Sarah Jenkinson

Inducible Impairment of Polymerase Gamma Activity in Cardiomyocytes Promotes Severe Cardiomyopathy with Cardiac Hepatopathy

This study shows that impairing polymerase gamma activity in cardiomyocytes leads to mtDNA instability, activates the integrated stress response, and causes severe cardiomyopathy with hepatopathy in mice.

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

This study identifies disease-causing promoter and untranslated region variants in 8,040 undiagnosed rare disease patients using a new framework and finds 12 variants with potential pathogenicity.