Alexander M. Loiben

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.