Yong Huang

The paper investigates E-rich domain variants of RBM20, showing they reduce protein abundance and cause splicing defects, but are not rescued by RBM20 overexpression.

The paper develops a multidimensional assay to assess variant effects in MYBPC3, reclassifying variants and uncovering disease mechanisms in hypertrophic cardiomyopathy.

The paper integrates multi-omic data to identify genetic and microbiome factors associated with severe COVID-19, independent of ancestry and social factors.

This paper demonstrates that allele-specific RNAi therapy reduces disease-causing mutations in a mouse model of restrictive cardiomyopathy, improving cardiac function and reducing pathological markers.