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Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Hyder, Zerin; Calpena, Eduardo; Pei, Yang; Tooze, Rebecca S; Brittain, Helen; Twigg, Stephen R F; Cilliers, Deirdre; Morton, Jenny E V; McCann, Emma; Weber, Astrid; Wilson, Louise C; Douglas, Andrew G L; McGowan, Ruth; Need, Anna; Bond, Andrew; Tavares, Ana Lisa Taylor; Thomas, Ellen R A; Hill, Susan L; Deans, Zandra C; Boardman-Pretty, Freya; Caulfield, Mark; Scott, Richard H; Wilkie, Andrew O M.
Afiliación
  • Hyder Z; Genomics England, London, UK.
  • Calpena E; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.
  • Pei Y; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Tooze RS; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Brittain H; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Twigg SRF; Genomics England, London, UK.
  • Cilliers D; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.
  • Morton JEV; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • McCann E; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Weber A; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.
  • Wilson LC; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
  • Douglas AGL; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
  • McGowan R; Clinical Genetics Service, Great Ormond Street Hospital, London, UK.
  • Need A; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Bond A; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Tavares ALT; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK.
  • Thomas ERA; Genomics England, London, UK.
  • Hill SL; Genomics England, London, UK.
  • Deans ZC; Genomics England, London, UK.
  • Boardman-Pretty F; South East Regional Genetics Service, Guy's and St Thomas' NHS Trust, London, UK.
  • Scott RH; Genomics Unit, NHS England & NHS Improvement, London, UK.
  • Wilkie AOM; Genomics Unit, NHS England & NHS Improvement, London, UK.
Genet Med ; 23(12): 2360-2368, 2021 12.
Article en En | MEDLINE | ID: mdl-34429528
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas / Craneosinostosis Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas / Craneosinostosis Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Reino Unido