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The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

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Title: The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Authors: Stefanucci L; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; British Heart Foundation, BHF Centre of Research Excellence, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom., Collins J; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, Barts Health NHS Trust, London, United Kingdom., Sims MC; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital, Sheffield, United Kingdom.; Department of Oncology and Metabolism, University of Sheffield, Sheffield, United Kingdom., Barrio-Hernandez I; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom., Sun L; Department of Public Health and Primary Care, BHF Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, United Kingdom., Burren OS; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, United Kingdom., Perfetto L; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom.; Department of Biology and Biotechnology 'C.Darwin,' Sapienza University of Rome, Rome, Italy., Bender I; Department of Biochemistry, University of Oxford, Oxford, United Kingdom., Callahan TJ; Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY., Fleming K; School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom., Guerrero JA; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, Barts Health NHS Trust, London, United Kingdom., Hermjakob H; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom., Martin MJ; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom., Stephenson J; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom., Paneerselvam K; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom., Petrovski S; Centre for Genomics Research, Discovery Sciences, AstraZeneca, Cambridge, United Kingdom.; Department of Medicine, Austin Health, The University of Melbourne, Melbourne, Australia., Porras P; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom., Robinson PN; Genomic Medicine, The Jackson Laboratory, Farmington, CT.; Institute for Systems Genomics, University of Connecticut, Farmington, CT., Wang Q; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, United Kingdom., Watkins X; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom., Frontini M; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; British Heart Foundation, BHF Centre of Research Excellence, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences RILD Building, University of Exeter Medical School, Exeter, United Kingdom., Laskowski RA; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom., Beltrao P; Institute of Molecular Systems Biology, ETH Zürich, Zürich, Switzerland., Di Angelantonio E; British Heart Foundation, BHF Centre of Research Excellence, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Public Health and Primary Care, BHF Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, United Kingdom.; Heart and Lung Research Institute, University of Cambridge, Cambridge, United Kingdom.; NIHR Blood and Transplant Research Unit in Donor Health and Behaviour, Cambridge, United Kingdom.; Health Data Research UK Cambridge, Wellcome Genome Campus and University of Cambridge, Cambridge, United Kingdom.; Health Data Science Centre, Human Technopole, Milan, Italy., Gomez K; Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, London, United Kingdom., Laffan M; Department of Haematology, Imperial College Healthcare NHS Trust, London, United Kingdom.; Department of Immunology and Inflammation, Centre for Haematology, Imperial College London, London, United Kingdom., Ouwehand WH; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University College London Hospitals NHS Trust, London, United Kingdom., Mumford AD; School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom., Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KULeuven, Leuven, Belgium., Carss K; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, United Kingdom., Downes K; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Cambridge Genomics Laboratory, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom., Gleadall N; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom., Megy K; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom., Bruford E; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom., Vuckovic D; Department of Epidemiology and Biostatistics, Imperial College London, London, United Kingdom.
Source: Blood [Blood] 2023 Dec 14; Vol. 142 (24), pp. 2055-2068.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
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  Data: <searchLink fieldCode="AU" term="%22Stefanucci+L%22">Stefanucci L</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; British Heart Foundation, BHF Centre of Research Excellence, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Collins+J%22">Collins J</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, Barts Health NHS Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Sims+MC%22">Sims MC</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital, Sheffield, United Kingdom.; Department of Oncology and Metabolism, University of Sheffield, Sheffield, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Barrio-Hernandez+I%22">Barrio-Hernandez I</searchLink>; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Sun+L%22">Sun L</searchLink>; Department of Public Health and Primary Care, BHF Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Burren+OS%22">Burren OS</searchLink>; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Perfetto+L%22">Perfetto L</searchLink>; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom.; Department of Biology and Biotechnology 'C.Darwin,' Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Bender+I%22">Bender I</searchLink>; Department of Biochemistry, University of Oxford, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Callahan+TJ%22">Callahan TJ</searchLink>; Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY.<br /><searchLink fieldCode="AU" term="%22Fleming+K%22">Fleming K</searchLink>; School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Guerrero+JA%22">Guerrero JA</searchLink>; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, Barts Health NHS Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hermjakob+H%22">Hermjakob H</searchLink>; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Martin+MJ%22">Martin MJ</searchLink>; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Stephenson+J%22">Stephenson J</searchLink>; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Paneerselvam+K%22">Paneerselvam K</searchLink>; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Petrovski+S%22">Petrovski S</searchLink>; Centre for Genomics Research, Discovery Sciences, AstraZeneca, Cambridge, United Kingdom.; Department of Medicine, Austin Health, The University of Melbourne, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Porras+P%22">Porras P</searchLink>; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Robinson+PN%22">Robinson PN</searchLink>; Genomic Medicine, The Jackson Laboratory, Farmington, CT.; Institute for Systems Genomics, University of Connecticut, Farmington, CT.<br /><searchLink fieldCode="AU" term="%22Wang+Q%22">Wang Q</searchLink>; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Watkins+X%22">Watkins X</searchLink>; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Frontini+M%22">Frontini M</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; British Heart Foundation, BHF Centre of Research Excellence, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences RILD Building, University of Exeter Medical School, Exeter, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Laskowski+RA%22">Laskowski RA</searchLink>; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Beltrao+P%22">Beltrao P</searchLink>; Institute of Molecular Systems Biology, ETH Zürich, Zürich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Di+Angelantonio+E%22">Di Angelantonio E</searchLink>; British Heart Foundation, BHF Centre of Research Excellence, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Public Health and Primary Care, BHF Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, United Kingdom.; Heart and Lung Research Institute, University of Cambridge, Cambridge, United Kingdom.; NIHR Blood and Transplant Research Unit in Donor Health and Behaviour, Cambridge, United Kingdom.; Health Data Research UK Cambridge, Wellcome Genome Campus and University of Cambridge, Cambridge, United Kingdom.; Health Data Science Centre, Human Technopole, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Gomez+K%22">Gomez K</searchLink>; Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Laffan+M%22">Laffan M</searchLink>; Department of Haematology, Imperial College Healthcare NHS Trust, London, United Kingdom.; Department of Immunology and Inflammation, Centre for Haematology, Imperial College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ouwehand+WH%22">Ouwehand WH</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Haematology, University College London Hospitals NHS Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Mumford+AD%22">Mumford AD</searchLink>; School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Freson+K%22">Freson K</searchLink>; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KULeuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Carss+K%22">Carss K</searchLink>; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Downes+K%22">Downes K</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Cambridge Genomics Laboratory, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Gleadall+N%22">Gleadall N</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Megy+K%22">Megy K</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Bruford+E%22">Bruford E</searchLink>; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Vuckovic+D%22">Vuckovic D</searchLink>; Department of Epidemiology and Biostatistics, Imperial College London, London, United Kingdom.
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