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Material Type: Artigo
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Prevalence and Electronic Health Record-Based Phenotype of Loss-of-Function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-Associated GenesCarruth, Eric D. ; Young, Wilson ; Beer, Dominik ; James, Cynthia A. ; Calkins, Hugh ; Jing, Linyuan ; Raghunath, Sushravya ; Hartzel, Dustin N. ; Leader, Joseph B. ; Kirchner, H. Lester ; Smelser, Diane T. ; Carey, David J. ; Kelly, Melissa A. ; Sturm, Amy C. ; Alsaid, Amro ; Fornwalt, Brandon K. ; Haggerty, Christopher M.Circulation. Genomic and precision medicine, 2019-11, Vol.12 (11), p.e002579-e002579 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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Loss-of-Function FLNC Variants Are Associated With Arrhythmogenic Cardiomyopathy Phenotypes When Identified Through Exome Sequencing of a General Clinical PopulationCarruth, Eric D ; Qureshi, Maria ; Alsaid, Amro ; Kelly, Melissa A ; Calkins, Hugh ; Murray, Brittney ; Tichnell, Crystal ; Sturm, Amy C ; Baras, Aris ; Lester Kirchner, H ; Fornwalt, Brandon K ; James, Cynthia A ; Haggerty, Christopher MCirculation. Genomic and precision medicine, 2022-08, Vol.15 (4), p.e003645-e003645 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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Clinical Findings and Diagnostic Yield of Arrhythmogenic Cardiomyopathy Through Genomic Screening of Pathogenic or Likely Pathogenic Desmosome Gene VariantsCarruth, Eric D ; Beer, Dominik ; Alsaid, Amro ; Schwartz, Marci L B ; McMinn, Megan ; Kelly, Melissa A ; Buchanan, Adam H ; Nevius, Christopher D ; Calkins, Hugh ; James, Cynthia A ; Murray, Brittney ; Tichnell, Crystal ; Matsumura, Martin E ; Kirchner, H Lester ; Fornwalt, Brandon K ; Sturm, Amy C ; Haggerty, Christopher MCirculation. Genomic and precision medicine, 2021-04, Vol.14 (2), p.e003302-e003302 [Periódico revisado por pares]United States: Lippincott Williams & WilkinsTexto completo disponível |
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Material Type: Artigo
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Abstract 13159: Subclinical Cardiac Magnetic Resonance Imaging Reveals Subtle Myocardial Tissue Abnormalities in Individuals With Arrhythmogenic Cardiomyopathy-Associated Genetic VariantsCarruth, Eric D ; Fielden, Sam ; Alsaid, Amro ; Fornwalt, Brandon ; Haggerty, Christopher MCirculation (New York, N.Y.), 2021-11, Vol.144 (Suppl_1) [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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Abstract 18260: Association of Physical Activity History With Disease Penetrance in a Disease-Based Cohort Does Not Replicate in a Healthcare-Based Genomic Screening PopulationCarruth, Eric D ; Wang, Weijia ; Pendleton, Catherine ; Nevius, Christopher D ; Keefer, Rachel ; Tichnell, Crystal ; Murray, Brittney ; James, Cynthia A ; Haggerty, Christopher MCirculation (New York, N.Y.), 2023-11, Vol.148 (Suppl_1) [Periódico revisado por pares]Texto completo disponível |