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Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Bury, Loredana; Megy, Karyn; Stephens, Jonathan C; Grassi, Luigi; Greene, Daniel; Gleadall, Nick; Althaus, Karina; Allsup, David; Bariana, Tadbir K; Bonduel, Mariana; Butta, Nora V; Collins, Peter; Curry, Nicola; Deevi, Sri V V; Downes, Kate; Duarte, Daniel; Elliott, Kim; Falcinelli, Emanuela; Furie, Bruce; Keeling, David; Lambert, Michele P; Linger, Rachel; Mangles, Sarah; Mapeta, Rutendo; Millar, Carolyn M; Penkett, Christopher; Perry, David J; Stirrups, Kathleen E; Turro, Ernest; Westbury, Sarah K; Wu, John; BioResource, Nihr; Gomez, Keith; Freson, Kathleen; Ouwehand, Willem H; Gresele, Paolo; Simeoni, Ilenia.
Affiliation
  • Bury L; Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy.
  • Megy K; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Stephens JC; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.
  • Grassi L; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Greene D; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.
  • Gleadall N; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Althaus K; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.
  • Allsup D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Bariana TK; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.
  • Bonduel M; Department of Haematology, Addenbrooke's Hospital, Cambridge Biomedical Campus, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Butta NV; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Collins P; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.
  • Curry N; Institute for Immunology and Transfusion Medicine, Universitätsmedizin Greifswald Ernst-Moritz-Arndt University Greifswald, Greifswald, Germany.
  • Deevi SVV; Transfusion Medicine, Medical Faculty Tübingen, Tübingen, Germany.
  • Downes K; Hull York Medical School, University of Hull, York, UK.
  • Duarte D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Elliott K; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.
  • Falcinelli E; The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, London, UK.
  • Furie B; Hematology/Oncology Department, Hospital de Pediatría "Prof. Dr. Juan P. Garrahan", Buenos Aires, Argentina.
  • Keeling D; Servicio de Hematología y Hemoterapia Hospital, Universitario La Paz-IDIPaz, Madrid, Spain.
  • Lambert MP; Arthur Bloom Haemophilia Centre, Institute of Infection and Immunity, School of Medicine, Cardiff University, UK.
  • Linger R; Department of Clinical Haematology, Oxford Haemophilia and Thrombosis Centre, Oxford University Hospitals NHS Trust, Churchill Hospital, Oxford, UK.
  • Mangles S; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Mapeta R; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.
  • Millar CM; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Penkett C; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.
  • Perry DJ; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Stirrups KE; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.
  • Turro E; Oxford Haemophilia & Thrombosis Centre, Department of Haematology, Oxford University Hospitals NHS Trust, Churchill Hospital, Oxford and the NIHR BRC, Blood Theme, Oxford Centre for Haematology, Oxford, UK.
  • Westbury SK; Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy.
  • Wu J; Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts.
  • BioResource N; Churchill Hospital, Oxford University Hospitals, UK.
  • Gomez K; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
  • Freson K; Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Ouwehand WH; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Gresele P; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.
  • Simeoni I; Basingstoke and Hampshire Hospital, NHS Foundation Trust, UK.
Hum Mutat ; 41(1): 277-290, 2020 01.
Article in En | MEDLINE | ID: mdl-31562665
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Myosin Heavy Chains / Genetic Predisposition to Disease / Genetic Association Studies / High-Throughput Nucleotide Sequencing Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: Italy
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Myosin Heavy Chains / Genetic Predisposition to Disease / Genetic Association Studies / High-Throughput Nucleotide Sequencing Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: Italy