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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
Open access Aug 2026

The Yield of Clinical Screening in Pediatric Relatives of Hypertrophic Cardiomyopathy With Negative Genetic Testing.

The 5-year cumulative diagnostic yield of screening childhood relatives is twofold higher in G+ families, but a childhood diagnosis was still made in 8% of G- families, supporting the need for universal screening of first-degree childhood relatives with HCM irrespective of genotype status.

G. Norrish, E. Pascall, E. Field et al. · 1 citation

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