Joshua K. Meisner

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.

This study shows that DSP haploinsufficiency causes cell-cell adhesion failure in cardiomyopathy and that increasing DSP expression rescues this defect.