Harry C. Dietz

Accurate assignment of disease liability to genetic variants using only population data

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

Epigenetic modulation in the pathogenesis and treatment of inherited aortic aneurysm conditions

This study shows that epigenetic modulation, specifically targeting H3K27 acetylation, can reduce aortic root aneurysm in SGS and MFS mouse models by inhibiting TGFβ target gene expression.

Targetable cellular signaling events drive arterial rupture in knock-in mouse models of vascular Ehlers-Danlos Syndrome

The paper identifies signaling pathway abnormalities in vEDS mouse models that contribute to arterial rupture.

A positively selected, common, missense variant in FBN1 confers a 2.2 centimeter reduction of height in the Peruvian population

A common missense variant in FBN1 reduces height by 2.2 cm in Peruvians, showing strong positive selection and higher frequency in coastal Native American populations.