GENETICS IN MEDICINE

作者Kevin T. Mintz; Elisa N. Altamirano; Meghan C. Halley; Krysta S. Barton; Mildred K. Cho; Jonathan A. Bernstein; Jennefer N. Carter; Holly K. Tabor

作者单位Stanford Department of Pediatrics, Stanford School of Medicine, Stanford, CA; The Laurie J. Girand Center for Biomedical Ethics, Stanford School of Medicine, Stanford, CA; Department of Medicine, Stanford School of Medicine, Stanford, CA; Center for Undiagnosed Diseases, Stanford School of Medicine, Stanford, CA

作者Nenad Blau; Nastassja Himmelreich

作者单位Division of Metabolism, University Children’s Hospital Zürich, Zürich, Switzerland; Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, Department I, University Children’s Hospital, Heidelberg, BW, Germany; Zentrum für Humangenetik Tübingen, Tübingen, BW, Germany

作者David E. Godler; Ling Ling; Dinusha Gamage; Minh Bui; Michael J. Field; David J. Amor

作者单位Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia; Murdoch Children’s Research Institute, Royal Children’s Hospital, Parkville, VIC, Australia; Department of Pediatrics, Monash University, Clayton, VIC, Australia; E.D.G. Innovations and Consulting, St Kilda, VIC, Australia; Centre for Epidemiology & Biostatistics, Melbourne School of Population & Global Health, University of Melbourne, Carlton, VIC, Australia; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia

作者Raquel van Gool; Nehal Shah; Amanda Cao; Lise Vrolix; Buket Sonbas Cobb; Benjamin Goodlett; Georgina Johnson; Hanne van der Heijden; Merve Koç Yekedüz; Carlos Camelo; Julie Shulman; Adam P. Vogel; M. Valerie Stein; Hawa Sakho; David Kronn; Nick Todd; Olaf Bodamer; Seward Rutkove; Walla Al-Hertani; Jaymin Upadhyay

作者单位Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA; Department of Neurology, Mental Health and Neuroscience Research Institute, Maastricht University, Maastricht, Limburg, The Netherlands; Department of Radiology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA; Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA; Department of Electrical and Electronic Engineering, Harran University, Şanlıurfa, Turkey; Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, Boston, MA; Department of Audiology and Speech Pathology, The University of Melbourne, Parkville, Victoria, Australia; Department of Pediatric Metabolism, Ankara University, Faculty of Medicine, Ankara, Turkey; Department of Physical and Occupational Therapy, Boston Children’s Hospital, Boston, MA; Redenlab Pty Ltd, Melbourne, Victoria, Australia; Department of Pathology and Pediatrics, New York Medical College, Valhalla, NY; Division of Metabolic Disorders, Children's Hospital of Orange County, Rady Children's Health, Orange, CA

作者Yuwei Shi; Ananilia Silva; Christophe Debuy; Sourav Ghosh; Haley McConkey; Rachel Schot; Ruizhi Deng; Anita Nikoncuk; Marjon van Slegtenhorst; Lies H. Hoefsloot; Tjakko J. van Ham; Brittany N. Simpson; Dana Miller; Nishitha R. Pillai; Muriel Holder-Espinasse; Berta Almoguera; Fiona Blanco-Kelly; Virginia Clowes; Grace Yoon; Berrin Monteleone; Jaime Vasquez; Rubén Pérez de la Fuente; Sara Bellido-Cuéllar; Ursino Barrios-Machain; Yolanda Moreno-Sáez; Katharina Steindl; Anais Begemann; Anita Rauch; Tiffany Busa; Svetlana Gorokhova; Shenela Lakhani; Zachary Grinspan; Aurore Garde; Frederic Tran Mau Them; Ange-Line Bruel; Julian Delanne; Hana Safraou; Estelle Colin; Aditi Shah Parikh; Anne Slavotinek; Patrick Devine; Amelle Shillington; Arthur Sorlin; Didier Menzies; Lakshmi Mehta; Charlotte Close; Caleb Heid; Syed Ajaz Ahmed; Adriana Gomes; Lynne M. Bird; Erfan Aref-Eshghi; Kelly J. Cardona-Londoño; Stefan T. Arold; Jing-Mei Li; Tzung-Chien Hsieh; Tjitske Kleefstra; Kristina Lanko; Bekim Sadikovic; Tahsin Stefan Barakat

作者单位Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Center for Experimental Neurotherapeutics, St. Jude Children’s Research Hospital, Department of Pediatrics, University of Tennessee Health Science Center, Le Bonheur Children’s Hospital, Memphis, TN; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, MN; Department of Clinical Genetics, Guy's Hospital London, London, United Kingdom; Department of Genetics and Genomics. Fundación Jiménez Díaz University Hospital & Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain; CIBERER (Biomedical Research Network Center for Rare Diseases), Carlos III Health Institute (ISCIII), Madrid, Spain; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, London, United Kingdom; Section of Genetics and Genomics, Department of Metabolism Digestion and Reproduction, Faculty of Medicine, Imperial College, London, United Kingdom; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; Division of Clinical Genetics, NYU Grossman Long Island School of Medicine, Garden City, New York, NY; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain; Group of Rare, Mitochondrial and Neuromuscular Diseases (RMND), 12 de Octubre University Hospital Research Institute (i+12), Madrid, Spain; UDISGEN (Dysmorphology and Genetics Unit), 12 de Octubre University Hospital, Madrid, Spain; Epilepsy-vEEG Unit, Neurology Department, 12 Octubre University Hospital, Madrid, Spain; Department of Pediatric Endocrinology, 12 Octubre University Hospital, Madrid, Spain; University of Zurich, Institute of Medical Genetics, Wagistrasse 12, Schlieren, Switzerland; University Children’s Hospital Zurich, Zurich, Switzerland; Medical Genetics Department, Timone Children’s Hospital, APHM, Marseille, France; Aix Marseille Univ, INSERM, Marseille Medical Genetics, U1251, Marseille, France; Center for Neurogenetics, Weill Cornell Medicine, New York, NY; Department of Pediatrics, Weill Cornell Medicine, New York, NY; Centre de Génétique, CRMRs "Anomalies du Développement et syndromes malformatifs" et "Déficiences Intellectuelles de causes rares", "GenoPsy" et "Neurogène", FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire – Inserm UMR1231 équipe GAD, Dijon, France; Center for Human Genetics, University Hospitals Cleveland Medical Center and Case Western Reserve University School of Medicine, Cleveland, OH; Department of Pediatrics, University of California San Francisco, San Francisco, CA; Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio; Clinical Genetics unit, National Center of Genetics, Laboratoire national de santé, Dudelange, Luxembourg; Foetopathologie, National Center of Pathologie, Laboratoire national de santé, Dudelange, Luxembourg; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY; Department of Pathology, University of Missouri, Columbia, MO; Department of Clinical Genetics, Southern California Kaiser Permanente, Los Angeles, CA; Department of Pediatrics, University of California San Diego, San Diego, CA; Division of Genetics/Dysmorphology, Rady Children’s Hospital San Diego, San Diego, CA; GeneDx, LLC, Gaithersburg, MD; Bioscience Program, Biological and Environmental Science and Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia; Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, Montpellier, France; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany

作者Rémy A. Furrer; Aayushi Gandhi; Dorit Barlevy; Shai Carmi; Todd Lencz; Stacey Pereira; Gabriel Lázaro-Muñoz

作者单位Department of Neurosurgery, Massachusetts General Hospital, Boston, MA; Harvard Medical School, Boston, MA; Stanford University, Stanford, CA; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX; Braun School of Public Health and Community Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel; Institute of Behavioral Science, The Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY; Departments of Psychiatry and Molecular Medicine, Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY; Division of Research, Department of Psychiatry, The Zucker Hillside Hospital Division of Northwell Health, Glen Oaks, NY; Department of Psychiatry, Massachusetts General Hospital, Boston, MA

作者Toni Tagimacruz; Trevor Adam Seeger; Koen Degeling; Katharine Fooks; Viji Venkataramanan; Francois P. Bernier; Kym M. Boycott; Roberto Mendoza-Londono; Taila Hartley; Robin Z. Hayeems; Deborah A. Marshall

作者单位Department of Community Health Sciences, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Cancer Health Services Research, Centre for Health Policy & Centre for Cancer Research, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Australia; Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada; Department of Medical Genetics, University of Calgary, AB, Canada; One Child Every Child, University of Calgary, Calgary, AB, Canada; Alberta Children’s Hospital Research Institute, University of Calgary, Calgary, AB, Canada; Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa Ottawa, ON, Canada; Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; Institute of Health Policy, Management and Evaluation, The University of Toronto, Toronto, ON, Canada

作者Joseph K. Aicher; Dina Issakova; Barry Slaff; San Jewell; Nicholas F. Lahens; Gregory R. Grant; Diana Baralle; Jill A. Rosenfeld; Daryl A. Scott; Elizabeth J. Bhoj; Yoseph Barash

作者单位Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA; Department of Biology, School of Arts and Sciences, University of Pennsylvania, Philadelphia, PA; Department of Computer and Information Sciences, School of Engineering, University of Pennsylvania, Philadelphia, PA; Faculty of Medicine, University of Southampton, Southampton, United Kingdom; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Children’s Hospital of Philadelphia, Philadelphia, PA

作者Lacey Smith; Emily Bonkowski; Anna Prentice; Stacey Cohen; Laina Lusk; Shridhar Parthasarathy; Brendan Burns; Elizabeth Butler; Yanmin Chen; Kathleen Dady; Sarah Dugger; Alexander Ing; Rhonda Lassiter; David Lewis-Smith; Maureen Mulhern; Jimmy N.H. Nguyen; Jonathan Olival; Samin A. Sajan; Christopher H. Thompson; Alfred L. George; Jacy Wagnon; Katie Yergert; Jan H. Magielski; Jillian L. McKee; Erin Riggs; Kimberly Wiltrout; Annapurna Poduri; Ingo Helbig; Heather C. Mefford

作者单位Department of Neurology, Boston Children’s Hospital, Boston, MA; Center for Pediatric Neurological Disease Research, Department of Cell & Molecular Biology, St Jude Children’s Research Hospital, Memphis, TN; Department of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA; Division of Translational Medicine and Human Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA; QIAGEN, Germantown, MD; GeneDx, Gaithersburg, MD; Labcorp, San Francisco, CA; Ambry Genetics, 1 Enterprise Aliso Viejo, CA; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL; Neurology Department, North Bristol Trust, Southmead Hospital Bristol, Bristol, United Kingdom; Department of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY; Department of Pathology and Cell Biology, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Laboratory of Neurogenetics and Molecular Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL; Department of Neuroscience, Ohio State University Wexner Medical Center, Columbus, OH; Autism & Developmental Medicine Institute, Geisinger, Danville, PA

作者Ramy Saad; Clementina Cobolli Gigli; Pleuntje J. van der Sluijs; Jon R. Wilson; Tzung-Chien Hsieh; Vivienne P.M. McConnell; Carlos A. Bacino; Lynne M. Bird; Shelin Adam; Lorne Clarke; Jan M. Cobben; André M. Travessa; Laurence Faivre; Stense Farholt; Pernille A. Gregersen; Jos van Hasselt; Nayana Lahiri; Elizabeth E. Palmer; Ruth Sheffer; Jill Clayton-Smith; Yael Wilnai; Charu Deshpande; Jenny E.V. Morton; Emma Clement; Gijs W.E. Santen; Cristina Dias

作者单位Department of Twin Research & Genetic Epidemiology, King’s College London, London, United Kingdom; Clinical Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Neural Stem Cell Biology Lab, The Francis Crick Institute, London, United Kingdom; Department of Medical and Molecular Genetics, School of Basic & Medical Biosciences, King’s College London, London, United Kingdom; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands; Structural Biology of Disease Processes Laboratory, The Francis Crick Institute, London, United Kingdom; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast, Northern Ireland, United Kingdom; Department of Molecular and Human Genetics, Baylor College of Medicine, Genetics Service, Texas Children’s Hospital, Houston, TX; Department of Pediatrics, University of California San Diego, Division of Dysmorphology and Genetics, Rady Children’s Hospital San Diego, San Diego, CA; Department of Medical Genetics and the British Columbia Children’s Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada; North West Thames Regional Genetics Service, NHS, Northwick Park & St Mark’s Hospitals, London, Harrow, United Kingdom; Serviço de Genética Médica, Centro Hospitalar Universitário Lisboa Norte, Hospital de Santa Maria, Lisbon, Portugal; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs", Centre de Génétique, FHU-TRANSLAD et Institut GIMI, CHU Dijon Bourgogne, Dijon, France; Department of Clinical Genetics, Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark; Pediatrics and Adolescent Medicine, Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark; ‘ s Heeren Loo Zorggroep, Advisium, Ermelo, The Netherlands; St George’s University Hospitals NHS Foundation Trust & St Georges, University of London, IMBE, London, United Kingdom; Department of Molecular and Biomedical Sciences, City St, University of London, London, United Kingdom; Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia; Centre for Clinical Genetics, Sydney Children’s Hospitals Network, Randwick, NSW, Australia; Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Saint Mary’s Hospital, Oxford Road, Manchester, United Kingdom; Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Clinical Genetics, Guy’s & St Thomas NHS Foundation Trust, London, United Kingdom; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women’s and Children’s Hospitals NHS Foundation Trust, Birmingham, United Kingdom