Julia Kornienko

The paper develops a deep mutational scanning framework to map variants to molecular functions in RBM20, identifying functional hotspots and therapeutic strategies for dilated cardiomyopathy.

This study identifies CAMK2D overactivation as the cause of heart failure in RBM20 cardiomyopathy and shows pharmacological inhibition can reverse cardiac dysfunction.

This study uses base editors and AAVMYO to correct Rbm20 mutations in cardiomyocytes, improving splicing and cardiac function in mouse models of dilated cardiomyopathy.

This study identifies population-specific protein-truncating variants and introduces LoFfeR, a tool that improves the annotation of low-confidence loss-of-function alleles by filtering more variants with the same false positive rate.