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Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Garrett, Alice; Loveday, Chey; King, Laura; Butler, Samantha; Robinson, Rachel; Horton, Carrie; Yussuf, Amal; Choi, Subin; Torr, Beth; Durkie, Miranda; Burghel, George J; Drummond, James; Berry, Ian; Wallace, Andrew; Callaway, Alison; Eccles, Diana; Tischkowitz, Marc; Tatton-Brown, Katrina; Snape, Katie; McVeigh, Terri; Izatt, Louise; Woodward, Emma R; Burnichon, Nelly; Gimenez-Roqueplo, Anne-Paule; Mazzarotto, Francesco; Whiffin, Nicola; Ware, James; Hanson, Helen; Pesaran, Tina; LaDuca, Holly; Buffet, Alexandre; Maher, Eamonn R; Turnbull, Clare.
Afiliação
  • Garrett A; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom.
  • Loveday C; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom.
  • King L; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom.
  • Butler S; Central and South Genomic Laboratory Hub, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom.
  • Robinson R; North East and Yorkshire Genomic Laboratory Hub, Central Lab, The Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.
  • Horton C; Ambry Genetics, Aliso Viejo, CA.
  • Yussuf A; Ambry Genetics, Aliso Viejo, CA.
  • Choi S; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom.
  • Torr B; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom.
  • Durkie M; North East and Yorkshire Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.
  • Burghel GJ; The Manchester Centre for Genomic Medicine and North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester, United Kingdom.
  • Drummond J; East Genomic Laboratory Hub, Cambridge University Hospitals Genomic Laboratory, Cambridge University Hospitals, Cambridge, United Kingdom.
  • Berry I; North East and Yorkshire Genomic Laboratory Hub, Central Lab, The Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.
  • Wallace A; The Manchester Centre for Genomic Medicine and North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester, United Kingdom.
  • Callaway A; Central and South Genomics Laboratory Hub, Wessex Regional Genetics Laboratory, Salisbury Hospital NHS Foundation Trust, Salisbury District Hospital, Salisbury, United Kingdom.
  • Eccles D; Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
  • Tischkowitz M; Department of Medical Genetics, University of Cambridge and Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; East Anglian Medical Genetics Unit, Cambridge University Hospitals NHS Trust, Cambridge, United Kingdom.
  • Tatton-Brown K; St. George's University, London, United Kingdom; Department of Clinical Genetics, St. George's University Hospitals NHS Foundation Trust, London, United Kingdom.
  • Snape K; St. George's University, London, United Kingdom; Department of Clinical Genetics, St. George's University Hospitals NHS Foundation Trust, London, United Kingdom.
  • McVeigh T; Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London, United Kingdom.
  • Izatt L; Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.
  • Woodward ER; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre (MAHSC), Manchester University NHS Foundation Trust, Manchester, United Kingdom; Division of Evolution and Genomic Sciences, School of Biological Sciences, Manchester Academic Health Sciences Centre (MAHSC), Universit
  • Burnichon N; University of Paris, PARCC, INSERM, Equipe Labellisée par la Ligue contre le Cancer, Paris, France; Genetics Department, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France.
  • Gimenez-Roqueplo AP; University of Paris, PARCC, INSERM, Equipe Labellisée par la Ligue contre le Cancer, Paris, France; Genetics Department, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France.
  • Mazzarotto F; National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom; Royal Brompton and Harefield Hospitals, London, United Kingdom.
  • Whiffin N; The Wellcome Centre for Human Genetics, University of Oxford, Oxford, United Kingdom; The Centre for Personalised Medicine, St Anne's College, University of Oxford, Oxford, United Kingdom.
  • Ware J; National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom; Royal Brompton and Harefield Hospitals, London, United Kingdom.
  • Hanson H; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom; Department of Clinical Genetics, St. George's University Hospitals NHS Foundation Trust, London, United Kingdom.
  • Pesaran T; Ambry Genetics, Aliso Viejo, CA.
  • LaDuca H; Ambry Genetics, Aliso Viejo, CA.
  • Buffet A; University of Paris, PARCC, INSERM, Equipe Labellisée par la Ligue contre le Cancer, Paris, France; Genetics Department, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France.
  • Maher ER; Department of Medical Genetics, University of Cambridge and Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
  • Turnbull C; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom; Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London, United Kingdom. Electronic address: clare.turnbull@icr.ac.uk.
Genet Med ; 24(1): 41-50, 2022 01.
Article em En | MEDLINE | ID: mdl-34906457
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Succinato Desidrogenase / Neoplasias das Glândulas Suprarrenais Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Succinato Desidrogenase / Neoplasias das Glândulas Suprarrenais Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido