Judit García‐González

This paper introduces GSR, a method to adjust for pathway overlap in GWAS gene set enrichment, improving the accuracy of identifying biologically relevant pathways.

The paper analyses gene expression of disease-associated genes across 46 tissues and 204 cell types to identify their expression patterns in relation to 11 diseases and cancers.

This study shows that rbfox1 loss of function in zebrafish disrupts stress-related gene expression and increases cortisol levels during development, leading to behavioral and physiological signs of allostatic overload in adulthood.

This study identifies pathway-level polygenicity in anorexia nervosa by constructing pathway-based polygenic risk scores and finding 497 associated pathways.

The paper introduces trumpet plots to visualize the relationship between allele frequency and effect size in genetic association studies, using UK Biobank data and providing an R package and Shiny app for analysis.

The paper shows that non-additive effects of schizophrenia risk genes are due to convergent downstream transcriptomic effects and sub-additive changes, suggesting functional redundancy as a mechanism for non-additivity.

This study investigates the behavioral effects of rbfox1 deficiency in zebrafish, finding multiple behavioral changes that resemble those in Rbfox1-deficient mice and psychiatric patients.

BridgePRS improves polygenic risk score accuracy in non-European populations by leveraging shared genetic effects across ancestries, outperforming existing methods in simulated and real data.

This study shows that schizophrenia risk genes have convergent and non-additive transcriptomic effects when perturbed together in human neurons, suggesting functional redundancy and complex interactions.

This study examines the behavioral effects of developmental JWH-018 exposure in zebrafish and finds no moderation by disc1 mutations in anxiety-like behaviors.

The paper examines how polygenic risk for psychiatric disorders and smoking behavior influence psychotic experiences in UK Biobank participants, finding independent and synergistic effects.

The paper identifies Slit3 as a genetic locus influencing nicotine preference in zebrafish and smoking behavior in humans through mutagenesis screens and SNP analysis.

This study investigates whether polygenic risk scores (PRS) can predict antidepressant response in MDD, finding no significant predictive effect.