José A. Rodríguez‐Martínez

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 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.

CREPE is a Shiny app for cataloguing and annotating transcription factors, benchmarked on human datasets and applied to Heliconius butterflies.

The paper characterizes structural variation in Heliconius butterfly genomes and links it to chromatin accessibility and cis-regulatory elements.