Stefan Gräf

This study identifies genetic determinants of endothelial cell molecular traits and their overlap with disease GWAS loci, revealing shared and unique mechanisms in non-communicable diseases.

The paper develops adapted ACMG/AMP guidelines for classifying BMPR2 variants in PAH, resolving 66% of uncertain variants as benign or likely benign.

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.

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