Open access
Jul 2026
Damaging RBM20 E-rich domain variants are not rescued by gene replacement
Fang Bai, Kaiser Chua, Daniel Y. Li et al.
· bioRxiv · 0 citations
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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 strategies.
Yuta Yamamoto, Kaiser Chua, David W. Staudt et al.
· Circulation · 0 citations