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Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants.

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Title: Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants.
Authors: Ferguson AC; Centre for Medical Informatics (A.C.F., D.H., A.T., K.Rannikmae), Usher Institute, University of Edinburgh; Edinburgh Medical School (S.T., E.W.), University of Edinburgh; Centre for Cardiovascular Science (B.C.), The Queen's Medical Research Institute, University of Edinburgh; Centre for Clinical Brain Sciences (M.M.), University of Edinburgh, United Kingdom; Institute for Stroke and Dementia Research (ISD) (R.M.), University Hospital, LMU Munich, Germany; The Roslin Institute (K. Rawlik, A.T.), University of Edinburgh; MRC Human Genetics Unit (A.T.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital; and BHF Data Science Centre (C.S.), Health Death Research UK, London, United Kingdom., Thrippleton S; Centre for Medical Informatics (A.C.F., D.H., A.T., K.Rannikmae), Usher Institute, University of Edinburgh; Edinburgh Medical School (S.T., E.W.), University of Edinburgh; Centre for Cardiovascular Science (B.C.), The Queen's Medical Research Institute, University of Edinburgh; Centre for Clinical Brain Sciences (M.M.), University of Edinburgh, United Kingdom; Institute for Stroke and Dementia Research (ISD) (R.M.), University Hospital, LMU Munich, Germany; The Roslin Institute (K. Rawlik, A.T.), University of Edinburgh; MRC Human Genetics Unit (A.T.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital; and BHF Data Science Centre (C.S.), Health Death Research UK, London, United Kingdom., Henshall D; Centre for Medical Informatics (A.C.F., D.H., A.T., K.Rannikmae), Usher Institute, University of Edinburgh; Edinburgh Medical School (S.T., E.W.), University of Edinburgh; Centre for Cardiovascular Science (B.C.), The Queen's Medical Research Institute, University of Edinburgh; Centre for Clinical Brain Sciences (M.M.), University of Edinburgh, United Kingdom; Institute for Stroke and Dementia Research (ISD) (R.M.), University Hospital, LMU Munich, Germany; The Roslin Institute (K. Rawlik, A.T.), University of Edinburgh; MRC Human Genetics Unit (A.T.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital; and BHF Data Science Centre (C.S.), Health Death Research UK, London, United Kingdom., Whittaker E; Centre for Medical Informatics (A.C.F., D.H., A.T., K.Rannikmae), Usher Institute, University of Edinburgh; Edinburgh Medical School (S.T., E.W.), University of Edinburgh; Centre for Cardiovascular Science (B.C.), The Queen's Medical Research Institute, University of Edinburgh; Centre for Clinical Brain Sciences (M.M.), University of Edinburgh, United Kingdom; Institute for Stroke and Dementia Research (ISD) (R.M.), University Hospital, LMU Munich, Germany; The Roslin Institute (K. Rawlik, A.T.), University of Edinburgh; MRC Human Genetics Unit (A.T.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital; and BHF Data Science Centre (C.S.), Health Death Research UK, London, United Kingdom., Conway B; Centre for Medical Informatics (A.C.F., D.H., A.T., K.Rannikmae), Usher Institute, University of Edinburgh; Edinburgh Medical School (S.T., E.W.), University of Edinburgh; Centre for Cardiovascular Science (B.C.), The Queen's Medical Research Institute, University of Edinburgh; Centre for Clinical Brain Sciences (M.M.), University of Edinburgh, United Kingdom; Institute for Stroke and Dementia Research (ISD) (R.M.), University Hospital, LMU Munich, Germany; The Roslin Institute (K. Rawlik, A.T.), University of Edinburgh; MRC Human Genetics Unit (A.T.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital; and BHF Data Science Centre (C.S.), Health Death Research UK, London, United Kingdom., MacLeod M; Centre for Medical Informatics (A.C.F., D.H., A.T., K.Rannikmae), Usher Institute, University of Edinburgh; Edinburgh Medical School (S.T., E.W.), University of Edinburgh; Centre for Cardiovascular Science (B.C.), The Queen's Medical Research Institute, University of Edinburgh; Centre for Clinical Brain Sciences (M.M.), University of Edinburgh, United Kingdom; Institute for Stroke and Dementia Research (ISD) (R.M.), University Hospital, LMU Munich, Germany; The Roslin Institute (K. Rawlik, A.T.), University of Edinburgh; MRC Human Genetics Unit (A.T.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital; and BHF Data Science Centre (C.S.), Health Death Research UK, London, United Kingdom., Malik R; Centre for Medical Informatics (A.C.F., D.H., A.T., K.Rannikmae), Usher Institute, University of Edinburgh; Edinburgh Medical School (S.T., E.W.), University of Edinburgh; Centre for Cardiovascular Science (B.C.), The Queen's Medical Research Institute, University of Edinburgh; Centre for Clinical Brain Sciences (M.M.), University of Edinburgh, United Kingdom; Institute for Stroke and Dementia Research (ISD) (R.M.), University Hospital, LMU Munich, Germany; The Roslin Institute (K. Rawlik, A.T.), University of Edinburgh; MRC Human Genetics Unit (A.T.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital; and BHF Data Science Centre (C.S.), Health Death Research UK, London, United Kingdom., Rawlik K; Centre for Medical Informatics (A.C.F., D.H., A.T., K.Rannikmae), Usher Institute, University of Edinburgh; Edinburgh Medical School (S.T., E.W.), University of Edinburgh; Centre for Cardiovascular Science (B.C.), The Queen's Medical Research Institute, University of Edinburgh; Centre for Clinical Brain Sciences (M.M.), University of Edinburgh, United Kingdom; Institute for Stroke and Dementia Research (ISD) (R.M.), University Hospital, LMU Munich, Germany; The Roslin Institute (K. Rawlik, A.T.), University of Edinburgh; MRC Human Genetics Unit (A.T.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital; and BHF Data Science Centre (C.S.), Health Death Research UK, London, United Kingdom., Tenesa A; Centre for Medical Informatics (A.C.F., D.H., A.T., K.Rannikmae), Usher Institute, University of Edinburgh; Edinburgh Medical School (S.T., E.W.), University of Edinburgh; Centre for Cardiovascular Science (B.C.), The Queen's Medical Research Institute, University of Edinburgh; Centre for Clinical Brain Sciences (M.M.), University of Edinburgh, United Kingdom; Institute for Stroke and Dementia Research (ISD) (R.M.), University Hospital, LMU Munich, Germany; The Roslin Institute (K. Rawlik, A.T.), University of Edinburgh; MRC Human Genetics Unit (A.T.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital; and BHF Data Science Centre (C.S.), Health Death Research UK, London, United Kingdom., Sudlow C; Centre for Medical Informatics (A.C.F., D.H., A.T., K.Rannikmae), Usher Institute, University of Edinburgh; Edinburgh Medical School (S.T., E.W.), University of Edinburgh; Centre for Cardiovascular Science (B.C.), The Queen's Medical Research Institute, University of Edinburgh; Centre for Clinical Brain Sciences (M.M.), University of Edinburgh, United Kingdom; Institute for Stroke and Dementia Research (ISD) (R.M.), University Hospital, LMU Munich, Germany; The Roslin Institute (K. Rawlik, A.T.), University of Edinburgh; MRC Human Genetics Unit (A.T.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital; and BHF Data Science Centre (C.S.), Health Death Research UK, London, United Kingdom., Rannikmae K; Centre for Medical Informatics (A.C.F., D.H., A.T., K.Rannikmae), Usher Institute, University of Edinburgh; Edinburgh Medical School (S.T., E.W.), University of Edinburgh; Centre for Cardiovascular Science (B.C.), The Queen's Medical Research Institute, University of Edinburgh; Centre for Clinical Brain Sciences (M.M.), University of Edinburgh, United Kingdom; Institute for Stroke and Dementia Research (ISD) (R.M.), University Hospital, LMU Munich, Germany; The Roslin Institute (K. Rawlik, A.T.), University of Edinburgh; MRC Human Genetics Unit (A.T.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital; and BHF Data Science Centre (C.S.), Health Death Research UK, London, United Kingdom.
Source: Neurology. Genetics [Neurol Genet] 2022 Aug 24; Vol. 8 (5), pp. e200015. Date of Electronic Publication: 2022 Aug 24 (Print Publication: 2022).
Publication Type: Journal Article
Journal Info: Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE
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  Data: Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants.
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  Data: <searchLink fieldCode="AU" term="%22Ferguson+AC%22">Ferguson AC</searchLink>; Centre for Medical Informatics (A.C.F., D.H., A.T., K.Rannikmae), Usher Institute, University of Edinburgh; Edinburgh Medical School (S.T., E.W.), University of Edinburgh; Centre for Cardiovascular Science (B.C.), The Queen's Medical Research Institute, University of Edinburgh; Centre for Clinical Brain Sciences (M.M.), University of Edinburgh, United Kingdom; Institute for Stroke and Dementia Research (ISD) (R.M.), University Hospital, LMU Munich, Germany; The Roslin Institute (K. 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Rawlik, A.T.), University of Edinburgh; MRC Human Genetics Unit (A.T.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital; and BHF Data Science Centre (C.S.), Health Death Research UK, London, United Kingdom.
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