Elizabeth D. Hughes

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

This paper introduces a framework to model haploinsufficiency-mediated human disorders by modulating gene dosage through splicing, demonstrating its application in creating accurate animal models for cardiomyopathies.

The paper shows that PHF21A microexon expression precedes LSD1 microexon expression during neurodevelopment, leading to stepwise deactivation of the LSD1-PHF21A complex and unique gene-regulatory roles in neurons.

The paper generates and validates two novel Cre-expressing rat lines for studying striatal pathways.

The paper generates and validates two knock-in rat strains expressing Cre or Flp recombinase under the Parvalbumin promoter for studying inhibitory interneurons.