Alexandros Protonotarios

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...