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Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.

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Title: Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Authors: 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.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Stephens JC; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; 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.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Greene D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.; Department of Haematology, Addenbrooke's Hospital, Cambridge Biomedical Campus, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Gleadall N; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Althaus K; Institute for Immunology and Transfusion Medicine, Universitätsmedizin Greifswald Ernst-Moritz-Arndt University Greifswald, Greifswald, Germany.; Transfusion Medicine, Medical Faculty Tübingen, Tübingen, Germany., Allsup D; Hull York Medical School, University of Hull, York, UK., Bariana TK; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.; The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, London, UK., Bonduel M; Hematology/Oncology Department, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan', Buenos Aires, Argentina., Butta NV; Servicio de Hematología y Hemoterapia Hospital, Universitario La Paz-IDIPaz, Madrid, Spain., Collins P; Arthur Bloom Haemophilia Centre, Institute of Infection and Immunity, School of Medicine, Cardiff University, UK., Curry N; Department of Clinical Haematology, Oxford Haemophilia and Thrombosis Centre, Oxford University Hospitals NHS Trust, Churchill Hospital, Oxford, UK., Deevi SVV; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Downes K; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Duarte D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Elliott K; 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., Falcinelli E; Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy., Furie B; Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts., Keeling D; Churchill Hospital, Oxford University Hospitals, UK., Lambert MP; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Linger R; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Mangles S; Basingstoke and Hampshire Hospital, NHS Foundation Trust, UK., Mapeta R; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Millar CM; Hampshire Hospital NHS Foundation Trust, UK.; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, London, UK., Penkett C; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Perry DJ; Department of Haematology, Addenbrooke's Hospital, Cambridge Biomedical Campus, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Stirrups KE; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Turro E; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.; Medical Research Council Biostatistics Unit, Cambridge Biomedical Campus, Cambridge Institute of Public Health, Cambridge, UK., Westbury SK; School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK., Wu J; British Columbia Children's Hospital, Vancouver, Canada., BioResource N; NIHR BioResource, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Gomez K; Transfusion Medicine, Medical Faculty Tübingen, Tübingen, Germany., Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium., Ouwehand WH; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK.; Wellcome Trust Genome Campus, Wellcome Trust Sanger Institute, Cambridge, UK., Gresele P; Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy., Simeoni I; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.
Source: Human mutation [Hum Mutat] 2020 Jan; Vol. 41 (1), pp. 277-290. Date of Electronic Publication: 2019 Oct 15.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Bury+L%22">Bury L</searchLink>; Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy.<br /><searchLink fieldCode="AU" term="%22Megy+K%22">Megy K</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Stephens+JC%22">Stephens JC</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Grassi+L%22">Grassi L</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Greene+D%22">Greene D</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.; Department of Haematology, Addenbrooke's Hospital, Cambridge Biomedical Campus, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Gleadall+N%22">Gleadall N</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Althaus+K%22">Althaus K</searchLink>; Institute for Immunology and Transfusion Medicine, Universitätsmedizin Greifswald Ernst-Moritz-Arndt University Greifswald, Greifswald, Germany.; Transfusion Medicine, Medical Faculty Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Allsup+D%22">Allsup D</searchLink>; Hull York Medical School, University of Hull, York, UK.<br /><searchLink fieldCode="AU" term="%22Bariana+TK%22">Bariana TK</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.; The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Bonduel+M%22">Bonduel M</searchLink>; Hematology/Oncology Department, Hospital de Pediatría 'Prof. Dr. Juan P. 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