Open access
Sep 2026
Pathogenic variants in myoferlin (MYOF) cause arrhythmogenic cardiomyopathy
A. Kirillova, Metin Aytekin, Irene N. Chan et al.
· medRxiv · 0 citations
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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.
· bioRxiv · 0 citations
Open access
Jul 2026
Scaled Multidimensional Assays of Variant Effect Identify Sequence-Function Relationships in Hypertrophic Cardiomyopathy
This work provides a platform for extending genome engineering in induced pluripotent stem cells to multiplexed assays of variant effects across diverse disease-relevant cellular phenotypes, enhancing the understanding of variant pathogenicity and uncovering novel biological mechanisms that could inform therapeutic str...
Yuta Yamamoto, Kaiser Chua, David W. Staudt et al.
· Circulation · 0 citations