换一批The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variants.
第一作者：
Katrina,Tatton-Brown
第一单位：
Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK.;South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.;St George's University of London, London, UK.
作者：
Katrina,Tatton-Brown [1]
;
Anna,Zachariou [2]
;
Chey,Loveday [2]
;
Anthony,Renwick [2]
;
Shazia,Mahamdallie [2]
;
Lise,Aksglaede [3]
;
Diana,Baralle [4]
;
Daniela,Barge-Schaapveld [5]
;
Moira,Blyth [6]
;
Mieke,Bouma [7]
;
Jeroen,Breckpot [8]
;
Beau,Crabb [9]
;
Tabib,Dabir [10]
;
Valerie,Cormier-Daire [11]
;
Christine,Fauth [12]
;
Richard,Fisher [13]
;
Blanca,Gener [14]
;
David,Goudie [15]
;
Tessa,Homfray [16]
;
Matthew,Hunter [17]
;
Agnete,Jorgensen [18]
;
Sarina G,Kant [5]
;
Cathy,Kirally-Borri [19]
;
David,Koolen [20]
;
Ajith,Kumar [21]
;
Anatalia,Labilloy [22]
;
Melissa,Lees [21]
;
Carlo,Marcelis [20]
;
Catherine,Mercer [4]
;
Cyril,Mignot [23]
;
Kathryn,Miller [24]
;
Katherine,Neas [25]
;
Ruth,Newbury-Ecob [26]
;
Daniela T,Pilz [27]
;
Renata,Posmyk [28]
;
Carlos,Prada [22]
;
Keri,Ramsey [29]
;
Linda M,Randolph [30]
;
Angelo,Selicorni [31]
;
Deborah,Shears [32]
;
Mohnish,Suri [33]
;
I Karen,Temple [4]
;
Peter,Turnpenny [34]
;
Lionel,Val Maldergem [35]
;
Vinod,Varghese [36]
;
Hermine E,Veenstra-Knol [37]
;
Naomi,Yachelevich [38]
;
Laura,Yates [13]
;
Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study [39]
;
Deciphering Developmental Disorders (DDD) Study ;
Nazneen,Rahman
作者单位：
Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK.;South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.;St George's University of London, London, UK.
[1]
Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
[2]
Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.
[3]
Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southhampton, UK.
[4]
Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands.
[5]
Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, UK.
[6]
Elver Intellectual Disability Centre, Nieuw Wehl, Netherlands.
[7]
Center for Human Genetics, University Hospitals and KU Leuven, Leuven, Belgium.
[8]
Genetics Department, Children's Hospitals and Clinics of Minneapolis, Minneapolis, MN, USA.
[9]
Northern Ireland Regional Genetics Centre, Clinical Genetics Service, Belfast City Hospital, Belfast, UK.
[10]
INSERM UMR1163, IMAGINE Institute affiliate, Paris, France.
[11]
Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
[12]
Teesside Genetics Unit, The James Cook University Hospital, Middlesbrough, UK.
[13]
Department of Genetics, Cruces University Hospital, Biocruces Health Research Institute, centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Basque Country, Spain.
[14]
Department of Human Genetics, Ninewells Hospital and Medical School, Dundee, UK.
[15]
South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.;St George's University of London, London, UK.
[16]
Monash Genetics, Monash Health, Melbourne, Australia.;Department of Paediatrics, Monash University, Melbourne, Australia.
[17]
Division of Child and Adolescent Health, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.
[18]
Department of Health, Genetic Services of Western Australia, Subiaco, Australia.
[19]
Department of Human Genetics and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.
[20]
North East Thames Regional Genetics Service and Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.
[21]
Department of Pediatrics, University of Cincinnati, College of Medicine, Division of Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.;Hospital Internacional de Colombia, Floridablanca, Colombia.
[22]
Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares, Assistance Publique - Hôpitaux de Paris , Paris, France.
[23]
Albany Medical Center, New York, NY, USA.
[24]
Genetic Health Service New Zealand, Wellington, New Zealand.
[25]
University Hospitals Bristol NHS Trust/University of Bristol, Bristol, UK.
[26]
West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital,, Glasgow, UK.
[27]
Department of Clinical Genetics, Podlaskie Medical Center, Bialystok, Poland.;Department of Perinatology and Obstetrics, Medical University in Bialystok, Bialystok, Poland.
[28]
Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.
[29]
Division of Medical Genetics, Children's Hospital Los Angeles, University of Southern California/ Keck School of Medicine, Los Angeles, CA, USA.
[30]
UOC Pediatria ASST Laraina, Como, Italy.
[31]
Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
[32]
Nottingham Clinical Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK.
[33]
Peninsula Clinical Genetics, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
[34]
Centre de Génétique Humaine and Integrative and Cognitive Neuroscience Research Unit EA481, Besançon, Besançon, France.
[35]
Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
[36]
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
[37]
Clinical Genetics Services, New York University Hospitals Center, New York University, New York, NY, USA.
[38]
Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK.;Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London, UK.
[39]
DOI
10.12688/wellcomeopenres.14430.1
PMID
29900417
发布时间
2025-05-30
- 浏览6
Wellcome open research
Wellcome open research
2018年3卷
46页
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