Genome Sequencing for Diagnosing Rare Diseases
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Published:2024-06-06
Issue:21
Volume:390
Page:1985-1997
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ISSN:0028-4793
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Container-title:New England Journal of Medicine
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language:en
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Short-container-title:N Engl J Med
Author:
Wojcik Monica H.1ORCID, Lemire Gabrielle1, Berger Eva1, Zaki Maha S.1, Wissmann Mariel1, Win Wathone1, White Susan M.1, Weisburd Ben1, Wieczorek Dagmar1, Waddell Leigh B.1, Verboon Jeffrey M.1, VanNoy Grace E.1, Töpf Ana1, Tan Tiong Yang1, Syrbe Steffen1, Strehlow Vincent1, Straub Volker1, Stenton Sarah L.1, Snow Hana1, Singer-Berk Moriel1, Silver Josh1, Shril Shirlee1, Seaby Eleanor G.1, Schneider Ronen1, Sankaran Vijay G.1, Sanchis-Juan Alba1, Russell Kathryn A.1, Reinson Karit1, Ravenscroft Gianina1, Radtke Maximilian1, Popp Denny1, Polster Tilman1, Platzer Konrad1, Pierce Eric A.1, Place Emily M.1, Pajusalu Sander1, Pais Lynn1, Õunap Katrin1, Osei-Owusu Ikeoluwa1, Opperman Henry1, Okur Volkan1, Oja Kaisa Teele1, O’Leary Melanie1, O’Heir Emily1, Morel Chantal F.1, Merkenschlager Andreas1, Marchant Rhett G.1, Mangilog Brian E.1, Madden Jill A.1, MacArthur Daniel1, Lovgren Alysia1, Lerner-Ellis Jordan P.1, Lin Jasmine1, Laing Nigel1, Hildebrandt Friedhelm1, Hentschel Julia1, Groopman Emily1, Goodrich Julia1, Gleeson Joseph G.1, Ghaoui Roula1, Genetti Casie A.1, Gburek-Augustat Janina1, Gazda Hanna T.1, Ganesh Vijay S.1, Ganapathi Mythily1, Gallacher Lyndon1, Fu Jack M.1, Evangelista Emily1, England Eleina1, Donkervoort Sandra1, DiTroia Stephanie1, Cooper Sandra T.1ORCID, Chung Wendy K.1, Christodoulou John1, Chao Katherine R.1, Cato Liam D.1, Bujakowska Kinga M.1, Bryen Samantha J.1, Brand Harrison1, Bönnemann Carsten G.1, Beggs Alan H.1, Baxter Samantha M.1, Bartolomaeus Tobias1, Agrawal Pankaj B.1, Talkowski Michael1, Austin-Tse Christina1, Abou Jamra Rami1, Rehm Heidi L.1ORCID, O’Donnell-Luria Anne1
Affiliation:
1. From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children’s Hospital, Harvard Medical School, the Department of Pediatric...
Funder
Massachusetts General Hospital Dietmar-Hopp-Stiftung National Institutes of Health National Institute of Child Health and Human Development National Human Genome Research Institute National Eye Institute Thrasher Research Fund McLaughlin Centre, University of Toronto Muscular Dystrophy Association of New South Wales Coalition to Cure Calpain 3 Chan Zuckerberg Initiative CIHR- Champions of Genetics Murdoch Children’s Research Institute National Health and Medical Research Council Eesti Teadusagentuur Victorian Government’s Operational Infrastructure Support Program Harbig Foundation The Royal Children’s Hospital Foundation LGMD2I Research Fund LGMD2D Foundation Samantha J Brazzo Foundation Muscular Dystrophy UK Kurt+Peter Foundation Sanofi Genzyme Ultragenyx Pharmaceutical Foundation Fighting Blindness Fonds de recherche en santé du Québec
Publisher
Massachusetts Medical Society
Cited by
7 articles.
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