David Montani

Defining the Clinical Validity of Genes Reported to Cause Pulmonary Arterial Hypertension

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.

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

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.

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

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

Telomerecat: A Ploidy-Agnostic Method For Estimating Telomere Length From Whole Genome Sequencing Data

Telomerecat estimates telomere length from whole-genome sequencing data without requiring prior knowledge of ploidy, showing good performance and detecting expected patterns in various data types.