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Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
Akawi, Nadia; McRae, Jeremy; Ansari, Morad; Balasubramanian, Meena; Blyth, Moira; Brady, Angela F; Clayton, Stephen; Cole, Trevor; Deshpande, Charu; Fitzgerald, Tomas W; Foulds, Nicola; Francis, Richard; Gabriel, George; Gerety, Sebastian S; Goodship, Judith; Hobson, Emma; Jones, Wendy D; Joss, Shelagh; King, Daniel; Klena, Nikolai; Kumar, Ajith; Lees, Melissa; Lelliott, Chris; Lord, Jenny; McMullan, Dominic; O'Regan, Mary; Osio, Deborah; Piombo, Virginia; Prigmore, Elena; Rajan, Diana; Rosser, Elisabeth; Sifrim, Alejandro; Smith, Audrey; Swaminathan, Ganesh J; Turnpenny, Peter; Whitworth, James; Wright, Caroline F; Firth, Helen V; Barrett, Jeffrey C; Lo, Cecilia W; FitzPatrick, David R; Hurles, Matthew E.
Afiliação
  • Akawi N; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
  • McRae J; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
  • Ansari M; Medical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Western General Hospital, Edinburgh, UK.
  • Balasubramanian M; Sheffield Regional Genetics Services, Sheffield Children's National Health Service (NHS) Trust, Western Bank, Sheffield, UK.
  • Blyth M; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, UK.
  • Brady AF; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Harrow, UK.
  • Clayton S; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
  • Cole T; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
  • Deshpande C; South East Thames Regional Genetics Centre, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, UK.
  • Fitzgerald TW; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
  • Foulds N; Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton, UK.
  • Francis R; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, UK.
  • Gabriel G; Faculty of Medicine, University of Southampton, Southampton, UK.
  • Gerety SS; Department of Developmental Biology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
  • Goodship J; Department of Developmental Biology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
  • Hobson E; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
  • Jones WD; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK.
  • Joss S; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, UK.
  • King D; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
  • Klena N; West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute of Medical Genetics, Yorkhill Hospital, Glasgow, UK.
  • Kumar A; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
  • Lees M; Department of Developmental Biology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
  • Lelliott C; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, London, UK.
  • Lord J; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, London, UK.
  • McMullan D; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
  • O'Regan M; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
  • Osio D; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
  • Piombo V; West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute of Medical Genetics, Yorkhill Hospital, Glasgow, UK.
  • Prigmore E; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Clinical Genetics Department, Royal Devon and Exeter Hospital (Heavitree), Exeter, UK.
  • Rajan D; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
  • Rosser E; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
  • Sifrim A; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
  • Smith A; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, London, UK.
  • Swaminathan GJ; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
  • Turnpenny P; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, UK.
  • Whitworth J; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
  • Wright CF; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Clinical Genetics Department, Royal Devon and Exeter Hospital (Heavitree), Exeter, UK.
  • Firth HV; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
  • Barrett JC; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
  • Lo CW; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.
  • FitzPatrick DR; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
  • Hurles ME; Department of Developmental Biology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Nat Genet ; 47(11): 1363-9, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26437029
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Clinical_trials Limite: Female / Humans / Male País/Região como assunto: Europa Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Clinical_trials Limite: Female / Humans / Male País/Região como assunto: Europa Idioma: En Ano de publicação: 2015 Tipo de documento: Article