Kai‐Chun Yang

The paper introduces VIS-seq, an image-based method to assess variant effects on cellular phenotypes, revealing multidimensional variant impacts across different diseases.

The paper develops iPSC-SGE to assess variant effects in diverse genetic and cell contexts, identifying pathogenic variants and essential disease genes.

This study uses hiPSC-derived cardiomyocytes to assess MYH7 variants' effects, showing pathogenic variants reduce protein abundance and cell survival.

CRaTER enriches for on-target gene-edited cells in hiPSCs, enabling efficient generation of variant libraries for studying cardiomyopathy-associated mutations.

This study shows that MYH7 E848G mutation causes cardiomyocyte apoptosis and contractile dysfunction in a stem cell model of HCM, independent of p53.