Juan J. Fernandez-Tajes

This study shows that germline MUTYH haploinsufficiency increases mutational signature SBS18 and CRC risk, but not other cancers, due to oxidative DNA damage in the colorectum.

The paper identifies shared genetic regulation across mRNA, proteins, and metabolites in blood, revealing networks and mediators of GWAS variants.

The paper analyzes gene expression in normal colorectal mucosa to assess associations with BMI and sex, finding no significant associations after replication.

The paper develops a framework to determine tissue-of-action for type 2 diabetes GWAS signals by integrating gene expression and epigenomic data, revealing key tissues and enhancing functional interpretation.

This study develops a polygenic and phenotypic risk score for PCOS using EHR data, showing improved detection and identifying shared metabolic and endocrine comorbidities.

This study identifies genetic effects on birth weight and their impact on cardio-metabolic traits, distinguishing fetal and maternal contributions.

The paper integrates genetic, genomic, and functional data to identify convergent biological pathways in type 2 diabetes, revealing enriched functional connectivity among causal genes.

This study performs a large-scale genome-wide meta-analysis of PCOS cases and identifies genetic loci associated with PCOS and related traits, showing shared genetic architecture across different diagnostic criteria.