AMERICAN JOURNAL OF HUMAN GENETICS

AuthorsKimberley Jade Anderson; Eirny Tholl Thorolfsdottir; Ilana M. Nodelman; Sara Tholl Halldorsdottir; Stefania Benonisdottir; Malak A. Alghamdi; Naif A.M. Almontashiri; Brenda J. Barry; Matthias Begemann; Jacquelyn F. Britton; Sarah Burke; Benjamin Cogne; Ana S.A. Cohen; Carles de Diego Boguñá; Evan E. Eichler; Elizabeth C. Engle; Jill A. Fahrner; Laurence Faivre; Mélanie Fradin; Nico Fuhrmann; Christine W. Gao; Gunjan Garg; Dagmar Grečmalová; Mina Grippa; Jacqueline R. Harris; Kendra Hoekzema; Tova Hershkovitz; Sydney Hubbard; Katrien Janssens; Julie A. Jurgens; Stanislav Kmoch; Cordula Knopp; Meral Aktas Koptagel; Farah A. Ladha; Pablo Lapunzina; Tobias Lindau; Marije Meuwissen; Andreina Minicucci; Emily Neuhaus; Mathilde Nizon; Lenka Nosková; Kristen Park; Chirag Patel; Rolph Pfundt; Pankaj Prasun; Nils Rahner; Nathaniel H. Robin; Carey Ronspies; Jasmin Roohi; Jill Rosenfeld; Margarita Saenz; Carol Saunders; Zornitza Stark; Isabelle Thiffault; Sarah Thull; Danita Velasco; Clara Velmans; Jolijn Verseput; Antonio Vitobello; Tianyun Wang; Karin Weiss; Ingrid M. Wentzensen; Genay Pilarowski; Thor Eysteinsson; Madelyn Gillentine; Kári Stefánsson; Agnar Helgason; Gregory D. Bowman; Hans Tomas Bjornsson

AffiliationsDepartment of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland; School of Health, Business and Natural Sciences, Faculty of Natural Resource Sciences, University of Akureyri, Akureyri, Iceland; T.C. Jenkins Department of Biophysics, Johns Hopkins University, Baltimore, MD, USA; The Louma G. Laboratory of Epigenetic Research, Faculty of Medicine, University of Iceland, Reykjavik, Iceland; Institute of Physical Sciences, University of Iceland, Reykjavik, Iceland; Leverhulme Centre for Demographic Science, Nuffield Department of Population Health, University of Oxford and Nuffield College, Oxford, UK; Medical Genetics Division, Pediatric Department, College of Medicine, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia; Center for Genetics and Inherited Diseases and Faculty of Applied Medical Sciences, Taibah University, Almadinah Almunwarah, Saudi Arabia; Research Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia; F.M. Kirby Neurobiology Center, Boston Children’s Hospital, Boston, MA, USA; Department of Neurology, Boston Children’s Hospital, Boston, MA, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA; Nantes Université, CHU de Nantes, CNRS, INSERM, L’institut Du Thorax, 44000 Nantes, France; Nantes Université, CHU de Nantes, Service de Génétique Médicale, 44000 Nantes, France; Department of Pathology and Laboratory Medicine, Genomic Medicine Center, Children’s Mercy-Kansas City, Kansas City, MO, USA; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA; Servicio de Genética, Hospital Universitario de Toledo, Toledo, Spain; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Ophthalmology, Boston Children’s Hospital, Boston, MA, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de Génétique, Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, et Centre de Référence GénoPsy, 21000 Dijon, France; Service de Genetique Medicale, Centre Labellisé Anomalies Du Développement de L'Ouest, CHU Rennes, Rennes, France; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany; Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia; Hunter Genetics, Waratah, NSW, Australia; School of Women’s and Children’s Health, University of New South Wales, Sydney, NSW, Australia; Institute of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czech Republic; SSD Medical Genetics, Maternal and Child Department, AOU Policlinico Modena, Modena, Italy; Kennedy Krieger Institute, Department of Neurology, Baltimore, MD, USA; The Genetics Institute, Galilee Medical Center, Nahariya, Israel; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; INGEMM-Institute of Medical and Molecular Genetics, IdiPAZ-CIBERER-Hospital Universitario La Paz, and ERNITHACA, Madrid, Spain; Department of Pediatrics, Gemeinschaftsklinikum Mittelrhein Kemperhof, Koblenzer Straße 115–155, 56073 Koblenz, Germany; IRCCS Azienda Ospedaliero-Universitaria di Bologna, U.O. Genetica Medica, 40138 Bologna, Italy; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA; Service de Génétique Médicale, Unité de Génétique Clinique, Nantes, France; Departments of Pediatrics and Neurology, University of Colorado School of Medicine and Children’s Hospital Colorado, Aurora, CO, USA; Genetic Health Queensland, Royal Brisbane & Women’s Hospital Campus, Herston, Brisbane, QLD, Australia; Department of Human Genetics, Donders Institute, Radboud University Medical Center, Nijmegen, the Netherlands; Division of Genetics, Department of Pediatrics, West Virginia School of Medicine, Morgantown, WV, USA; MVZ Institute for Clinical Genetics and Tumor Genetics, Bonn, Germany; Department of Genetics, UAB Heersink School of Medicine, Birmingham, AL, USA; Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA; Department of Genetics, Mid-Atlantic Permanente Medical Group, Washington, DC, USA; Baylor Genetics, Houston, TX, USA; Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Flemington Road, Parkville, VIC, Australia; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands; 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; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing 100191, China; Neuroscience Research Institute, Peking University, Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing 100191, China; Autism Research Center, Peking University Health Science Center, Beijing 100191, China; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel; GeneDx, LLC, Gaithersburg, MD 20877, USA; Chan Zuckerberg Biohub, San Francisco, CA, USA; Department of Physiology, Faculty of Medicine, University of Iceland, Reykjavik, Iceland; Department of Ophthalmology, Landspitali University Hospital, Reykjavik, Iceland; Independent Scientist, Seattle, WA, USA; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland; Department of Anthropology, University of Iceland, Reykjavik, Iceland

AuthorsAdam S. Arterbery; Michael A. Gargano; Anita Bagley; Jagadish Chandrabose Sundaramurthi; Lauren Rekerle; Thania Ordaz-Robles; Daniel Danis; Adam S.L. Graefe; Ana L. Arenas-Díaz; Jeremy P. Bauer; Hannah Blau; Leigh Carmody; Kristen I. Carroll; Janice Davis; Philip F. Giampietro; Anxhela Gjyshi Gustafson; Monserat Hernandez; Julius O.B. Jacobsen; Paige Lemhouse; David Millet; Shubhra Mukherjee; Patrick S. Nairne; Emily Nice; Talia Plotkin; Kenneth Powell; Lukas Ramlow; Ellen M. Raney; Mallory Shingle; Damian Smedley; Peter A. Smith; Demiana A. Soliman; David E. Westberry; Jon R. Davids; Peter N. Robinson

AffiliationsThe Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA; Shriners Children’s Northern California, Sacramento, CA 95817, USA; Shriners Children’s, Mexico City, Mexico; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin 10117, Germany; Shriners Children’s, Portland, OR 97239, USA; Shriners Children’s Salt Lake City, Salt Lake City, UT 84103, USA; University of Illinois-Chicago, 840 S Wood St., Room 1224, Chicago, IL 60612, USA; Shriners Children’s Genomics Institute, Tampa, FL 33612, USA; William Harvey Research Institute, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK; Shriners Children’s Chicago, 2211 N Oak Park Ave, Chicago, IL 60707, USA; Shriners Children’s Philadelphia, Philadelphia, PA 19140, USA; Shriners Children’s Shreveport, 3100 Samford Ave., Shreveport, LA 71103, USA; Shriners Children’s Greenville, 950 West Faris Rd., Greenville, SC, USA; Department of Orthopedic Surgery, University of California Davis Health, Sacramento, CA 95817, USA

AuthorsSuhasini D. Lulla; Deborah I. Ritter; Chimene Kesserwan; Sharon E. Plon

AffiliationsDepartment of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children’s Cancer and Hematology Center, Houston, TX 77030, USA; Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA

AuthorsJoanna Domènech-Vivó; Hélène Tubeuf; Romy L.S. Mesman; Aurelie Drouet; Mélanie Girardi; María Concepción Alonso-Cerezo; Diana Baralle; Nadia Boutry-Kryza; David J. Bunyan; Helen J. Byers; Sandrine M. Caputo; Kathleen B.M. Claes; Miguel De la Hoya; D. Gareth Evans; Laure Frésard; Sophie Krieger; Conxi Lázaro; Mélanie Leone; Eva Macháčková; Mireia Menéndez; Alejandro Moles-Fernández; Gemma Montalban; Erin Mundt; Marcy E. Richardson; Elke M. Van Veen; Jamie Weyandt; Judith Balmaña; Amanda B. Spurdle; Orland Diez; Maaike P.G. Vreeswijk; Alexandra Martins; Sara Gutiérrez-Enríquez

AffiliationsHereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Vall d’Hebron Barcelona Hospital Campus, Barcelona, Spain; Programa de Doctorat en Biomedicina, Universitat de Barcelona (UB), Barcelona, Spain; Area of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; University Rouen Normandie, Inserm U1245, 76000 Rouen, France; Interactive Biosoftware, Rouen, France; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands; Genética Clínica, Servicio de Oncología Médica, Hospital Universitario de la Princesa, Madrid, Spain; Faculty of Medicine, University of Southampton, Southampton, UK; University Hospital Southampton, Southampton, UK; Plateforme mixte de génétique moléculaire Hospices Civils de Lyon, Centre Léon Bérard, Lyon, France; Wessex Genomics Laboratory Service (Salisbury), Salisbury District Hospital, Salisbury, UK; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK; Service de Génétique, Institut Curie, 26 rue d'Ulm, Paris, France; Paris Sciences and Lettres (PSL) University, Paris, France; Center for Medical Genetics, Ghent University Hospital, Department of Biomolecular Medicine, Ghent University, CRIG (Cancer Research Institute Ghent), Ghent, Belgium; Molecular Oncology Laboratory, Hospital Clínico San Carlos, IdISSC, Madrid, Spain; Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, Division of Evolution and Genomic Medicine, University of Manchester, St Mary’s Hospital, Manchester Universities NHS Foundation Trust, Manchester, UK; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, USA; Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse, Caen, France; UNICAEN, Normandie Université, Caen, France; Hereditary Cancer Program, Oncobell, IDIBELL, Catalan Institute of Oncology, Hospitalet de Llobregat, Barcelona, Spain; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain; Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic; Myriad Genetics, Inc., Salt Lake City, UT, USA; Ambry Genetics, Aliso Viejo, CA, USA; Medical Oncology Department, Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, Barcelona, Spain; QIMR Berghofer, Brisbane, QLD, Australia

AuthorsYong-Han Hank Cheng; Adriana E. Sedeño-Cortés; Jane E. Ranchalis; Katherine M. Munson; Mitchell R. Vollger; Elsa Balton; Casie A. Genetti; Jenny L. Wilson; Monica H. Wojcik; Alan H. Beggs; Michael J. Bamshad; Chia-Lin Wei; Katrina M. Dipple; Runjun D. Kumar; Mark D. Fleming; Ian A. Glass; Elizabeth E. Blue; Gail Jarvik; Jessica X. Chong; Daniela M. Witten; Anne O’Donnell-Luria; Andrew B. Stergachis

AffiliationsDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA; Division of Pediatric Neurology, Department of Pediatrics, Oregon Health & Science University, Portland, OR, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA; The Northwest Genomics Center, University of Washington, Seattle, WA, USA; Seattle Children’s Research Institute, Center for Clinical and Translational Research, Seattle, WA, USA; Department of Laboratory Medicine & Pathology, University of Washington, Seattle, WA, USA; Department of Pathology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA; Department of Pediatrics, University of Washington, Seattle, WA, USA; Institute for Public Health Genetics, University of Washington, Seattle, WA, USA; Departments of Statistics & Biostatistics, University of Washington, Seattle, WA, USA

AuthorsHamish A.J. MacGregor; Jamie R. Blundell; Douglas F. Easton

AffiliationsEarly Cancer Institute, University of Cambridge, Cambridge, UK; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK

AuthorsZhaoping Ju; Yunhe Xue; Abby Rud; Juliann M. Savatt; Jordan Lerner-Ellis; Heidi L. Rehm; Yann Joly; Diya Uberoi

AffiliationsCentre of Genomics and Policy, McGill University, Montreal, QC, Canada; Department of Pathology, McGill University, Montreal, QC, Canada; Department of Genomic Health, Geisinger, Danville, PA, USA; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, Mount Sinai Hospital, Toronto, ON, Canada; Lunenfeld-Tanenbaum Research Institute, Toronto, ON, Canada; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Independent Researcher, Montreal, QC, Canada

AuthorsAnna Axakova; Amund H. Berger; Warren van Loggerenberg; Nishka Kishore; Marinella Gebbia; Megan X. Ding; Samuel V. Douville; Daniel R. Tabet; Atina G. Cote; Jochen Weile; Stefan Johansson; Eirik Bratland; Frederick P. Roth

AffiliationsDonnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada; Department of Clinical Science, University of Bergen, Bergen, Norway; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA; Faculty of Health Science, McMaster University, Hamilton, ON, Canada; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway

AuthorsMarina Boon; Meghan R. Mulligan; Jolijn J.A. Verseput; Barbara Šakić; Pleuni Schreurs; Mireia Coll-Tané; Andrea Accogli; Emily Alderman; Taryn Athey; Cornelius Boerkoel; Antonella Boni; Roseline Caumes; Erica Gerkes; Sabine Haase; Sylvie Jaillard; Lauren Jeffries; Peter Kannu; Monica Konstantino; Jonathan Lévy; Anna Lokchine; Maarten Massink; Nadra Nasser Samra; Renske Oegema; Marcello Scala; Jolanda Schieving; Sarina Schwartzmann; Henrike Lisa Sczakiel; Thomas Smol; Pasquale Striano; Alain Verloes; Amber Begtrup; Rolph Pfundt; Barbara Franke; Marieke Klein; Annette Schenck; Louise S. Bicknell; Bert B.A. de Vries

AffiliationsHuman Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, the Netherlands; Department of Biochemistry, University of Otago, Dunedin, New Zealand; Department Medical Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre (MUHC), Montreal, QC, Canada; Department of Human Genetics, McGill University, Montreal, QC, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Provincial Medical Genetics Program, Women’s Hospital of British Columbia, Vancouver, BC, Canada; University of Alberta, Edmonton, AB, Canada; Alberta Health Services, Edmonton, AB, Canada; IRCCS Istituto Delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria Dell'Età Pediatrica, Bologna, Italy; CHU Lille, ULR 7364 – RADEME – Maladies RAresdu DÉveloppementembryonnaire et Du Métabolisme, University Lille, 59000 Lille, France; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands; Zentrum für Humangenetik Tübingen, Tübingen, Germany; CHU Rennes, Inserm, Irset (Institut de Recherche en Santé, Environnement et Travail) – UMR_S 1085 (service de Cytogénétique et Biologie Cellulaire), University Rennes, 35000 Rennes, France; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA; Genetics Department, AP-HP, Robert-Debré University Hospital, 75019 Paris, France; Laboratoire de Biologie Médicale Multisites Seqoia – FMG2025, 75014 Paris, France; Department of Genetics. University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Genetic Unit, Ziv Medical Center, Tsfat, Israel; Faculty of Medicine, Bar-Ilan University, Tzfat, Israel; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Pediatric Neurology Department, Radboud University Medical Center, Nijmegen, the Netherlands; Institute of Medical Genetics and Human Genetics, Charité – Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany; BIH Biomedical Innovation Academy, Berlin Institute of Health at Charité – Universitätsmedizin Berlin, 10117 Berlin, Germany; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Full Member of ERN-Epicare, Genoa, Italy; GeneDx, LLC, Gaithersburg, MD, USA

AuthorsChloe Hanson; Timothy Derebenskiy; Ana Rodriguez Vega; Yashika S. Kamte; Rachel G. Fox; Laila Sathe; Hannah Lambing; Tyler E. Dietterich; Derek Hawes; Ralda Nehme; Olli Pietiläinen; Aarno Palotie; Patrick Allard; Harold Pimentel; Michael F. Wells

AffiliationsDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA; Interdepartmental PhD Program for Neuroscience, University of California, Los Angeles, Los Angeles, CA, USA; The UCLA-CDU Dana Center for Neuroscience & Society, Los Angeles, CA, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Helsinki Institute of Life Science Neuroscience Center, University of Helsinki, Helsinki, Finland; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Analytic and Translational Genetics Unit, Department of Medicine, Department of Neurology, and Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Institute for Society and Genetics, University of California, Los Angeles, Los Angeles, CA, USA; Molecular Biology Institute, University of California, Los Angeles, Los Angeles, CA, USA; Department of Computer Science, University of California, Los Angeles, Los Angeles, CA, USA; Department of Computational Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA