Rizwan Hamid

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.

The paper identifies a hypomorphic SLC6A1 variant causing variable expressivity in neurodevelopmental disorders using clinical phenotyping and Drosophila models.

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.

This paper introduces DiGePred, a machine learning tool that identifies potential digenic disease gene pairs, achieving high precision and recall in evaluating rare genetic disorders.

AMELIE 3 automatically reanalyzes undiagnosed Mendelian disease patients using new literature, achieving 80% diagnostic yield with 0.5-1 alerts per patient per year.

The paper develops a method to detect diploid-triploid mixoploidy using whole genome sequencing data and validates it with clinical cytogenetic testing.