第一单位：
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK. meena.balasubramanian@nhs.net.;Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK. meena.balasubramanian@nhs.net.
作者：
Meena,Balasubramanian [1]
;
Alexander J M,Dingemans [2]
;
Shadi,Albaba [3]
;
Ruth,Richardson [4]
;
Thabo M,Yates [5]
;
Helen,Cox [6]
;
Sofia,Douzgou [7]
;
Ruth,Armstrong [8]
;
Francis H,Sansbury [9]
;
Katherine B,Burke [9]
;
Andrew E,Fry [9]
;
Nicola,Ragge [10]
;
Saba,Sharif [6]
;
Alison,Foster [6]
;
Annachiara,De Sandre-Giovannoli [11]
;
Sahar,Elouej [12]
;
Pradeep,Vasudevan [13]
;
Sahar,Mansour [14]
;
Kate,Wilson [15]
;
Helen,Stewart [15]
;
Solveig,Heide [16]
;
Caroline,Nava [16]
;
Boris,Keren [16]
;
Serwet,Demirdas [17]
;
Alice S,Brooks [17]
;
Marie,Vincent [18]
;
Bertrand,Isidor [18]
;
Sebastien,Küry [18]
;
Meyke,Schouten [2]
;
Erika,Leenders [2]
;
Wendy K,Chung [19]
;
Arie van,Haeringen [20]
;
Thomas,Scheffner [21]
;
Francois-Guillaume,Debray [22]
;
Susan M,White [23]
;
Maria Irene Valenzuela,Palafoll [24]
;
Rolph,Pfundt [2]
;
Ruth,Newbury-Ecob [25]
;
Tjitske,Kleefstra [2]
作者单位：
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK. meena.balasubramanian@nhs.net.;Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK. meena.balasubramanian@nhs.net.
[1]
Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
[2]
Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
[3]
Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Trust, Newcastle, UK.
[4]
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
[5]
West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.
[6]
Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.;Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.
[7]
East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge, UK.
[8]
All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
[9]
West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.;Department of Biological and Medical Sciences, Oxford Brookes University, Oxford, UK.
[10]
Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.;Department of Medical Genetics, La Timone Children's Hospital, Marseille, France.;Biological Resource Center (CRB-TAC), Assistance Publique Hôpitaux de Marseille, La Timone Children's Hospital, Marseille, France.
[11]
Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
[12]
Leicester Clinical Genetics Service, University Hospitals of Leicester NHS Trust, Leicester, UK.
[13]
Clinical Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.
[14]
Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
[15]
Clinical Genetics Service, GH Pitié-Salpêtrière, Pitié Salpêtrière Hospital, APHP Sorbonne University, Paris, France.
[16]
Department of Clinical Genetics, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands.
[17]
Service de Génétique Médicale, CHU de Nantes, 44000, Nantes, France.;Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000, Nantes, France.
[18]
Departments of Pediatrics and Medicine, Columbia University, New York, USA.
[19]
Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
[20]
Klinik für Kinder- und Jugendmedizin, Perinatal- und Stoffwechselzentrum, Reutlingen, Germany.
[21]
Metabolic Unit-Department of Medical Genetics, CHU & University Liège Domaine L Sart-Tilman Bât B35, B-4000, Liège, Belgium.
[22]
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.;Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
[23]
Department of Clinical and Molecular Genetics, University Hospital Vall d´Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.
[24]
University Hospitals Bristol NHS Foundation Trust, Clinical Genetics, St. Michael's Hospital, Bristol, UK.
[25]
DOI
10.1038/s41431-020-00769-7
PMID
33437032
发布时间
2025-05-30
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