Geòrgia Escaramís

This study identifies rare variants in VNN2 associated with improved stroke recovery using exome sequencing and structural analysis.

The paper identifies placental DNA methylation (DNAm) as a potential mediator of genetic risk for schizophrenia, bipolar disorder, and major depressive disorder using mQTL and GWAS data.

The paper identifies small RNAs in plasma extracellular vesicles as biomarkers for premanifest changes in Huntington's disease, showing their association with cognitive performance and longitudinal progression.

This study identifies genetic variants associated with urinary phthalate metabolite levels in children through GWAS and CNV analysis.

This study conducts a genome-wide association analysis of blood mercury levels in pregnant women and children, identifying suggestive genetic variants but lacking replication across populations.

This paper identifies 39,749 autosomal cis-eQTMs in children's blood using HELIX data, showing most are near genes and many have genetic variants associated with methylation and expression.

The paper introduces BATI, a Bayesian rare variant association test that outperforms existing methods in detecting rare variants associated with complex diseases, especially when genetic variation explains little phenotypic variance.

This paper identifies DNA methylation sites associated with aggression through a meta-analysis of epigenome-wide studies across different age groups and tissues.

This study identifies cell types associated with brain complex traits using GWAS and single-cell transcriptomics, revealing novel roles for oligodendrocytes in Parkinson's disease.

The paper estimates genetic correlations between eating disorder and substance-use-related phenotypes using GWAS data, finding both positive and negative associations.

This paper uses transcriptomic imputation to identify gene-tissue associations linked to Anorexia Nervosa risk, finding significant links in both brain and metabolic tissues.