Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

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第一作者： Jodie,Ingles

第一单位： Agnes Ginges Centre for Molecular Cardiology at Centenary Institute and Faculty of Medicine and Health, The University of Sydney, University of Sydney, Australia (J.I., C.S.).;Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia (J.I., C.S.).

作者： Jodie,Ingles ^[1] ; Jennifer,Goldstein ^[2] ; Courtney,Thaxton ^[2] ; Colleen,Caleshu ^[3] ; Edward W,Corty ^[2] ; Stephanie B,Crowley ^[2] ; Kristen,Dougherty ^[4] ; Steven M,Harrison ^[5] ; Jennifer,McGlaughon ^[2] ; Laura V,Milko ^[2] ; Ana,Morales ^[6] ; Bryce A,Seifert ^[2] ; Natasha,Strande ^[2] ; Kate,Thomson ^[7] ; J,Peter van Tintelen ^[8] ; Kathleen,Wallace ^[2] ; Roddy,Walsh ^[9] ; Quinn,Wells ^[10] ; Nicola,Whiffin ^[9] ; Leora,Witkowski ^[11] ; Christopher,Semsarian ^[1] ; James S,Ware ^[9] ; Ray E,Hershberger ^[12] ; Birgit,Funke ^[11]

作者单位： Agnes Ginges Centre for Molecular Cardiology at Centenary Institute and Faculty of Medicine and Health, The University of Sydney, University of Sydney, Australia (J.I., C.S.).;Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia (J.I., C.S.). ^[1] Department of Genetics, UNC Chapel Hill, NC (J.G., C.T., E.W.C., S.B.C., J.M., L.V.M., B.A.S., N.S., K.W.). ^[2] Stanford Center for Inherited Cardiovascular Disease, Stanford University, CA (C.C.). ^[3] Eastern Virginia Medical School, Norfolk, VA (K.D.). ^[4] Laboratory for Molecular Medicine, Partners Healthcare, Harvard Medical School, Cambridge, MA (S.M.H.). ^[5] Division of Human Genetics, Davis Heart and Lung Research Institute (A.M., R.E.H.). ^[6] Oxford Medical Genetics Laboratory, United Kingdom (K.T.). ^[7] Department of Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, Cardiovascular Sciences, The Netherlands (J.P.v.T.). ^[8] National Heart and Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, United Kingdom (R.W., N.W., J.S.W.).;Cardiovascular Research Centre at Royal Brompton & Harefield Hospitals NHS Trust, London, United Kingdom (R.W., N.W., J.S.W.). ^[9] Department of Medicine, Vanderbilt University Medical Center, Nashville, TN (Q.W.). ^[10] Department of Pathology, Harvard Medical School/Massachusetts General Hospital, Boston (L.W., B.F.). ^[11] Division of Human Genetics, Davis Heart and Lung Research Institute (A.M., R.E.H.).;Division of Cardiovascular Medicine, The Ohio State University, Columbus (R.E.H.). ^[12]

关键词 genetic testing heart failure syndrome uncertainty

主题词心肌病, 肥大性, 家族性(Cardiomyopathy, Hypertrophic, Familial);疾病遗传易感性(Genetic Predisposition to Disease);基因检测(Genetic Testing);人类(Humans);表型(Phenotype)

DOI 10.1161/CIRCGEN.119.002460

PMID 30681346

发布时间 2023-11-15

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Circulation. Genomic and precision medicine

2019年12卷2期

e002460页

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