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J. Ware

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Open access Sep 2026

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 expert panel reconvened in 2024-2025 to conduc...

E. Jordan, Phoenix L. Grover, P. Parker et al. · 0 citations
Sep 2026

The molecular landscape of hypertrophic cardiomyopathy across disease stages and genotypes.

Unsupervised and supervised machine learning approaches distinguished HCM from dilated cardiomyopathy and accurately predicted genotype status in early-stage HCM from cell type-resolved transcriptional profiles, revealing widespread genotype-driven remodeling.

E. Adami, Yuri Kim, Sean L. Zheng et al. · 1 citation
Open access Jul 2026

Unmasking Supervillin: SVIL haploinsufficiency causes hypertrophic cardiomyopathy by impairing mechanotransduction and cellular energetics

SVIL-associated cardiomyopathy is established as a mechanistically distinct form of HCM and drugs targeting mitochondrial bioenergetics may be a therapeutic strategy in patients with SVIL-associated cardiomyopathy.

Yifan J. Li, Y. Psaras, V. Steeples et al. · 0 citations

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