Michael W. Pauciulo

The paper identifies pulmonary primary oxysterol and bile acid synthesis as a prognostic biomarker for pulmonary arterial hypertension, outperforming current clinical risk scores.

The paper presents a genetic resource of 15,684 individuals of African ancestry, demonstrating its utility in replicating and discovering disease associations.

The paper identifies NCOA7's role in lysosomal function and inflammatory sterol metabolism in PAH, showing its deficiency exacerbates disease through oxysterol/bile acid generation.

The paper identifies rare FOXF1 missense variants in PAH patients, shows dysregulated FOXF1 expression in PAH lungs, and identifies downstream targets linked to PAH pathogenesis.

The paper identifies a gene co-expression module, the pink module, associated with PAH severity, genetic risk, vascular cell types, and therapeutic targets through multiomics integration.

This study identifies two new PAH risk genes, FBLN2 and PDGFD, through rare variant analysis of 4,241 PAH cases, with de novo variants contributing to ~15% of pediatric IPAH.

The paper identifies two new risk genes for idiopathic pulmonary arterial hypertension through exome sequencing of 2,572 individuals.

This study identifies common genetic variants associated with pulmonary arterial hypertension risk and survival, focusing on HLA-DPA1/DPB1 and a SOX17 enhancer locus.