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P. Elliott

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Open access Sep 2026

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

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 outcomes stratified by genotype status. METHODS A...

Luis R. Lopes, Nay Aung, S. van Duijvenboden et al. · 0 citations
Open access Oct 2026

Gene-specific reclassification patterns of variants in hypertrophic cardiomyopathy.

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 is, therefore, necessary. Likely pathogenic/pathog...

A. Bakalakos, Rebeca Lorca, A. Protonotarios et al. · 0 citations

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