Harm Jan Bogaard

The paper uses a multi-omics framework to analyze PAH endothelial cells and identifies kinase-related alterations and potential drug targets.

This study shows that inhibiting BMP9 signaling reduces endothelial secretion of vasoactive factors that drive pulmonary vascular remodeling in pulmonary hypertension.

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.

This paper classifies PAH-related genes based on evidence strength using a semi-quantitative scoring system, identifying twelve genes with definitive evidence and recommending their inclusion in genetic testing panels.

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.

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

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

This study identifies novel rare genetic variants associated with heritable pulmonary arterial hypertension through whole genome sequencing of cases and controls.