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Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.
Ellingford, Jamie M; Horn, Bradley; Campbell, Christopher; Arno, Gavin; Barton, Stephanie; Tate, Catriona; Bhaskar, Sanjeev; Sergouniotis, Panagiotis I; Taylor, Rachel L; Carss, Keren J; Raymond, Lucy F L; Michaelides, Michel; Ramsden, Simon C; Webster, Andrew R; Black, Graeme C M.
Afiliación
  • Ellingford JM; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St Mary's Hospital, Manchester, UK.
  • Horn B; Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Campbell C; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St Mary's Hospital, Manchester, UK.
  • Arno G; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St Mary's Hospital, Manchester, UK.
  • Barton S; Department of Genetics, UCL Institute of Ophthalmology, London, UK.
  • Tate C; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St Mary's Hospital, Manchester, UK.
  • Bhaskar S; Congenica, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Sergouniotis PI; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St Mary's Hospital, Manchester, UK.
  • Taylor RL; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St Mary's Hospital, Manchester, UK.
  • Carss KJ; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St Mary's Hospital, Manchester, UK.
  • Raymond LFL; Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Michaelides M; Department of Haematology, University of Cambridge NHS Blood and Transplant Centre, Cambridge, UK.
  • Ramsden SC; Department of NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.
  • Webster AR; Department of NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.
  • Black GCM; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
J Med Genet ; 55(2): 114-121, 2018 02.
Article en En | MEDLINE | ID: mdl-29074561
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Variaciones en el Número de Copia de ADN / Distrofias Retinianas / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Prognostic_studies / Screening_studies Idioma: En Revista: J Med Genet Año: 2018 Tipo del documento: Article
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Variaciones en el Número de Copia de ADN / Distrofias Retinianas / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Prognostic_studies / Screening_studies Idioma: En Revista: J Med Genet Año: 2018 Tipo del documento: Article