Shrikant Mane

The paper identifies STARD9 as a causal gene for dyslipidemias and atherosclerosis, showing how its variants alter lysosomal positioning and cholesterol trafficking with opposing effects on HDL and triglycerides.

This study identifies new genes and shared genetic architecture between kidney anomalies and other developmental disorders using exome-wide analysis of clinical cohorts.

The paper identifies genetic mutations in 329 patients with suspected renal electrolyte disorders, finding known/likely disease-causing variants in 295 probands and highlighting non-coding variants and novel mitochondrial mutations.

This study identifies correlates of risk for disinhibited behaviors in veterans using polygenic scores and electronic health records, finding strong associations with substance use disorders and related health outcomes.

The paper identifies genetic variants in RASA1 and EPHB4 associated with vein of Galen malformations through exome analysis and single-cell transcriptomics.

The paper describes the role of the Centers for Mendelian Genomics in advancing gene discovery through data sharing, collaboration, and resource development over the past decade.

This paper shows that Cys1 gene mutations cause ARPKD by altering Myc expression, using mouse models and a human patient case.