换一批
第一作者：
Christoffer,Nellåker
第一单位：
Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, United Kingdom.;Big Data Institute, University of Oxford, Oxford, United Kingdom.;Institute for Biomedical Engineering, University of Oxford, Oxford, United Kingdom.
作者：
Christoffer,Nellåker [1]
;
Fowzan S,Alkuraya [2]
;
Gareth,Baynam [3]
;
Raphael A,Bernier [4]
;
Francois P J,Bernier [5]
;
Vanessa,Boulanger [6]
;
Michael,Brudno [7]
;
Han G,Brunner [8]
;
Jill,Clayton-Smith [9]
;
Benjamin,Cogné [10]
;
Hugh J S,Dawkins [11]
;
Bert B A,deVries [8]
;
Sofia,Douzgou [9]
;
Tracy,Dudding-Byth [12]
;
Evan E,Eichler [13]
;
Michael,Ferlaino [14]
;
Karen,Fieggen [15]
;
Helen V,Firth [16]
;
David R,FitzPatrick [17]
;
Dylan,Gration [18]
;
Tudor,Groza [19]
;
Melissa,Haendel [20]
;
Nina,Hallowell [21]
;
Ada,Hamosh [22]
;
Jayne,Hehir-Kwa [23]
;
Marc-Phillip,Hitz [24]
;
Mark,Hughes [25]
;
Usha,Kini [26]
;
Tjitske,Kleefstra [8]
;
R Frank,Kooy [27]
;
Peter,Krawitz [28]
;
Sébastien,Küry [10]
;
Melissa,Lees [29]
;
Gholson J,Lyon [30]
;
Stanislas,Lyonnet [31]
;
Julien L,Marcadier [5]
;
Stephen,Meyn [7]
;
Veronika,Moslerová [32]
;
Juan M,Politei [33]
;
Cathryn C,Poulton [34]
;
F Lucy,Raymond [35]
;
Margot R F,Reijnders [36]
;
Peter N,Robinson [37]
;
Corrado,Romano [38]
;
Catherine M,Rose [39]
;
David C G,Sainsbury [40]
;
Lyn,Schofield [18]
;
Vernon R,Sutton [41]
;
Marek,Turnovec [32]
;
Anke,Van Dijck [42]
;
Hilde,Van Esch [43]
;
Andrew O M,Wilkie [44]
;
Minerva Consortium
作者单位：
Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, United Kingdom.;Big Data Institute, University of Oxford, Oxford, United Kingdom.;Institute for Biomedical Engineering, University of Oxford, Oxford, United Kingdom.
[1]
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
[2]
Western Australian Register of Developmental Anomalies, and Genetic Services of Western Australia, King Edward Memorial, Subiaco, WA, Australia.;Telethon Kids Institute and School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.;Spatial Sciences, Science and Engineering, Curtin University, Perth, WA, Australia.
[3]
Department of Psychiatry & Behavioral Science, University of Washington School of Medicine, Seattle, WA, United States.
[4]
Alberta Children's Hospital Research Institute, Calgary, AB, Canada.
[5]
National Organization for Rare Disorders, Danbury, CT, United States.
[6]
Department of Computer Science, University of Toronto and the Hospital for Sick Children, Toronto, Canada.
[7]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
[8]
Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, United Kingdom.
[9]
CHU Nantes, Service de Génétique Médicale, Nantes, France.
[10]
Office of Population Health Genomics, Public and Aboriginal Health Division, Department of Health Government of Western Australia, Perth, WA, Australia.;Sir Walter Murdoch School of Policy and International Affairs, Murdoch University.;Centre for Population Health Research, Curtin University of Technology, Perth, WA, Australia.
[11]
Hunter Genetics, Waratah, NSW, Australia.
[12]
Department of Genome Science, University of Washington School of Medicine, Seattle, WA, United States.;Howard Hughes Medical Institute, University of Washington, Seattle, WA, United States.
[13]
Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, United Kingdom.;Big Data Institute, University of Oxford, Oxford, United Kingdom.
[14]
Division of Human Genetics, Level 3, Wernher and Beit North, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Observatory, South Africa.
[15]
Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom.
[16]
MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.
[17]
Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia.
[18]
The Garvan Institute, Sydney, NSW, Australia.
[19]
Oregon Health & Science University, Portland, OR, United States.
[20]
Big Data Institute, University of Oxford, Oxford, United Kingdom.;Wellcome Centre for Ethics and Humanities, University of Oxford, Oxford, United Kingdom.;Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom.
[21]
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, United States.
[22]
Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands.
[23]
Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein-Campus Kiel, Kiel, Germany.
[24]
Department of Clinical Neurosciences, Western General Hospital, Edinburgh, United Kingdom.
[25]
Oxford Centre for Genomic Medicine, Oxford, United Kingdom.
[26]
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
[27]
Institut für Genomische Statistik und Bioinformatik, Universitätsklinikum Bonn, Rheinische-Friedrich-Wilhelms-Universität, Bonn, Germany.
[28]
Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
[29]
George A. Jervis Clinic and Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, NY, United States.
[30]
Imagine Institute, Paris, France.
[31]
Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and University Hospital, Prague, Czechia.
[32]
Laboratorio Chamoles, Errores Congénitos del Metabolismo, Buenos Aires, Argentina.
[33]
Department of Paediatrics and Neonates, Fiona Stanley Hospital, Perth, WA, Australia.
[34]
CIMR (Wellcome Trust/MRC Building), Cambridge, United Kingdom.
[35]
Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
[36]
The Jackson Laboratory, Farmington, CT, United States.
[37]
Oasi Research Institute-IRCCS, Troina, Italy.
[38]
Victorian Clinical Genetics Service and Murdoch Childrens Research Institute, The Royal Children's Hospital, Parkville, VIC, Australia.
[39]
Northern & Yorkshire Cleft Lip and Palate Service, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom.
[40]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
[41]
Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium.
[42]
Center for Human Genetics, University Hospitals Leuven, University of Leuven, Leuven, Belgium.
[43]
Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, United Kingdom.
[44]
DOI
10.3389/fgene.2019.00611
PMID
31417602
发布时间
2025-05-30
基金项目
U54 HD083091/HD/NICHD NIH HHS/United States
P50 HD103524/HD/NICHD NIH HHS/United States
UM1 HG006542/HG/NHGRI NIH HHS/United States
MR/M014568/1/MRC_/Medical Research Council/United Kingdom
MR/M01326X/1/MRC_/Medical Research Council/United Kingdom
R01 MH101221/MH/NIMH NIH HHS/United States
- 浏览0
Frontiers in genetics
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
