Katie A. Lutz

Integrative Multiomics to Dissect the Lung Transcriptional Landscape of Pulmonary Arterial Hypertension

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.

Rare variant analysis of 4,241 pulmonary arterial hypertension cases from an international consortium implicate FBLN2, PDGFD and rare de novo variants in PAH

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.

Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension

Novel risk genes and mechanisms implicated by exome sequencing of 2,572 individuals with pulmonary arterial hypertension

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

Genetic determinants of risk and survival in pulmonary arterial hypertension

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