作者：
Sandra,Donkervoort [1]
;
Payam,Mohassel [1]
;
Melanie,O'Leary [2]
;
Devon E,Bonner [3]
;
Taila,Hartley [4]
;
Nicole,Acquaye [5]
;
Astrid,Brull [1]
;
Tahseen,Mozaffar [1]
;
Mario A,Saporta [6]
;
David A,Dyment [7]
;
Jacinda B,Sampson [8]
;
Sander,Pajusalu [5]
;
Christina,Austin-Tse [3]
;
Kyle,Hurth [9]
;
Julie S,Cohen [2]
;
Kirsty,McWalter [10]
;
Jodi,Warman-Chardon [11]
;
Amy,Crunk [2]
;
A Reghan,Foley [12]
;
Undiagnosed Diseases Network [13]
;
Andrew L,Mammen [14]
;
Matthew T,Wheeler [15]
;
Anne,O'Donnell-Luria [16]
;
Carsten G,Bönnemann [17]
作者单位：
Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
[1]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
[2]
Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.
[3]
Department of Pediatrics, Medical Genetics, Stanford University School of Medicine, Stanford, California, USA.
[4]
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
[5]
Department of Neurology, University of California, Irvine, California, USA.
[6]
Department of Pathology & Laboratory Medicine, University of California, Irvine, California, USA.
[7]
Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA.
[8]
Department of Neurology, Stanford University School of Medicine, Stanford, California, USA.
[9]
Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
[10]
Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
[11]
Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
[12]
Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
[13]
Department of Neurology and Developmental Medicine, Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.
[14]
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
[15]
GeneDx, Gaithersburg, Maryland, USA.
[16]
Department of Medicine, The Ottawa Hospital, University of Ottawa, Ottawa, Ontario, Canada.
[17]
Muscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.
[18]
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
[19]
Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California, USA.
[20]
Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
[21]
DOI
10.1002/acn3.51983
PMID
38311799
发布时间
2024-03-28
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