第一单位：
National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London, UK.;Dept of Medical Genetics, Great Ormond Street Hospital, Great Ormond Street, London. WC1N 3JH, UK.
作者：
Angharad M,Roberts [1]
;
Marina T,DiStefano [2]
;
Erin Rooney,Riggs [3]
;
Katherine S,Josephs [4]
;
Fowzan S,Alkuraya [5]
;
Joanna,Amberger [6]
;
Mutaz,Amin [7]
;
Jonathan S,Berg [8]
;
Fiona,Cunningham [9]
;
Karen,Eilbeck [10]
;
Helen V,Firth [11]
;
Julia,Foreman [12]
;
Ada,Hamosh [6]
;
Eleanor,Hay [13]
;
Sarah,Leigh [14]
;
Christa L,Martin [15]
;
Ellen M,McDonagh [16]
;
Daniel,Perrett [9]
;
Erin M,Ramos [17]
;
Peter N,Robinson [18]
;
Ana,Rath [7]
;
David,van Sant [10]
;
Zornitza,Stark [19]
;
Nicola,Whiffin [20]
;
Heidi L,Rehm [21]
;
James S,Ware [22]
作者单位：
National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London, UK.;Dept of Medical Genetics, Great Ormond Street Hospital, Great Ormond Street, London. WC1N 3JH, UK.
[1]
Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[2]
Geisinger Autism & Developmental Medicine Institute, Danville, PA, USA.
[3]
National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London, UK.;Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.
[4]
Department of Translational Genomics, Center for Genomic Medicine, KFSHRC, Riyadh, Saudi Arabia.
[5]
Online Mendelian Inheritance in Man (OMIM), Johns Hopkins University School of Medicine, USA.
[6]
INSERM, US14-Orphanet, Paris, France.
[7]
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill NC, 27599.
[8]
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, United Kingdom.
[9]
Department of Biomedical Informatics, University of Utah, Salt Lake City, Utah.
[10]
Dept of Medical Genetics, Cambridge University Hospitals, Cambridge CB2 0QQ, UK.;Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, CB10 1SA, UK.
[11]
Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, CB10 1SA, UK.;European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, United Kingdom.
[12]
Dept of Medical Genetics, Great Ormond Street Hospital, Great Ormond Street, London. WC1N 3JH, UK.
[13]
Genomics England, Queen Mary University of London, Dawson Hall, London, EC1M 6BQ, UK.
[14]
Clinical Genome Resource (ClinGen), USA.
[15]
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, United Kingdom.;Open Targets, Cambridge, UK.
[16]
National Human Genome Research Institute, National Institutes of Health, USA.
[17]
The Jackson Laboratory for Genomic Medicine, Farmington CT 06032, USA.
[18]
Australian Genomics, Melbourne 3052, Australia.;Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne 3052, Australia.;University of Melbourne, Melbourne 3052, Australia.
[19]
Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Big Data Institute and Wellcome Centre for Human Genetics, University of Oxford, UK.
[20]
Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
[21]
National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London, UK.;Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, United Kingdom.
[22]
DOI
10.1101/2023.03.30.23287948
PMID
37066232
发布时间
2024-06-27
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