第一单位：
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
作者：
Paul,Kruszka [1]
;
Tommy,Hu [1]
;
Sungkook,Hong [1]
;
Rebecca,Signer [2]
;
Benjamin,Cogné [3]
;
Betrand,Isidor [3]
;
Sarah E,Mazzola [4]
;
Jacques C,Giltay [5]
;
Koen L I,van Gassen [5]
;
Eleina M,England [6]
;
Lynn,Pais [6]
;
Charlotte W,Ockeloen [7]
;
Pedro A,Sanchez-Lara [8]
;
Esther,Kinning [9]
;
Darius J,Adams [10]
;
Kayla,Treat [11]
;
Wilfredo,Torres-Martinez [11]
;
Maria F,Bedeschi [12]
;
Maria,Iascone [13]
;
Stephanie,Blaney [14]
;
Oliver,Bell [15]
;
Tiong Y,Tan [16]
;
Marie-Ange,Delrue [17]
;
Julie,Jurgens [18]
;
Brenda J,Barry [19]
;
Elizabeth C,Engle [20]
;
Sarah K,Savage [21]
;
Nicole,Fleischer [21]
;
Julian A,Martinez-Agosto [2]
;
Kym,Boycott [22]
;
Elaine H,Zackai [4]
;
Maximilian,Muenke [1]
作者单位：
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
[1]
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California.
[2]
Service de génétique médicale, Hôtel-Dieu, Nantes, France.
[3]
Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
[4]
Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
[5]
Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
[6]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
[7]
Keck School of Medicine, University of Southern California, Los Angeles, California.;Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, California.
[8]
West of Scotland Genetics Service, Queen Elizabeth Hospitals, Glasgow, Scotland.
[9]
Personalized Genomic Medicine and Pediatric Genetics, Atlantic Health System, Morristown, New Jersey.
[10]
Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
[11]
Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
[12]
Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.
[13]
Genetics, Vaccine Preventable Diseases, and Sexual Health, Algoma Public Health, Sault Ste. Marie, Ontario, Canada.
[14]
Keck School of Medicine, University of Southern California, Los Angeles, California.
[15]
Murdoch Children's Research Institute, Melbourne, Victoria, Australia.;Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.;Victorian Clinical Genetics Services, Melbourne, Victoria, Australia.
[16]
Département de pédiatrie, Service de génétique médicale, Centre Hospitalier Universitaire Ste-Justine, Université de Montréal, Montréal, Québec, Canada.
[17]
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
[18]
Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.;Howard Hughes Medical Institute, Chevy Chase, Maryland.
[19]
Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.;Howard Hughes Medical Institute, Chevy Chase, Maryland.;Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
[20]
FDNA, Inc., Boston, Massachusetts.
[21]
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
[22]
DOI
10.1002/ajmg.a.61306
PMID
31361404
发布时间
2025-05-30
换一批
