第一单位：
MRC Human Genetics Unit, Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
作者：
Stuart,Aitken [1]
;
Helen V,Firth [2]
;
Jeremy,McRae [3]
;
Mihail,Halachev [4]
;
Usha,Kini [5]
;
Michael J,Parker [6]
;
Melissa M,Lees [7]
;
Katherine,Lachlan [8]
;
Ajoy,Sarkar [9]
;
Shelagh,Joss [10]
;
Miranda,Splitt [11]
;
Shane,McKee [12]
;
Andrea H,Németh [13]
;
Richard H,Scott [7]
;
Caroline F,Wright [14]
;
Joseph A,Marsh [1]
;
Matthew E,Hurles [3]
;
David R,FitzPatrick [15]
;
DDD Study [3]
作者单位：
MRC Human Genetics Unit, Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
[1]
Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK; Clinical Genetic Department, Addenbrooke's Hospital Cambridge University Hospitals, Cambridge, UK.
[2]
Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
[3]
MRC Human Genetics Unit, Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK; South East Scotland Regional Genetics Services, Western General Hospital, Edinburgh, UK.
[4]
Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
[5]
Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK.
[6]
North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3EH, UK.
[7]
Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK.
[8]
Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK.
[9]
West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.
[10]
Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
[11]
Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast BT9 7AB, UK.
[12]
Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK; Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, Oxford, UK.
[13]
University of Exeter Medical School, RILD Level 4, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK.
[14]
MRC Human Genetics Unit, Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address: david.fitzpatrick@ed.ac.uk.
[15]
DOI
10.1016/j.ajhg.2019.09.015
PMID
31607427
发布时间
2022-12-07
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