第一单位：
Institute of Biomedical and Clinical Science, University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Exeter, EX2 5DW, United Kingdom.
作者：
Aaron R,Jeffries [1]
;
Reza,Maroofian [2]
;
Claire G,Salter [3]
;
Barry A,Chioza [1]
;
Harold E,Cross [4]
;
Michael A,Patton [5]
;
Emma,Dempster [1]
;
I Karen,Temple [6]
;
Deborah J G,Mackay [7]
;
Faisal I,Rezwan [7]
;
Lise,Aksglaede [8]
;
Diana,Baralle [6]
;
Tabib,Dabir [9]
;
Matthew F,Hunter [10]
;
Arveen,Kamath [11]
;
Ajith,Kumar [12]
;
Ruth,Newbury-Ecob [13]
;
Angelo,Selicorni [14]
;
Amanda,Springer [10]
;
Lionel,Van Maldergem [15]
;
Vinod,Varghese [11]
;
Naomi,Yachelevich [16]
;
Katrina,Tatton-Brown [17]
;
Jonathan,Mill [1]
;
Andrew H,Crosby [1]
;
Emma L,Baple [18]
作者单位：
Institute of Biomedical and Clinical Science, University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Exeter, EX2 5DW, United Kingdom.
[1]
Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George's University of London, London SW17 0RE, United Kingdom.
[2]
Institute of Biomedical and Clinical Science, University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Exeter, EX2 5DW, United Kingdom.;Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, United Kingdom.;Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, SO16 5YA, United Kingdom.
[3]
Department of Ophthalmology and Vision Science, University of Arizona School of Medicine, Tucson, Arizona 85711, USA.
[4]
Institute of Biomedical and Clinical Science, University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Exeter, EX2 5DW, United Kingdom.;Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George's University of London, London SW17 0RE, United Kingdom.
[5]
Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, United Kingdom.;Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, SO16 5YA, United Kingdom.
[6]
Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, United Kingdom.
[7]
Department of Clinical Genetics, Copenhagen University Hospital, Blegdamsvej 3B, 2200 Copenhagen N, Denmark.
[8]
Northern Ireland Regional Genetics Centre, Clinical Genetics Service, Belfast City Hospital, Belfast, BT9 7AB, United Kingdom.
[9]
Monash Genetics, Monash Health, Clayton, Victoria, VIC 3168, Australia.;Department of Paediatrics, Monash University, Clayton, Victoria, VIC 3168, Australia.
[10]
Institute of Medical Genetics, University Hospital of Wales, Cardiff, CF14 4XN, United Kingdom.
[11]
North East Thames Regional Genetics Service and Department of Clinical Genetics, Great Ormond Street Hospital, London, WC1N 3JH, United Kingdom.
[12]
University Hospitals Bristol, Department of Clinical Genetics, St Michael's Hospital, Bristol, BS2 8EG, United Kingdom.
[13]
UOC Pediatria ASST Lariana, Como, Italy.
[14]
Centre de génétique humaine and Clinical Investigation Center 1431 (INSERM), Université de Franche-Comté, 25000, Besançon, France.
[15]
Clinical Genetics Services, New York University Hospitals Center, New York University, New York, New York 10016, USA.
[16]
Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George's University of London, London SW17 0RE, United Kingdom.;Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, United Kingdom.;South West Thames Regional Genetics Service, St. George's University Hospitals NHS Foundation Trust, London SW17 0QT, United Kingdom.
[17]
Institute of Biomedical and Clinical Science, University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Exeter, EX2 5DW, United Kingdom.;Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital, Exeter, EX1 2ED, United Kingdom.
[18]
DOI
10.1101/gr.243584.118
PMID
31160375
发布时间
2025-05-30
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