Edwin G. Peña-Martínez

Global Evaluation of Congenital Heart Disease-Associated Non-Coding Variants

This study evaluates over 3,000 congenital heart disease-risk variants using SNP Bind-n-Seq and MPRA to identify variants with allelic TF binding and regulatory activity.

Congenital heart disease missense mutations in the TBX5 DNA-binding domain alter thermal stability and DNA-binding affinity

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

Cardiovascular Disease-Associated Non-Coding Variants Disrupt GATA4-DNA Binding and Regulatory Functions

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

Prioritizing Cardiovascular Disease-Associated Variants Altering NKX2-5 Binding through an Integrative Computational Approach

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.