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Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome-Associated Variants.

Autor: Ma JG; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (J.G.M., J.I.V., C.-A.N.).; School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia (J.G.M., J.I.V., C.-A.N.)., O'Neill MJ; Vanderbilt University School of Medicine, Nashville, TN (M.J.O., A.M.)., Richardson E; Clinical Genomics Laboratory, Center for Population Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia (E.R., J.I.).; Murdoch Children's Research Institute, Melbourne, Victoria, Australia (E.R., J.I.)., Thomson KL; Oxford Genetics Laboratories, Churchill Hospital, Oxford, United Kingdom (K.L.T.)., Ingles J; Clinical Genomics Laboratory, Center for Population Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia (E.R., J.I.).; Murdoch Children's Research Institute, Melbourne, Victoria, Australia (E.R., J.I.)., Muhammad A; Vanderbilt University School of Medicine, Nashville, TN (M.J.O., A.M.)., Solus JF; Vanderbilt Center for Arrhythmia Research and Therapeutics (Van-CART), Department of Medicine, Vanderbilt University Medical Center, Nashville, TN (J.F.S., G.D., M.B.S., D.M.R., A.M.G.)., Davogustto G; Vanderbilt Center for Arrhythmia Research and Therapeutics (Van-CART), Department of Medicine, Vanderbilt University Medical Center, Nashville, TN (J.F.S., G.D., M.B.S., D.M.R., A.M.G.)., Anderson KC, Shoemaker MB; Vanderbilt Center for Arrhythmia Research and Therapeutics (Van-CART), Department of Medicine, Vanderbilt University Medical Center, Nashville, TN (J.F.S., G.D., M.B.S., D.M.R., A.M.G.)., Stergachis AB; Department of Medicine, University of Washington School of Medicine, Seattle, WA (A.B.S.)., Floyd BJ; Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, CA (B.J.F., K.D., V.N.P., H.C.)., Dunn K; Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, CA (B.J.F., K.D., V.N.P., H.C.)., Parikh VN; Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, CA (B.J.F., K.D., V.N.P., H.C.)., Chubb H; Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, CA (B.J.F., K.D., V.N.P., H.C.)., Perrin MJ; Department of Genomic Medicine, Royal Melbourne Hospital, Victoria, Australia (M.J.P.)., Roden DM; Vanderbilt Center for Arrhythmia Research and Therapeutics (Van-CART), Department of Medicine, Vanderbilt University Medical Center, Nashville, TN (J.F.S., G.D., M.B.S., D.M.R., A.M.G.).; Departments of Pharmacology and Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN (D.M.R.)., Vandenberg JI; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (J.G.M., J.I.V., C.-A.N.).; School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia (J.G.M., J.I.V., C.-A.N.)., Ng CA; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (J.G.M., J.I.V., C.-A.N.).; School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia (J.G.M., J.I.V., C.-A.N.)., Glazer AM; Vanderbilt Center for Arrhythmia Research and Therapeutics (Van-CART), Department of Medicine, Vanderbilt University Medical Center, Nashville, TN (J.F.S., G.D., M.B.S., D.M.R., A.M.G.).

Publikováno v: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2024 Aug; Vol. 17 (4), pp. e004569. Date of Electronic Publication: 2024 Jul 02.