Eric D. Austin

Early Tracheal and Salivary miRNAs in Extremely Preterm Infants Predict BPD-related Pulmonary Hypertension

The paper identifies miRNAs in tracheal and salivary samples of preterm infants that predict BPD-related pulmonary hypertension with improved accuracy when combined with clinical variables.

A Large Animal Model of Heritable Pulmonary Arterial Hypertension UsingGene-edited BMPR2 Sheep

This paper develops a gene-edited ovine model of heritable pulmonary arterial hypertension to study BMPR2 mutations and their pathophysiology.

A chimeric human-mouse lung vascular model using induced pluripotent stem cells reveals insights into the pathogenesis of BMPR2-related pulmonary hypertension

The paper develops a chimeric human-mouse lung vascular model using hiPSCs to study BMPR2-related pulmonary hypertension, revealing novel molecular and functional defects in human endothelial cells.

Circular RNA profiling identifies circ5078 as a BMPR2-derived regulator of endothelial proliferation and stress responses

The paper identifies circ5078 as a BMPR2-derived circular RNA that regulates endothelial proliferation and stress responses in PAH, with opposing effects to linear BMPR2 mRNA.

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.

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.

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.