Fernando J. Martínez

This study identifies three novel genetic signals associated with idiopathic pulmonary fibrosis using GWAS and clinically-curated datasets, highlighting potential drug targets like MUC1 and NTN4.

This study performs GWAS of IPF using dominant and recessive models, identifying five new genome-wide significant signals and genes, including PMF1 and EPN3, and observing increased PMF1 expression in IPF patients.

This study identifies independent associations between IPF risk and rare variants, the MUC5B SNP, and polygenic scores, showing that telomere-associated common variants improve disease prediction and explain genetic heterogeneity in IPF.

This study investigates the impact of rare variants and polygenic risk scores on survival in idiopathic pulmonary fibrosis patients, finding that rare variants are associated with worse outcomes.

This study identifies three genetic variants with sex-specific effects on IPF susceptibility but finds no significant difference in predictive accuracy of polygenic risk scores between males and females.

This study investigates the association between HLA genetic variants and IPF risk using a meta-analysis of seven case-control studies, finding no consistent HLA region associations.

The paper finds that somatic mutations in diseased lung tissue correlate with reduced lung function and cell type proportions in COPD and IPF.

The paper identifies four novel genetic variants associated with IPF survival, including a PCSK6 variant, and suggests PCSK6 as a prognostic biomarker and therapeutic target.