Hilary J. Vernon

This study uses stem cell models to investigate tissue-specific pathologies in Barth Syndrome caused by TAFAZZIN deficiency, identifying mitophagy defects and potential therapeutic targets.

This study identifies allele-specific metabolic differences in HCM mouse models, linking lipid metabolism to early-stage cardiac dysfunction.

The paper describes three patients with AGAP1 deletion variants and uses a Drosophila model to identify endolysosomal trafficking defects and stress response abnormalities linked to neurodevelopmental disorders.

This paper introduces BayPR, a Bayesian method that assigns pathogenicity probabilities to genetic variants using population data, achieving high accuracy for Mendelian disorders.

The paper identifies mitochondrial respiratory chain complex I and quality control dysregulation in TAZ-deficient cells and shows partial remediation via cardiolipin modulation.