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Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies.
O'Neill, Matthew J; Sala, Luca; Denjoy, Isabelle; Wada, Yuko; Kozek, Krystian; Crotti, Lia; Dagradi, Federica; Kotta, Maria-Christina; Spazzolini, Carla; Leenhardt, Antoine; Salem, Joe-Elie; Kashiwa, Asami; Ohno, Seiko; Tao, Ran; Roden, Dan M; Horie, Minoru; Extramiana, Fabrice; Schwartz, Peter J; Kroncke, Brett M.
Afiliación
  • O'Neill MJ; Vanderbilt University School of Medicine, Medical Scientist Training Program, Vanderbilt University, Nashville, TN.
  • Sala L; IRCCS, Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milano, Italy.
  • Denjoy I; Department of Cardiovascular Medicine, Hôpital Bichat, APHP, Université de Paris Cité, Paris, France.
  • Wada Y; Vanderbilt Center for Arrhythmia Research and Therapeutics (VanCART), Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN.
  • Kozek K; Vanderbilt University School of Medicine, Medical Scientist Training Program, Vanderbilt University, Nashville, TN.
  • Crotti L; IRCCS, Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milano, Italy.
  • Dagradi F; IRCCS, Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milano, Italy.
  • Kotta MC; IRCCS, Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milano, Italy.
  • Spazzolini C; IRCCS, Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milano, Italy.
  • Leenhardt A; Department of Cardiovascular Medicine, Hôpital Bichat, APHP, Université de Paris Cité, Paris, France.
  • Salem JE; Department of Cardiovascular Medicine, Hôpital Bichat, APHP, Université de Paris Cité, Paris, France.
  • Kashiwa A; Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine Kyoto, Japan.
  • Ohno S; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan.
  • Tao R; Department of Biostatistics, Vanderbilt University Medical Center, Nashville, TN.
  • Roden DM; Vanderbilt Center for Arrhythmia Research and Therapeutics (VanCART), Departments of Medicine, Pharmacology, and Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN.
  • Horie M; Department of Cardiovascular Medicine, Shiga University of Medical Science, Shiga, Japan.
  • Extramiana F; Department of Cardiovascular Medicine, Hôpital Bichat, APHP, Université de Paris Cité, Paris, France.
  • Schwartz PJ; IRCCS, Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milano, Italy.
  • Kroncke BM; Vanderbilt Center for Arrhythmia Research and Therapeutics (VanCART), Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN. Electronic address: brett.m.kroncke.1@vumc.org.
Genet Med ; 25(3): 100355, 2023 03.
Article en En | MEDLINE | ID: mdl-36496179

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Canal de Potasio KCNQ1 / Canalopatías Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Túnez

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Canal de Potasio KCNQ1 / Canalopatías Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Túnez