Carlos Ruiz-Arenas

Characterization of snRNA-related neurodevelopmental disorders through the Spanish Undiagnosed Rare Disease Programs

The paper identifies de novo pathogenic variants in snRNA genes causing neurodevelopmental disorders in patients from the Spanish URD Programs.

Common genetic variants associated with urinary phthalate levels in children: a genome-wide study

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

NetActivity enhances transcriptional signals by combining gene expression into robust gene set activity scores through interpretable autoencoders

NetActivity improves gene set activity scores by using interpretable autoencoders, showing better consistency and biological relevance in prostate cancer analysis.

Identification of blood autosomal cis-expression quantitative trait methylation (cis-eQTMs) in children

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.

Genomic and phenomic insights from an atlas of genetic effects on DNA methylation

The paper identifies genetic variants influencing DNA methylation in blood and shows their associations with complex traits and diseases, but finds limited direct causality.

Historical recombination variability contributes to deciphering the genetic basis of phenotypic traits

The paper introduces recombClust, a method to detect historic recombination differences in populations, and applies it to identify recombination histories linked to phenotypic traits in humans.

Polymorphic inversions underlie the shared genetic susceptibility to prevalent common diseases

The paper identifies common polymorphic inversions associated with multiple common diseases and suggests their role in shared genetic susceptibility.