Alexandros Protonotarios

Gene-specific reclassification patterns of variants in hypertrophic cardiomyopathy

Abstract Genetic variant interpretation in hypertrophic cardiomyopathy (HCM) evolves as population reference datasets expand, gene–disease validity assessments examine new candidate genes and additional functional and segregation evidence accumulates. Periodic re-interpretation i...

An Updated Evidence Assessment of the Genetic Causes of Dilated Cardiomyopathy

BACKGROUND: Evidence of the diverse genetic architecture of dilated cardiomyopathy (DCM) continues to emerge and requires reassessment of the clinical relevance of implicated disease genes. Building on the 2019-2020 Clinical Genome Resource evaluation, the DCM gene curation exper...

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score

ABSTRACT Background Hypertrophic cardiomyopathy (HCM) is a heritable trait with marked variability in expression and outcomes. Our aims were to discover new genetic loci associated with HCM and to test the effect of a new polygenic risk score (PRS) on incidence, phenotype and out...