Beatriz Guillén‐Guío

This study expands CIRdb with whole-exome sequencing data from 920 Canary Islanders, identifying 387,555 variants, including 15.1% previously unreported and 74.4% rare.

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 evaluates the genetic risk variants for idiopathic pulmonary fibrosis in non-European populations, finding partial replication and ancestry-specific effects, with rs35705950 as the most consistent signal.

This study shows that polygenic risk scores improve the identification of IPF patients carrying rare variants associated with monogenic pulmonary fibrosis.

The paper identifies rare genetic variants associated with sepsis-associated ARDS using whole-exome sequencing and network-based clustering analysis.

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.

The paper identifies risk loci for acute respiratory distress syndrome (ARDS) by analyzing protein quantitative trait loci (pQTLs) from GWAS of sepsis-related biomarkers.

This study identifies a genetic association between thromboembolism risk and long COVID in individuals of European ancestry, suggesting thromboembolism as a potential contributor to long COVID pathogenesis.

This study identifies a genome-wide significant variant associated with sepsis-associated ARDS risk, linking cholesterol metabolism to ARDS susceptibility.

This study performs a genome-wide association study for Long COVID, identifying a significant association with the FOXP4 locus and highlighting the role of pulmonary dysfunction and COVID-19 severity.

This study identifies pQTLs of sVEGFR1 levels during sepsis and links them to ARDS susceptibility and mortality using GWAS, colocalisation, and Mendelian randomisation.

This study calculates polygenic risk scores for idiopathic pulmonary fibrosis (IPF) and finds they are associated with increased risk of severe COVID-19 outcomes, particularly in younger males.

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.

This study identifies alternative splicing in lung genes as a factor influencing COVID-19 severity and respiratory diseases using Mendelian randomization.

The paper identifies shared and opposing genetic risk factors between IPF and hypertension, suggesting potential fibrotic mechanisms and therapeutic considerations.

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.

This paper conducts a genome-wide association study (GWAS) to identify genetic variants associated with 28-day survival in sepsis patients, finding three novel variants linked to reduced survival.

This study performs a large multi-ancestry meta-analysis of IPF genetics, identifying seven novel genome-wide significant loci and highlighting pleiotropy with severe COVID-19 and sex-heterogeneity at the MUC5B locus.

This study performs a genome-wide meta-analysis across five IPF cohorts, identifying five novel genetic loci associated with idiopathic pulmonary fibrosis.

This study identifies four genetic loci, including one novel, with shared causal variants between severe COVID-19 and idiopathic pulmonary fibrosis (IPF), revealing both shared and distinct biological processes.

This study identifies three new genetic loci associated with idiopathic pulmonary fibrosis and confirms 11 previously reported ones, highlighting mTOR signaling and mitotic spindle-assembly genes in disease susceptibility.