作者：
Eduardo,Calpena [1]
;
Alexia,Hervieu [2]
;
Teresa,Kaserer [2]
;
Sigrid M A,Swagemakers [3]
;
Jacqueline A C,Goos [4]
;
Olajumoke,Popoola [2]
;
Maria Jesus,Ortiz-Ruiz [2]
;
Tina,Barbaro-Dieber [5]
;
Lucy,Bownass [6]
;
Eva H,Brilstra [7]
;
Elise,Brimble [8]
;
Nicola,Foulds [9]
;
Theresa A,Grebe [10]
;
Aster V E,Harder [7]
;
Melissa M,Lees [11]
;
Kristin G,Monaghan [12]
;
Ruth A,Newbury-Ecob [6]
;
Kai-Ren,Ong [13]
;
Deborah,Osio [13]
;
Francis Jeshira,Reynoso Santos [14]
;
Maura R Z,Ruzhnikov [8]
;
Aida,Telegrafi [12]
;
Ellen,van Binsbergen [7]
;
Marieke F,van Dooren [15]
;
Deciphering Developmental Disorders Study [16]
;
Peter J,van der Spek [3]
;
Julian,Blagg [2]
;
Stephen R F,Twigg [1]
;
Irene M J,Mathijssen [4]
;
Paul A,Clarke [17]
;
Andrew O M,Wilkie [18]
作者单位：
Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK.
[1]
Cancer Research UK Cancer Therapeutics Unit, the Institute of Cancer Research, London SM2 5NG, UK.
[2]
Department of Pathology and Department of Bioinformatics, Erasmus University Medical Center, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, the Netherlands.
[3]
Department of Plastic and Reconstructive Surgery, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, the Netherlands.
[4]
Genetics Division, Cook Children's Medical Center, Fort Worth, TX 76102, USA.
[5]
Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, St. Michael's Hospital, Bristol BS2 8EG, UK.
[6]
Department of Genetics, University Medical Center Utrecht, Utrecht University, 3508 AB Utrecht, the Netherlands.
[7]
Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA.
[8]
Wessex Clinical Genetics Services, University Hospital Southampton, Southampton SO16 5YA, UK.
[9]
Department of Child Health, University of Arizona College of Medicine, Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
[10]
North Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3EH, UK.
[11]
GeneDx, Gaithersburg, MD 20877, USA.
[12]
Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham B15 2TG, UK.
[13]
Genetics Division, Joe DiMaggio Children's Hospital, Hollywood, FL 33021, USA; Charles E. Schmidt College of Medicine, Florida Atlantic University, Hollywood, FL 33021, USA.
[14]
Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, the Netherlands.
[15]
Deciphering Developmental Disorders Study, Wellcome Sanger Institute, Cambridge CB10 1SA, UK.
[16]
Cancer Research UK Cancer Therapeutics Unit, the Institute of Cancer Research, London SM2 5NG, UK. Electronic address: paul.clarke@icr.ac.uk.
[17]
Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK. Electronic address: andrew.wilkie@imm.ox.ac.uk.
[18]
DOI
10.1016/j.ajhg.2019.02.006
PMID
30905399
发布时间
2021-01-09
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