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Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts.
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.
Cardiomyopathy, Hypertrophic, Familial
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
Genetic Misdiagnoses and the Potential for Health Disparities.
Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing: A Pilot Investigating Applications for Hypertrophic Cardiomyopathy.
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.
Pathogenicity of Hypertrophic Cardiomyopathy Variants: A Path Forward Together.
NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.