부산대학교 도서관

Jansen, Sandra; Geuer, Sinje; Pfundt, Rolph; Brough, Rachel; Ghongane, Priyanka; Herkert, Johanna C.; Marco, Elysa J.; Willemsen, Marjolein H.; Kleefstra, Tjitske; Hannibal, Mark; Shieh, Joseph T.; Lynch, Sally Ann; Flinter, Frances; FitzPatrick, David R.; Gardham, Alice; Bernhard, Birgitta; Ragge, Nicola; Newbury-Ecob, Ruth; Bernier, Raphael; Kvarnung, Malin

American Journal of Human Genetics. Apr2017, Vol. 100 Issue 4, p650-658. 9p.

Demain, L.A.M.; Urquhart, J.E.; O'Sullivan, J.; Williams, S.G.; Bhaskar, S.S.; Jenkinson, E.M.; Lourenco, C.M.; Heiberg, A.; Pearce, S.H.; Shalev, S.A.; Yue, W.W.; Mackinnon, S.; Munro, K.J.; Newbury‐Ecob, R.; Becker, K.; Kim, M.J.; O' Keefe, R.T.; Newman, W.G.

Clinical Genetics. Feb2017, Vol. 91 Issue 2, p302-312. 12p.

Hall HN; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK nikki.hall@ed.ac.uk.; Parry D; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Illumina United Kingdom, Edinburgh, UK.; Halachev M; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Williamson KA; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Donnelly K; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Campos Parada J; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Bhatia S; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Joseph J; MRC Human Genetics Unit, The University of Edinburgh, Edinburgh, UK.; Holden S; East Anglia Regional Genetics Service, Addenbrooke's Hospital, Cambridge, UK.; Prescott TE; Department of Medical Genetics, Telemark Hospital, Skien, Norway.; Bitoun P; Consultations de Génétique médicale, Service de Pédiatrie, CHU Paris-Nord, Hôpital Jean Verdier, Bondy, France.; Kirk EP; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.; Newbury-Ecob R; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.; Lachlan K; University Hospital Southampton, NHS Foundation Trust Wessex Clinical Genetics Service, Southampton, UK.; Bernar J; Department of Genetics, Hospital Ruber Internacional, Madrid, Spain.; van Heyningen V; MRC Human Genetics Unit, The University of Edinburgh, Edinburgh, UK.; Institute of Ophthalmology, University College London, London, UK.; FitzPatrick DR; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.; Meynert A; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Deshwar AR; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Cytrynbaum C; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Murthy H; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Zon J; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Chitayat D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Volpatti J; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Newbury-Ecob R; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, BS2 8EG, UK.; Ellard S; Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, EX2 5DW, UK.; Allen HL; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, CB2 0SL, UK.; Yu EP; Zebrafish Genetics and Disease Models Core Facility, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Noche R; Zebrafish Genetics and Disease Models Core Facility, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Walker S; The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Scherer SW; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Mahida S; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; Elitt CM; Fetal-Neonatal Neurology Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.; Nicolas G; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France.; Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France.; Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France.; Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France.; Dabaj I; Department of Neonatology and Pediatric Intensive Care-Pediatric Neurology, Rouen University Hospital, and INSERM U1245, Normandie University, UNIROUEN, 76000 Rouen, France.; Meddaugh H; Department of Genetics, Children's Hospital of New Orleans, New Orleans, LA 70118, USA.; Marble M; Department of Genetics, Children's Hospital of New Orleans, New Orleans, LA 70118, USA.; Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA.; Keppler-Noreuil KM; Department of Pediatrics, University of Wisconsin-Madison, Madison, WI 53792, USA.; Drayson L; Pediatric Specialists of Virginia, Fairfax, VA 22031, USA.; Barañano KW; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MA 21287, USA.; Chassevent A; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MA 21205, USA.; Agre K; Department of Clinical Genomics, Mayo Clinic, Rochester, NY 55905, USA.; Létard P; Department of Clinical Genetics, Service de Génétique, CHU de Poitiers, CS 90577 - 86021 Poitiers Cedex, France.; Bilan F; Department of Clinical Genetics, Service de Génétique, CHU de Poitiers, CS 90577 - 86021 Poitiers Cedex, France.; EA3808 NEUVACOD, University of Poitiers, 86073 Poitiers, France.; Le Guyader G; Department of Clinical Genetics, Service de Génétique, CHU de Poitiers, CS 90577 - 86021 Poitiers Cedex, France.; EA3808 NEUVACOD, University of Poitiers, 86073 Poitiers, France.; Laquerrière A; Department of Pathology, Normandy Centre for Genomic and Personalized Medicine, Normandie Univeristy, UNIROUEN, INSERM U1245 and Rouen University Hospital, F76000 Rouen, France.; Ramsey K; Translational Genomics Research Institute, Center for Rare Childhood Disorders, Phoenix, AZ 85004, USA.; Henderson L; GeneDx, Gaithersburg, MD 20877, USA.; Brady L; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4K1, Canada.; Tarnopolsky M; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4K1, Canada.; Bainbridge M; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Friedman J; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Department of Neurosciences, University of California San Diego, San Diego, CA 92093, USA.; Department of Pediatrics, University of California San Diego, San Diego, CA 92093, USA.; Capri Y; Département de Génétique, Assistance Publique des Hôpitaux de Paris (AP-HP) Hôpital Robert Debré, 75019 Paris, France.; Athayde L; Mendelics Genomic Analysis, Sao Paulo CEP 02511-000, Brazil.; Kok F; Mendelics Genomic Analysis, Sao Paulo CEP 02511-000, Brazil.; Gurgel-Giannetti J; Department of Pediatrics, Federal University of Minas Gerais School of Medicine, Belo Horizonte - MG - CEP 31270-901, Brazil.; Ramos LLP; Mendelics Genomic Analysis, Sao Paulo CEP 02511-000, Brazil.; Blaser S; Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Dowling JJ; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Division of Neurology, The Hospital for Sick Children, Toronto, ON M5G1X8, Canada.; Department of Molecular Genetics, Faculty of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada.; Weksberg R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Department of Molecular Genetics, Faculty of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada.; Institutes of Medical Sciences, University of Toronto, Toronto, ON M5S 1A8, Canada.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Janssen BDE; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van den Boogaard MH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Lichtenbelt K; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Seaby EG; Genomic Informatics Group, University of Southampton, Southampton, UK.; Stals K; Exeter Genomic Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.; Ellard S; Exeter Genomic Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.; Newbury-Ecob R; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.; Dixit A; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Roht L; Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, Tartu University, Tartu, Estonia.; Pajusalu S; Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, Tartu University, Tartu, Estonia.; Õunap K; Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, Tartu University, Tartu, Estonia.; Firth HV; Wellcome Sanger Institute, Cambridge, UK.; Buckley M; Randwick Genomics laboratory, New South Wales Health Pathology, Sydney, New South Wales, Australia.; Wilson M; Department of Clinical Genetics, Children's Hospital at Westmead, and Discipline of Genomic Medicine, University of Sydney, Sydney, New South Wales, Australia.; Roscioli T; Randwick Genomics laboratory, New South Wales Health Pathology, Sydney, New South Wales, Australia.; Neurosciences Research Australia, University of NSW, Kensington, New South Wales, Australia.; Randwick Genomics laboratory, New South Wales Health Pathology, Sydney, New South Wales, Australia.; Tidwell T; ARUP Laboratories, Salt Lake City, Utah, USA.; Mao R; ARUP Laboratories, Salt Lake City, Utah, USA.; Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Ennis S; Genomic Informatics Group, University of Southampton, Southampton, UK.; Holwerda SJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van Gassen K; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

den Hoed J; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands; International Max Planck Research School for Language Sciences, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands.; de Boer E; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands.; Voisin N; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.; Dingemans AJM; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands.; Guex N; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland; Bioinformatics Competence Center, University of Lausanne, 1015 Lausanne, Switzerland.; Wiel L; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Center for Molecular and Biomolecular Informatics of the Radboudumc, 6500 HB Nijmegen, the Netherlands.; Nellaker C; Nuffield Department of Women's and Reproductive Health, University of Oxford, Women's Centre, John Radcliffe Hospital, Oxford OX3 9DU, UK; Institute of Biomedical Engineering, Department of Engineering Science, University of Oxford, Oxford OX3 7DQ, UK; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford OX3 7LF, UK.; Amudhavalli SM; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.; Banka S; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Bena FS; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland.; Ben-Zeev B; Edmomd and Lilly Safra Pediatric Hospital, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel.; Bonagura VR; Institute of Molecular Medicine, Feinstein Institutes for Medical Research, Manhasset, NY 11030, USA; Pediatrics and Molecular Medicine, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11549, USA.; Bruel AL; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, 21070 Dijon, France.; Brunet T; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany.; Brunner HG; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands; Maastricht University Medical Center, Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, and MHeNS School for Mental health and Neuroscience, PO Box 5800, 6202AZ Maastricht, the Netherlands.; Chew HB; Department of Genetics, Kuala Lumpur Hospital, Jalan Pahang, 50586 Kuala Lumpur, Malaysia.; Chrast J; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.; Cimbalistienė L; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania.; Coon H; Department of Psychiatry, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.; Délot EC; Center for Genetic Medicine Research, Children's National Hospital, Children's Research Institute and Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20010, USA.; Démurger F; Department of clinical genetics, Vannes hospital, 56017 Vannes, France.; Denommé-Pichon AS; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, 21070 Dijon, France.; Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.; Donnai D; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Dyment DA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 5B2, Canada.; Elpeleg O; Department of Genetics, Hadassah Medical Center, Hebrew University Medical Center, 91120 Jerusalem, Israel.; Faivre L; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France.; Gilissen C; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.; Granger L; Department of Rehabilitation and Development, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, OR 97227, USA.; Haber B; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.; Hachiya Y; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo 183-0042, Japan.; Abedi YH; Division of Allergy and Immunology, Northwell Health, Great Neck, NY 11021, USA; Departments of Medicine and Pediatrics, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11549, USA.; Hanebeck J; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.; Hehir-Kwa JY; Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, the Netherlands.; Horist B; Pediatrics & Genetics, Alpharetta, GA 30005, USA.; Itai T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.; Jackson A; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK.; Jewell R; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds LS7 4SA, UK.; Jones KL; Division of Medical Genetics & Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA 23507, USA.; Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.; Kashii H; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo 183-0042, Japan.; Kato M; Department of Pediatrics, Showa University School of Medicine, Shinagawa-ku, Tokyo 142-8666, Japan.; Kattentidt-Mouravieva AA; Zuidwester, 3240AA Middelharnis, the Netherlands.; Kok F; Mendelics Genomic Analysis, Sao Paulo, SP 04013-000, Brazil; University of Sao Paulo, School of Medicine, Sao Paulo, SP 01246-903, Brazil.; Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.; Krishnamurthy V; Pediatrics & Genetics, Alpharetta, GA 30005, USA.; Kučinskas V; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania.; Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.; Lavillaureix A; CHU Rennes, Univ Rennes, CNRS, IGDR, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, 35033 Rennes, France.; Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.; Manwaring L; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110-1093, USA.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.; Mazel B; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France.; McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Meiner V; Department of Genetics, Hadassah Medical Center, Hebrew University Medical Center, 91120 Jerusalem, Israel.; Mikati MA; Division of Pediatric Neurology, Duke University Medical Center, Durham, NC 27710, USA.; Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.; Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.; Moey LH; Department of Genetics, Penang General Hospital, Jalan Residensi, 10990 Georgetown, Penang, Malaysia.; Mohammed S; Clinical Genetics, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.; Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Hebrew University Medical Center, 91120 Jerusalem, Israel.; Mountford H; Department of Biological and Medical Sciences, Headington Campus, Oxford Brookes University, Oxford OX3 0BP, UK.; Newbury-Ecob R; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol BS2 8EG, UK.; Odent S; CHU Rennes, Univ Rennes, CNRS, IGDR, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, 35033 Rennes, France.; Orec L; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 5B2, Canada.; Palculict TB; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Parker M; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S5 7AU, UK.; Petersen AK; Department of Rehabilitation and Development, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, OR 97227, USA.; Pfundt R; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands.; Preikšaitienė E; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania.; Radtke K; Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA 92656, USA.; Ranza E; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; Medigenome, Swiss Institute of Genomic Medicine, 1207 Geneva, Switzerland.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Santiago-Sim T; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Schwager C; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.; Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center+, azM, 6202 AZ Maastricht, the Netherlands; Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, 6229 ER Maastricht, the Netherlands.; Snijders Blok L; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands.; Spillmann RC; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27713, USA.; Stegmann APA; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, azM, 6202 AZ Maastricht, the Netherlands.; Thiffault I; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.; Tran L; Division of Pediatric Neurology, Duke University Medical Center, Durham, NC 27710, USA.; Vaknin-Dembinsky A; Department of Neurology and Laboratory of Neuroimmunology, The Agnes Ginges Center for Neurogenetics, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, 91120 Jerusalem, Israel.; Vedovato-Dos-Santos JH; Mendelics Genomic Analysis, Sao Paulo, SP 04013-000, Brazil.; Schrier Vergano SA; Division of Medical Genetics & Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA.; Vilain E; Center for Genetic Medicine Research, Children's National Hospital, Children's Research Institute and Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20010, USA.; Vitobello A; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, 21070 Dijon, France.; Wagner M; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany.; Waheeb A; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 5B2, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.; Willing M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110-1093, USA.; Zuccarelli B; The University of Kansas School of Medicine Salina Campus, Salina, KS 67401, USA.; Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK.; Newbury DF; Department of Biological and Medical Sciences, Headington Campus, Oxford Brookes University, Oxford OX3 0BP, UK.; Kleefstra T; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands.; Reymond A; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.; Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands. Electronic address: simon.fisher@mpi.nl.; Vissers LELM; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands.

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

Alharatani R; Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK.; Paediatric Dentistry, Centre of Oral, Clinical and Translational Science, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE5 9RS, UK.; Ververi A; Department of Clinical Genetics, Great Ormond Street Hospital Trust, London WC1N 3JH, UK.; Beleza-Meireles A; Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK.; Department of Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London SE1 9RT, UK.; Ji W; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA.; Mis E; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA.; Patterson QT; Departments of Internal Medicine and Cell Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390-8856, USA.; Griffin JN; Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK.; Pediatric Genomics Discovery Program, Departments of Genetics and Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA.; Bhujel N; South Thames Cleft Service, Guy's and St. Thomas' NHS Foundation Trust, London SE1 7EH, UK.; Chang CA; Department of Medical Genetics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, AB, Canada.; Dixit A; Nottingham University Hospitals NHS Trust, Nottingham NG5 1PB, UK.; Konstantino M; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA.; Healy C; Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK.; Hannan S; Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK.; Neo N; Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK.; Tokyo Medical and Dental University, Tokyo, Japan.; Cash A; South Thames Cleft Service, Guy's and St. Thomas' NHS Foundation Trust, London SE1 7EH, UK.; Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Bhoj E; Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Zackai EH; Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Cleaver R; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.; Baralle D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK.; McEntagart M; Department of Clinical Genetics, St George's Hospital, London SW17 0RE, UK.; Newbury-Ecob R; Clinical Genetics, University Hospital Bristol NHS Foundation Trust, Bristol BS2 8EG, UK.; Scott R; Department of Clinical Genetics, Great Ormond Street Hospital Trust, London WC1N 3JH, UK.; Hurst JA; Department of Clinical Genetics, Great Ormond Street Hospital Trust, London WC1N 3JH, UK.; Au PYB; Department of Medical Genetics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, AB, Canada.; Hosey MT; Paediatric Dentistry, Centre of Oral, Clinical and Translational Science, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE5 9RS, UK.; Khokha M; Pediatric Genomics Discovery Program, Departments of Genetics and Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA.; Marciano DK; Departments of Internal Medicine and Cell Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390-8856, USA.; Lakhani SA; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA.; Liu KJ; Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral and Craniofacial Sciences, King's College London, London SE1 9RT, UK.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Martin R; Institute of Genetic Medicine, Newcastle upon Tyne, England. richard.martin11@nhs.net.; Splitt M; Institute of Genetic Medicine, Newcastle upon Tyne, England.; Genevieve D; Medical Genetics Department, Rare Diseases and Personalized Medicine, Montpellier University Hospital, Montpellier, France.; Aten E; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.; Collins A; Wessex Clinical Genetics, Princess Anne Hospital, Southampton, England.; de Bie CI; Division Biomedical Genetics, Genetics Department, University Medical Center Utrecht, Utrecht, Netherlands.; Faivre L; Centre de Génétique, Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Hôpital d'enfants, Dijon, France.; Foulds N; Wessex Clinical Genetics, Princess Anne Hospital, Southampton, England.; Giltay J; Division Biomedical Genetics, Genetics Department, University Medical Center Utrecht, Utrecht, Netherlands.; Ibitoye R; Wessex Clinical Genetics, Princess Anne Hospital, Southampton, England.; Joss S; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, Scotland.; Kennedy J; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, England.; Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Sciences Centre, Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester, Manchester, England.; Kivuva E; Peninsula Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, England.; Koopmans M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.; Newbury-Ecob R; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, England.; Jean-Marçais N; Centre de Génétique, Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Hôpital d'enfants, Dijon, France.; Peeters EAJ; Department of Child Neurology, HAGA/Juliana Children's Hospital, The Hague, Netherlands.; Smithson S; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, England.; Tomkins S; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, England.; Tranmauthem F; Centre de Génétique, Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Hôpital d'enfants, Dijon, France.; Piton A; Lab. de diagnostic génétique des HUS, Strasbourg, France.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Blok LS; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.; Rousseau J; CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.; Twist J; National Institute of Environmental Health Sciences, Research Triangle Park, NC, 27709, USA.; Ehresmann S; CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.; Takaku M; National Institute of Environmental Health Sciences, Research Triangle Park, NC, 27709, USA.; Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA.; Nowak CB; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA.; Douglas J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA.; Swoboda KJ; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.; Steeves MA; Department of Medical Genetics, Massachusetts General Hospital, Boston, MA, 02114, USA.; Sahai I; Department of Medical Genetics, Massachusetts General Hospital, Boston, MA, 02114, USA.; Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.; Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.; Wheeler P; Nemours Childrens Clinic, Orlando, FL, 32827, USA.; Willing M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Fiala E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Kochhar A; Valley Children's Hospital, Madera, CA, 93636, USA.; Gibson WT; British Columbia Children's Hospital Research Institute, Vancouver, BC, V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada.; Cohen ASA; British Columbia Children's Hospital Research Institute, Vancouver, BC, V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada.; Agbahovbe R; British Columbia Children's Hospital Research Institute, Vancouver, BC, V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, T2N 4N1, Canada.; Au PYB; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, T2N 4N1, Canada.; Rankin J; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust (Heavitree), Exeter, EX2 5DW, UK.; Anderson IJ; Division of Genetics, Department of Medicine, University of Tennessee Medical Center, Knoxville, TN, 37920, USA.; Skinner SA; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Louie RJ; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Warren HE; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Afenjar A; GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris ; Department of Medical Genetics and Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, Armand Trousseau Hospital, GHUEP, AP-HP, Paris, 75012, France.; Keren B; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.; Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, Paris, 75005, France.; Nava C; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.; Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, Paris, 75005, France.; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France.; Buratti J; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.; Isapof A; GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris 06; Department Child Neurology and Reference Center for Neuromuscular Diseases 'Nord/Est/Ile-de-France', FILNEMUS, Armand Trousseau Hospital, GHUEP, AP-HP, Paris, 75012, France.; Rodriguez D; GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris 06; Department of Child Neurology and National Reference Center for Neurogenetic Disorders, Armand Trousseau Hospital, GHUEP, AP-HP, INSERM U1141, 75012, Paris, France.; Lewandowski R; Clinical Genetics Division, Virginia Commonwealth University Health System, Richmond, VA, 23298, USA.; Propst J; Clinical Genetics Division, Virginia Commonwealth University Health System, Richmond, VA, 23298, USA.; van Essen T; Clinical Genetics Department, University Medical Center Groningen, Groningen, 9700RB, The Netherlands.; Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 08826, Republic of Korea.; Lee S; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 08826, Republic of Korea.; Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, 08826, Republic of Korea.; Price S; Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK.; Schnur RE; GeneDx, Gaithersburg, MD, 20877, USA.; Douglas G; GeneDx, Gaithersburg, MD, 20877, USA.; Wentzensen IM; GeneDx, Gaithersburg, MD, 20877, USA.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, 91054, Germany.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, 91054, Germany.; Bialer MG; Northwell Health, Division of Medical Genetics and Genomics, Great Neck NY, 11021, USA.; Moore C; Northwell Health, Division of Medical Genetics and Genomics, Great Neck NY, 11021, USA.; Koopmans M; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; Brilstra EH; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; Monroe GR; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; Newbury-Ecob R; University Hospitals Bristol, Department of Clinical Genetics, St Michael's Hospital, Bristol, BS2 8EG, UK.; Bownass L; University Hospitals Bristol, Department of Clinical Genetics, St Michael's Hospital, Bristol, BS2 8EG, UK.; Bader I; Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, A-5020, Austria.; Mayr JA; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, A-5020, Austria.; Wortmann SB; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, A-5020, Austria.; Institute of Human Genetics, Technische Universität München, Munich, 81675, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, 85764, Germany.; Jakielski KJ; Communication Sciences and Disorders, Augustana College, Rock Island, IL, 61201, USA.; Strand EA; Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA.; Kloth K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Germany.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Germany.; Roberts JD; National Institute of Environmental Health Sciences, Research Triangle Park, NC, 27709, USA.; Petrovich RM; National Institute of Environmental Health Sciences, Research Triangle Park, NC, 27709, USA.; Machida S; Waseda University, Tokyo, 169-8050, Japan.; Kurumizaka H; Waseda University, Tokyo, 169-8050, Japan.; Lelieveld S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Jansen S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.; Deriziotis P; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands.; Faivre L; Equipe Génétique des Anomalies du Développement, Université de Bourgogne- Franche Comté, Dijon, 21070, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, 21079, France.; Thevenon J; Equipe Génétique des Anomalies du Développement, Université de Bourgogne- Franche Comté, Dijon, 21070, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, 21079, France.; Assoum M; Equipe Génétique des Anomalies du Développement, Université de Bourgogne- Franche Comté, Dijon, 21070, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, 21079, France.; Shriberg L; Waisman Center, Phonology Project, Madison, WI, 53705-2280, USA.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.; Wade PA; National Institute of Environmental Health Sciences, Research Triangle Park, NC, 27709, USA.; Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands. simon.fisher@mpi.nl.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands. simon.fisher@mpi.nl.; Campeau PM; CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada. p.campeau@umontreal.ca.; Sainte-Justine Hospital, University of Montreal, Montreal, QC, H3T 1C5, Canada. p.campeau@umontreal.ca.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: PubMed not MEDLINE

Snijders Blok L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.; Rousseau J; CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.; Twist J; National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.; Ehresmann S; CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.; Takaku M; National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.; Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Nowak CB; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Douglas J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Swoboda KJ; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.; Steeves MA; Department of Medical Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.; Sahai I; Department of Medical Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.; Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.; Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.; Wheeler P; Nemours Childrens Clinic, Orlando, FL 32827, USA.; Willing M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.; Fiala E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.; Kochhar A; Valley Children's Hospital, Madera, CA 93636, USA.; Gibson WT; British Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.; Cohen ASA; British Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.; Agbahovbe R; British Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.; Au PYB; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.; Rankin J; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust (Heavitree), Exeter, EX2 5DW, UK.; Anderson IJ; Division of Genetics, Department of Medicine, University of Tennessee Medical Center, Knoxville, TN 37920, USA.; Skinner SA; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Warren HE; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Afenjar A; GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris ; Department of Medical Genetics and Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, Armand Trousseau Hospital, GHUEP, AP-HP, Paris, 75012, France.; Keren B; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.; Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, Paris, 75005, France.; Nava C; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.; Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, Paris, 75005, France.; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France.; Buratti J; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.; Isapof A; GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris 06; Department Child Neurology and Reference Center for Neuromuscular Diseases 'Nord/Est/Ile-de-France', FILNEMUS, Armand Trousseau Hospital, GHUEP, AP-HP, Paris, 75012, France.; Rodriguez D; GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris 06; Department of Child Neurology and National Reference Center for Neurogenetic Disorders, Armand Trousseau Hospital, GHUEP, AP-HP, INSERM U1141, 75012, Paris, France.; Lewandowski R; Clinical Genetics Division, Virginia Commonwealth University Health System, Richmond, VA 23298, USA.; Propst J; Clinical Genetics Division, Virginia Commonwealth University Health System, Richmond, VA 23298, USA.; van Essen T; Clinical Genetics Department, University Medical Center Groningen, Groningen, 9700RB, The Netherlands.; Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 08826, Republic of Korea.; Lee S; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 08826, Republic of Korea.; Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, 08826, Republic of Korea.; Price S; Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK.; Schnur RE; GeneDx, Gaithersburg, MD 20877, USA.; Douglas G; GeneDx, Gaithersburg, MD 20877, USA.; Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, 91054, Germany.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, 91054, Germany.; Bialer MG; Northwell Health, Division of Medical Genetics and Genomics, Great Neck, NY 11021, USA.; Moore C; Northwell Health, Division of Medical Genetics and Genomics, Great Neck, NY 11021, USA.; Koopmans M; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; Brilstra EH; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; Monroe GR; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; Newbury-Ecob R; University Hospitals Bristol, Department of Clinical Genetics, St Michael's Hospital, Bristol, BS2 8EG, UK.; Bownass L; University Hospitals Bristol, Department of Clinical Genetics, St Michael's Hospital, Bristol, BS2 8EG, UK.; Bader I; Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, A-5020, Austria.; Mayr JA; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, A-5020, Austria.; Wortmann SB; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, A-5020, Austria.; Institute of Human Genetics, Technische Universität München, Munich, 81675, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, 85764, Germany.; Jakielski KJ; Communication Sciences and Disorders, Augustana College, Rock Island, IL 61201, USA.; Strand EA; Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.; Kloth K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Germany.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Germany.; Roberts JD; National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.; Petrovich RM; National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.; Machida S; Waseda University, Tokyo, 169-8050, Japan.; Kurumizaka H; Waseda University, Tokyo, 169-8050, Japan.; Lelieveld S; 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Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE