Adelaide Tovar

The paper maps and redesigns the MYBPC3 promoter to enhance expression and treat haploinsufficient hypertrophic cardiomyopathy.

The paper uses MPRAs to assess context-dependent regulatory activity in type 2 diabetes-linked noncoding regions across different promoters and cell types.

The paper uses MPRA to assess context-dependent activity of transcription start sites, finding that promoter, position, and strand effects influence regulatory element function.

This study identifies context-specific regulatory effects of metabolic trait-associated variants in human skeletal muscle cells under different conditions.

The paper performs population-scale single-nucleus multi-omic profiling of skeletal muscle to identify genetic regulation across cell types and traits.

This study identifies a novel gene-by-environment QTL on mouse chromosome 15 associated with susceptibility to acute ozone-induced lung injury using the Collaborative Cross panel.

This study investigates the role of Zfp30 in neutrophil recruitment and fertility using a knockout mouse model, finding no effect on neutrophilic inflammation but a reduction in live mutant offspring.