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Author

E. Ashley

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Open access Aug 2026

Reclassification of Genetic Variants in Patients with Hypertrophic Cardiomyopathy from the Sarcomeric Human Cardiomyopathy Registry (SHaRe)

Background: Genetic testing is a Class I recommendation for patients with hypertrophic cardiomyopathy (HCM). As knowledge and frameworks continue to evolve, genetic variant classifications may change with new evidence over time. Classifications rely on evidence sought from publicly available case data, improved classif...

S. Hespe, G. Powell, L. Catto et al. · 0 citations
Open access Jul 2026

Damaging RBM20 E-rich domain variants are not rescued by gene replacement

The data indicate that pathogenic E-rich domain variants reduce RBM20 protein abundance, but that their mechanism is unlikely to be explained by haploinsufficiency alone.

Bai Fang, Kaiser Chua, Daniel Y. Li et al. · 0 citations

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