche Scientifique 6015, Inserm 1083, Université d'Angers, 49933 Angers, France.<br /><searchLink fieldCode="AU" term="%22Férec+C%22">Férec C</searchLink>; UMR 1078, Génétique, Génomique Fonctionnelle et Biotechnologies, Inserm, L'Etablissement Français du Sang, Institut Brestois Santé Agro Matière, Université de Brest Occidentale, 29200 Brest, France; Service de Génétique médicale et de biologie de la reproduction, Centre Hospitalier Regional Universitaire Brest, 29200 Brest, France.<br /><searchLink fieldCode="AU" term="%22Yang+XJ%22">Yang XJ</searchLink>; Rosalind & Morris Goodman Cancer Research Center and Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada; Department of Biochemistry, McGill University and McGill University Health Center, Montreal, QC H3A 1A3, Canada.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Gilbert-Dussardier+B%22">Gilbert-Dussardier B</searchLink>; Centre Hospitalier Universitaire de Poitiers, Service de Génétique, BP577, 86021 Poitiers, France; Equipe d'accueil 3808, Université Poitiers, Poitiers 86034, France.<br /><searchLink fieldCode="AU" term="%22Audebert-Bellanger+S%22">Audebert-Bellanger S</searchLink>; Service de Génétique médicale et de biologie de la reproduction, Centre Hospitalier Regional Universitaire Brest, 29200 Brest, France.<br /><searchLink fieldCode="AU" term="%22Redon+R%22">Redon R</searchLink>; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France.<br /><searchLink fieldCode="AU" term="%22Stessman+HAF%22">Stessman HAF</searchLink>; Department of Pharmacology, Creighton University Medical School, Omaha, NE 68178, USA.<br /><searchLink fieldCode="AU" term="%22Nellaker+C%22">Nellaker C</searchLink>; Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, UK; Institute of Biomedical Engineering, Department of Engineering Science, University of Oxford, Oxford, UK; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford OX3 7FZ, UK.<br /><searchLink fieldCode="AU" term="%22Yang+Y%22">Yang Y</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.<br /><searchLink fieldCode="AU" term="%22Lupski+JR%22">Lupski JR</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Goldstein+DB%22">Goldstein DB</searchLink>; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.<br /><searchLink fieldCode="AU" term="%22Eichler+EE%22">Eichler EE</searchLink>; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Bolduc+F%22">Bolduc F</searchLink>; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada; Division of Pediatric Neurology, University of Alberta, Edmonton, AB, Canada; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB, Canada.<br /><searchLink fieldCode="AU" term="%22Bézieau+S%22">Bézieau S</searchLink>; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France.<br /><searchLink fieldCode="AU" term="%22Küry+S%22">Küry S</searchLink>; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr.<br /><searchLink fieldCode="AU" term="%22Campeau+PM%22">Campeau PM</searchLink>; Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address: p.campeau@umontreal.ca.
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  Data: <searchLink fieldCode="CA" term="%22CAUSES+Study%22">CAUSES Study</searchLink>; Department of Pediatrics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.<br /><searchLink fieldCode="CA" term="%22Deciphering+Developmental+Disorders+study%22">Deciphering Developmental Disorders study</searchLink>; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
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  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2019 Mar 07; Vol. 104 (3), pp. 530-541. <i>Date of Electronic Publication: </i>2019 Feb 28.
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  Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1537-6605 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.ajhg.2019.01.010
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        Text: English
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      – TitleFull: Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
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          Dates:
            – D: 07
              M: 03
              Text: 2019 Mar 07
              Type: published
              Y: 2019
          Identifiers:
            – Type: issn-electronic
              Value: 1537-6605
          Numbering:
            – Type: volume
              Value: 104
            – Type: issue
              Value: 3
          Titles:
            – TitleFull: American journal of human genetics
              Type: main
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