부산대학교 도서관

Alkotob, Shifaa ; Hertel, Paula Marie ; Galvan, Nhu Thao Nguyen ; Sutton, Vernon R ; Nicholas, Sarah

In Clinical Immunology May 2024 262 Supplement

Al-Samkari, Hanny ; Kasthuri, Raj S. ; Iyer, Vivek ; Pishko, Allyson M ; Decker, Jake E ; Whitehead, Kevin J ; Conrad, Miles B ; Weiss, Clifford ; Parambil, Joseph ; Zumberg, Marc Stuart ; Zhou, Jenny Y ; Boyer, Holly C ; Sutton, Vernon R ; Mazepa, Marshall ; Bradley, Lauren ; Clancy, Marianne S. ; Wisniewski, Lisa ; Carper, Benjamin ; Catellier, Diane ; Thomas, Sonia M ; McCrae, Keith R.

In Blood 21 November 2023 142 Supplement 2

Gana, Simone; Veggiotti, Pierangelo; Sciacca, Giusy; Fedeli, Cristina; Bersano, Anna; Micieli, Giuseppe; Maghnie, Mohamad; Ciccone, Roberto; Rossi, Elena; Plunkett, Katie; Bi, Weimin; Sutton, Vernon R; Zuffardi, Orsetta

European Journal of Human Genetics. Aug2012, Vol. 20 Issue 8, p852-856. 5p. 1 Color Photograph, 1 Diagram, 1 Chart, 1 Graph.

Agarwal S; Nationwide Children's Hospital, Department of Pediatric Hematology-Oncology, Columbus, Ohio, USA.; Mehollin-Ray A; Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Division of Radiology, Houston, Texas, USA.; Sutton VR; Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Division of Molecular and Human Genetics, Houston, Texas, USA.; Iacobas I; Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Division of Pediatric Hematology-Oncology, Houston, Texas, USA.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Farmer CA; Cristan A. Farmer, National Institute of Mental Health.; Kaat AJ; Aaron J. Kaat, Northwestern University.; Thurm A; Audrey Thurm, National Institute of Mental Health.; Anselm I; Irina Anselm, Boston Children's Hospital and Harvard University.; Akshoomoff N; Natacha Akshoomoff, University of California San Diego.; Bennett A; Amanda Bennett, Children's Hospital of Philadelphia.; Berry L; Leandra Berry, Baylor College of Medicine.; Bruchey A; Aleksandra Bruchey, Lumos Pharma, Inc.; Barshop BA; Bruce A. Barshop, University of California San Diego.; Berry-Kravis E; Elizabeth Berry-Kravis, Rush University.; Bianconi S; Simona Bianconi, Eunice Kennedy Shriver National Institute of Child Health and Human Development.; Cecil KM; Kim M. Cecil, University of Cincinnati.; Davis RJ; Robert J. Davis, Lumos Pharma, Inc.; Ficicioglu C; Can Ficicioglu, Children's Hospital of Philadelphia and University of Pennsylvania.; Porter FD; Forbes D. Porter, Eunice Kennedy Shriver National Institute of Child Health and Human Development.; Wainer A; Allison Wainer, Rush University.; Goin-Kochel RP; Robin P. Goin-Kochel, Baylor College of Medicine.; Leonczyk C; Caroline Leonczyk, Rush University.; Guthrie W; Whitney Guthrie, Children's Hospital of Philadelphia.; Koeberl D; Dwight Koeberl, Duke University.; Love-Nichols J; Jamie Love-Nichols, Boston Children's Hospital and Harvard University.; Mamak E; Eva Mamak, The Hospital for Sick Children.; Mercimek-Andrews S; Saadet Mercimek Andrews, University of Toronto, The Hospital for Sick Children, ON.; Thomas RP; Rebecca P. Thomas, Children's Hospital of Philadelphia.; Spiridigliozzi GA; Gail A. Spiridigliozzi, Duke University.; Sullivan N; Nancy Sullivan, Boston Children's Hospital and Harvard Medical School.; Sutton VR; Vernon R. Sutton, Baylor College of Medicine.; Udhnani MD; Manisha D. Udhnani, Children's Hospital of Philadelphia.; Waisbren SE; Susan E. Waisbren, Boston Children's Hospital and Harvard University.; Miller JS; Judith S. Miller, University of Pennsylvania.

Publisher: American Association on Intellectual and Developmental Disabilities Country of Publication: United States NLM ID: 101492916 Publication Model: Print Cited Medium: Internet ISSN: 1944-7558 (Electronic) Linking ISSN: 19447558 NLM ISO Abbreviation: Am J Intellect Dev Disabil Subsets: MEDLINE

Machol K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Hadley TD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Schmidt J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Cuthbertson D; College of Medicine, University of South Florida, Tampa, Florida.; Traboulsi H; Department of Otolaryngology-Head and Neck Surgery, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Silva RC; Department of Otolaryngology-Head and Neck Surgery, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Citron C; Department of Pediatric Orthopedic Surgery, Hospital for Special Surgery, New York, New York.; Khan S; Department of Pediatric Orthopedic Surgery, Hospital for Special Surgery, New York, New York.; Citron K; Department of Pediatric Orthopedic Surgery, Hospital for Special Surgery, New York, New York.; Carter E; Department of Pediatric Orthopedic Surgery, Hospital for Special Surgery, New York, New York.; Brookler K; Department of Pediatric Orthopedic Surgery, Hospital for Special Surgery, New York, New York.; Shapiro JR; Department of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institute, Baltimore, Maryland.; Department of Medicine at Uniformed Services, University of the Health Sciences, Bethesda, Maryland.; Steiner RD; University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.; Pediatrics and Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon.; Byers PH; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle.; Department of Pathology, Division of Medical Genetics, University of Washington, Seattle.; Glorieux FH; Shriner's Hospital for Children and McGill University, Montreal, Quebec, Canada.; Durigova M; Shriner's Hospital for Children and McGill University, Montreal, Quebec, Canada.; Smith P; Motion Analysis Laboratory, Shriners Hospitals for Children, Chicago, Illinois.; Bober MB; Division of Orthogenetics, Alfred I. duPont Hospital for Children, Wilmington, Delaware.; Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Lee BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Raggio C; Department of Pediatric Orthopedic Surgery, Hospital for Special Surgery, New York, New York.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Nellåker C; Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, United Kingdom.; Big Data Institute, University of Oxford, Oxford, United Kingdom.; Institute for Biomedical Engineering, University of Oxford, Oxford, United Kingdom.; Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Baynam G; Western Australian Register of Developmental Anomalies, and Genetic Services of Western Australia, King Edward Memorial, Subiaco, WA, Australia.; Telethon Kids Institute and School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.; Spatial Sciences, Science and Engineering, Curtin University, Perth, WA, Australia.; Bernier RA; Department of Psychiatry & Behavioral Science, University of Washington School of Medicine, Seattle, WA, United States.; Bernier FPJ; Alberta Children's Hospital Research Institute, Calgary, AB, Canada.; Boulanger V; National Organization for Rare Disorders, Danbury, CT, United States.; Brudno M; Department of Computer Science, University of Toronto and the Hospital for Sick Children, Toronto, Canada.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Clayton-Smith J; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, United Kingdom.; Cogné B; CHU Nantes, Service de Génétique Médicale, Nantes, France.; Dawkins HJS; Office of Population Health Genomics, Public and Aboriginal Health Division, Department of Health Government of Western Australia, Perth, WA, Australia.; Sir Walter Murdoch School of Policy and International Affairs, Murdoch University.; Centre for Population Health Research, Curtin University of Technology, Perth, WA, Australia.; deVries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Douzgou S; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, United Kingdom.; Dudding-Byth T; Hunter Genetics, Waratah, NSW, Australia.; Eichler EE; Department of Genome Science, University of Washington School of Medicine, Seattle, WA, United States.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, United States.; Ferlaino M; Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, United Kingdom.; Big Data Institute, University of Oxford, Oxford, United Kingdom.; Fieggen K; Division of Human Genetics, Level 3, Wernher and Beit North, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Observatory, South Africa.; Firth HV; Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom.; FitzPatrick DR; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.; Gration D; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia.; Groza T; The Garvan Institute, Sydney, NSW, Australia.; Haendel M; Oregon Health & Science University, Portland, OR, United States.; Hallowell N; Big Data Institute, University of Oxford, Oxford, United Kingdom.; Wellcome Centre for Ethics and Humanities, University of Oxford, Oxford, United Kingdom.; Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom.; Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, United States.; Hehir-Kwa J; Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands.; Hitz MP; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein-Campus Kiel, Kiel, Germany.; Hughes M; Department of Clinical Neurosciences, Western General Hospital, Edinburgh, United Kingdom.; Kini U; Oxford Centre for Genomic Medicine, Oxford, United Kingdom.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Krawitz P; Institut für Genomische Statistik und Bioinformatik, Universitätsklinikum Bonn, Rheinische-Friedrich-Wilhelms-Universität, Bonn, Germany.; Küry S; CHU Nantes, Service de Génétique Médicale, Nantes, France.; Lees M; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Lyon GJ; George A. Jervis Clinic and Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, NY, United States.; Lyonnet S; Imagine Institute, Paris, France.; Marcadier JL; Alberta Children's Hospital Research Institute, Calgary, AB, Canada.; Meyn S; Department of Computer Science, University of Toronto and the Hospital for Sick Children, Toronto, Canada.; Moslerová V; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and University Hospital, Prague, Czechia.; Politei JM; Laboratorio Chamoles, Errores Congénitos del Metabolismo, Buenos Aires, Argentina.; Poulton CC; Department of Paediatrics and Neonates, Fiona Stanley Hospital, Perth, WA, Australia.; Raymond FL; CIMR (Wellcome Trust/MRC Building), Cambridge, United Kingdom.; Reijnders MRF; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.; Robinson PN; The Jackson Laboratory, Farmington, CT, United States.; Romano C; Oasi Research Institute-IRCCS, Troina, Italy.; Rose CM; Victorian Clinical Genetics Service and Murdoch Childrens Research Institute, The Royal Children's Hospital, Parkville, VIC, Australia.; Sainsbury DCG; Northern & Yorkshire Cleft Lip and Palate Service, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom.; Schofield L; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia.; Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.; Turnovec M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and University Hospital, Prague, Czechia.; Van Dijck A; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, University of Leuven, Leuven, Belgium.; Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, United Kingdom.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Rossetti LZ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Glinton K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics, Houston, Texas.; Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics, Houston, Texas.; Pillai N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Mizerik E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Magoulas P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Karaviti L; Division of Pediatric Endocrinology, Baylor College of Medicine, Houston, Texas.; Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Al-Gadi, Iman; Merchant, Nadia; Relan, Shilpi; Sutton, Vernon R; Tu, Duong; Paul, David; Karaviti, Lefkothea

J Endocr Soc

Suresh, Deepa; Crawford, Jessica; Axelrad, Marni E; Gunn, Sheila K; McCullough, Laurence; Smith, O'Brian; Sutton, Vernon R; Roth, David; Karaviti, Lefkothea P; Dietrich, Jennifer E

International Journal of Pediatric Endocrinology. March 14, 2013, Vol. 2013 Issue 1

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.

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

Cheng H; Baylor Genetics, Houston, TX, 77021, USA.; Dharmadhikari AV; Baylor Genetics, Houston, TX, 77021, USA.; Varland S; Department of Biomedicine, University of Bergen, N-5020 Bergen, Norway; Department of Surgery, Haukeland University Hospital, N-5021 Bergen, Norway.; Ma N; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Division of Cardiology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA; Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.; Domingo D; School of Biological Sciences, Faculty of Genes and Evolution, the University of Adelaide, Adelaide, SA 5000, Australia.; Kleyner R; Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA.; Rope AF; Department of Medical Genetics, Kaiser Permanente Northwest, Portland, OR 97227, USA.; Yoon M; Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA.; Stray-Pedersen A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, N-0424 Oslo, and Institute of Clinical Medicine, University of Oslo, N-0318 Oslo, Norway.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Crews SR; Department of Pharmacology, Creighton University Medical School, Omaha, NE, 68178, USA.; Eldomery MK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA.; Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Conboy E; Department of Clinical Genomics, Mayo Clinic, MN 55905, USA.; Agre K; Department of Clinical Genomics, Mayo Clinic, MN 55905, USA.; Xia F; Baylor Genetics, Houston, TX, 77021, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Walkiewicz M; Baylor Genetics, Houston, TX, 77021, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; The National Institute of Allergy and Infectious Disease, The National Institutes of Health, Bethesda, MD 20892, USA.; Longoni M; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Surgery, Harvard Medical School, Boston, MA 02114, USA.; High FA; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Pediatrics, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Surgery, Boston Children's Hospital, Boston, MA 02115, USA.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.; Mancini GMS; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.; Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333, The Netherlands.; den Hollander N; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333, The Netherlands.; Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333, The Netherlands.; Naidu S; Kennedy Krieger Institute, 801 North Broadway Baltimore, MD 21205, USA.; Mahida S; Kennedy Krieger Institute, 801 North Broadway Baltimore, MD 21205, USA.; Palmer EE; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia; School of Women's and Children's Health, University of New South Wales, Sydney, NSW 2031, Australia.; Murray L; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.; Lim D; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Mindelsohn Way, Birmingham B15 2TG, UK.; Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL 33155, USA.; Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK.; Giusto S; Oasi Research Institute - Istituto di Ricovero e Cura a Carattere Scientifico, Troina 94018, Italy.; Stracuzzi E; Oasi Research Institute - Istituto di Ricovero e Cura a Carattere Scientifico, Troina 94018, Italy.; Romano C; Oasi Research Institute - Istituto di Ricovero e Cura a Carattere Scientifico, Troina 94018, Italy.; Beighley JS; Department of Psychiatry, University of Washington, Seattle WA, 98195, USA.; Bernier RA; Department of Psychiatry, University of Washington, Seattle WA, 98195, USA.; Küry S; Department of Medical Genetics, Centre Hospitalier Universitaire, Nantes 44093, France.; Nizon M; Department of Medical Genetics, Centre Hospitalier Universitaire, Nantes 44093, France.; Corbett MA; Adelaide Medical School and Robinson Research Institute, the University of Adelaide, Adelaide, SA 5000, Australia.; Shaw M; Adelaide Medical School and Robinson Research Institute, the University of Adelaide, Adelaide, SA 5000, Australia.; Gardner A; Adelaide Medical School and Robinson Research Institute, the University of Adelaide, Adelaide, SA 5000, Australia.; Barnett C; Paediatric and Reproductive Genetics, South Australian Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), Adelaide, SA 5006, Australia.; Armstrong R; East Anglian Medical Genetics Service, Clinical Genetics, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.; Kassahn KS; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, SA 5006, Australia; School of Biological Sciences, University of Adelaide, Adelaide, SA 5000, Australia.; Van Dijck A; Department of Medical Genetics, University of Antwerp, Antwerp 2000, Belgium.; Vandeweyer G; Department of Medical Genetics, University of Antwerp, Antwerp 2000, Belgium.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands.; Schieving J; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands.; Jongmans MJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands.; de Vries BBA; 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.; Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9PL, UK; Division of Evolution and Genomic Sciences School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK.; Rojas SK; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Person R; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Willaert R; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.; Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp 2000, Belgium.; Yang Y; Baylor Genetics, Houston, TX, 77021, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Wu JC; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Division of Cardiology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA; Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center of Baylor College of Medicine, Houston, TX 77030, USA.; Arnesen T; Department of Biomedicine, University of Bergen, N-5020 Bergen, Norway; Department of Surgery, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Molecular Biology, University of Bergen, N-5020 Bergen, Norway.; Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY 10032, USA.; Gecz J; School of Biological Sciences, Faculty of Genes and Evolution, the University of Adelaide, Adelaide, SA 5000, Australia; Adelaide Medical School and Robinson Research Institute, the University of Adelaide, Adelaide, SA 5000, Australia; Healthy Mothers, Babies and Children, South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia.; Stessman HAF; Department of Pharmacology, Creighton University Medical School, Omaha, NE, 68178, USA.; Meng L; Baylor Genetics, Houston, TX, 77021, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: lmeng@bcm.edu.; Lyon GJ; Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address: gholsonjlyon@gmail.com.

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

Küry S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France. Electronic address: sebastien.kury@chu-nantes.fr.; van Woerden GM; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands.; Besnard T; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.; Proietti Onori M; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands.; Latypova X; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.; Towne MC; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Gene Discovery Core, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Cho MT; GeneDx, Gaithersburg, MD 20877, USA.; Prescott TE; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Ploeg MA; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands.; Sanders S; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.; Stessman HAF; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Department of Pharmacology, Creighton University Medical School, Omaha, NE 68178, USA.; Pujol A; Neurometabolic Diseases Laboratory, IDIBELL, Gran Via, 199, L'Hospitalet de Llobregat, 08908 Barcelona, and CIBERER U759, Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain; Catalan Institution of Research and Advanced Studies (ICREA), 08010 Barcelona, Spain.; Distel B; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; Department of Medical Biochemistry, Academic Medical Center, University of Amsterdam, 1105AZ Amsterdam, the Netherlands.; Robak LA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Denommé-Pichon AS; CHU Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; UMR INSERM 1083 - CNRS 6015, 49933 Angers Cedex 9, France.; Lesca G; Service de génétique, Centre de Référence des Anomalies du Développement, Hospices Civils de Lyon, 69288 Lyon, France; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, 69675 Bron, France.; Sellars EA; Section of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, AR 72202, USA.; Berg J; Molecular and Clinical Medicine, School of Medicine, University of Dundee, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK.; Carré W; Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France.; Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; van Bon BWM; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, the Netherlands.; Waugh JL; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Deardorff M; Department of Pediatrics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Hoganson GE; Department of Pediatrics, University of Illinois at Chicago, College of Medicine, Chicago, IL 60612, USA.; Bosanko KB; Section of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, AR 72202, USA.; Johnson DS; Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK.; Dabir T; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK.; Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Sarkar A; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; de Bellescize J; Epilepsy, Sleep and Pediatric Neurophysiology Department, Hospices Civils, Lyon, 69677 Bron, France.; Braathen GJ; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.; Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, MO 63110, USA.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center (LUMC), 2333 ZA Leiden, the Netherlands.; Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, WA 98105, USA.; Mirzaa G; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, WA 98105, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Burton J; Department of Pediatrics, University of Illinois at Chicago, College of Medicine, Chicago, IL 60612, USA.; Bhoj EJ; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Douglas J; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Santani AB; Division of Genomic Diagnostics, Department of Path and Lab Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Path and Lab Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104-4238, USA.; Nesbitt AI; Division of Genomic Diagnostics, Department of Path and Lab Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Helbig KL; Division of Clinical Genomics, Ambry Genetics, 15 Argonaut, Aliso Viejo, CA 92656, USA; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Andrews MV; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, MO 63110, USA.; Begtrup A; GeneDx, Gaithersburg, MD 20877, USA.; Tang S; Division of Clinical Genomics, Ambry Genetics, 15 Argonaut, Aliso Viejo, CA 92656, USA.; van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.; Juusola J; GeneDx, Gaithersburg, MD 20877, USA.; Foss K; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Enns GM; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Moog U; Institute of Human Genetics, University Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.; Hinderhofer K; Institute of Human Genetics, University Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.; Paramasivam N; Medical Faculty Heidelberg, Heidelberg University, 69120 Heidelberg, Germany and Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120 Heidelberg, Germany.; Lincoln S; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Kusako BH; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Lindenbaum P; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France; CHU Nantes, l'institut du thorax, 44093 Nantes, France.; Charpentier E; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France; CHU Nantes, l'institut du thorax, 44093 Nantes, France.; Nowak CB; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Cherot E; Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France.; Simonet T; Epilepsy, Sleep and Pediatric Neurophysiology Department, Hospices Civils, Lyon, 69677 Bron, France.; Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center (LUMC), 2333 ZA Leiden, the Netherlands.; Hahn S; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, WA 98105, USA.; Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Gene Discovery Core, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77030, USA.; Schmitt S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.; Deb W; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.; Bonneau D; CHU Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; UMR INSERM 1083 - CNRS 6015, 49933 Angers Cedex 9, France.; Nizon M; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.; Quinquis D; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.; Chelly J; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, 67091 Strasbourg, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 67000 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch, France.; Rudolf G; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 67000 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch, France; Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex, France.; Sanlaville D; Service de génétique, Centre de Référence des Anomalies du Développement, Hospices Civils de Lyon, 69288 Lyon, France; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, 69675 Bron, France.; Parent P; CHRU Brest, Génétique médicale, 29609 Brest, France.; Gilbert-Dussardier B; CHU Poitiers, Service de Génétique, BP577, 86021 Poitiers, France; EA 3808 Université Poitiers, France.; Toutain A; CHU Tours, Service de Génétique, 2 Boulevard Tonnellé, 37044 Tours, France.; Sutton VR; Baylor Genetics, Houston, TX 77030, USA.; Thies J; Division of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital, Seattle, WA 98105, USA.; Peart-Vissers LELM; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, the Netherlands.; Boisseau P; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.; Vincent M; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.; Grabrucker AM; Department of Biological Sciences, University of Limerick, Limerick V94 T9PX, Ireland; Bernal Institute, University of Limerick, Limerick V94 T9PX, Ireland.; Dubourg C; Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France.; Tan WH; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Verbeek NE; Department of Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.; Granzow M; Institute of Human Genetics, University Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center (LUMC), 2333 ZA Leiden, the Netherlands.; Shendure J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA.; Isidor B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.; Pasquier L; CHU Rennes, Service de Génétique Clinique, CNRS UMR6290, Université Rennes1, 35203 Rennes, France.; Redon R; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France; CHU Nantes, l'institut du thorax, 44093 Nantes, France.; Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77030, USA.; State MW; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.; Kleefstra T; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, the Netherlands.; Cogné B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.; Petrovski S; Department of Medicine, The University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, VIC 3010, Australia.; Retterer K; GeneDx, Gaithersburg, MD 20877, 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.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Gene Discovery Core, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Bézieau S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France; CRCINA, Inserm, Université d'Angers, Université de Nantes, 44000 Nantes, France.; Odent S; CHU Rennes, Service de Génétique Clinique, CNRS UMR6290, Université Rennes1, 35203 Rennes, France.; Elgersma Y; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands. Electronic address: y.elgersma@erasmusmc.nl.; Mercier S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Wong BK; Department of Obstetrics and GynecologyBaylor College of MedicineHoustonTexas; Jan and Dan Duncan Neurological Research InstituteTexas Children's HospitalHoustonTexas.; Sutton VR; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas.; Lewis RA; Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTexas; Department of MedicineBaylor College of MedicineHoustonTexas; Department of PediatricsBaylor College of MedicineHoustonTexas; Department of OphthalmologyBaylor College of MedicineHoustonTexas.; Van den Veyver IB; Department of Obstetrics and GynecologyBaylor College of MedicineHoustonTexas; Jan and Dan Duncan Neurological Research InstituteTexas Children's HospitalHoustonTexas; Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTexas.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: eCollection Cited Medium: Print ISSN: 2324-9269 (Print) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: PubMed not MEDLINE

Agadi S; Section of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. agadi@bcm.tmc.edu; Sutton VR; Quach MM; Riviello JJ Jr

Publisher: Sage Publications Country of Publication: United States NLM ID: 101213033 Publication Model: Print Cited Medium: Print ISSN: 1550-0594 (Print) Linking ISSN: 15500594 NLM ISO Abbreviation: Clin EEG Neurosci Subsets: MEDLINE

Iacobas I; Department of Pediatrics, Section of Hematology Oncology, Saint Peter's University Hospital, New Brunswick, New Jersey 08901, USA. iiacobas@saintpetersuh.com; Burrows PE; Adams DM; Sutton VR; Hollier LH; Chintagumpala MM

Publisher: John Wiley Country of Publication: United States NLM ID: 101186624 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-5017 (Electronic) Linking ISSN: 15455009 NLM ISO Abbreviation: Pediatr Blood Cancer Subsets: MEDLINE

Dhar SU; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. dhar@bcm.edu; Taylor T; Trinh C; Sutton VR

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Yang SY; Department of Neurochemistry, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA. syang@mail.csi.cuny.edu; He XY; Olpin SE; Sutton VR; McMenamin J; Philipp M; Denman RB; Malik M

Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

Shinawi M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.; Shao L; Jeng LJ; Shaw CA; Patel A; Bacino C; Sutton VR; Belmont J; Cheung SW

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Ou Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.; Berg JS; Yonath H; Enciso VB; Miller DT; Picker J; Lenzi T; Keegan CE; Sutton VR; Belmont J; Chinault AC; Lupski JR; Cheung SW; Roeder E; Patel A

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE