Author

A. Baker

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Open access Sep 2026

MAP3K7 Loss of Function Causes Dilated Cardiomyopathy

It is demonstrated that MAP3K7 variants can cause apparently isolated DCM, expanding the phenotypic spectrum of MAP3K7-related disorders, and establishing an association between MAP3K7 loss of function variants and DCM.

K. Josephs, C. Smith-Díaz, A. Woods et al. · medRxiv · 0 citations

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. · medRxiv · 0 citations