Gabriel Maldonado-Velez

This study shows that loss of Tbx4 in embryonic lung mesenchyme leads to postnatal lung developmental defects and increased pulmonary hypertension.

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

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.