Diego A. Pomales-Matos

This paper investigates how TBX5 missense mutations affect thermal stability and DNA-binding affinity, providing insights into their role in congenital heart disease.

The paper predicts the regulatory effects of non-coding variants across brain and heart cellular contexts using deep learning, identifying rare variants with significant developmental impacts.

The paper identifies CVD-associated SNPs that alter GATA4-DNA binding and transcriptional activity using computational and experimental methods.

This paper prioritizes cardiovascular disease-associated variants altering NKX2-5 binding using a computational approach combining eQTL analysis and SVM-based TF binding site classification.