Clarissa Rocca

The paper investigates age-related X chromosome inactivation (XCI) erosion in human females using bulk and single-cell datasets, finding age-dependent escape from XCI in specific genes.

The paper investigates how sex-biased gene expression influences sex differences in gene essentiality using CRISPR screens and transcriptomic data.

This study uses bulk and single nuclear RNA-sequencing to analyze transcriptomic changes in repeat expansion ataxias, revealing distinct non-neuronal cell type-specific disease signatures across the human brain.

The paper estimates the frequency of repeat expansion mutations across populations using whole genome sequencing data and finds higher expected prevalence than current reports.

The paper investigates whether Ide copy number variants influence vascular phenotypes in mice and humans, finding no significant association.

This study identifies SLITRK3 mutations in humans linked to epileptic encephalopathy and shows their loss-of-function effect in neurons and mice, highlighting a role in synapse development and neurological function.

The paper identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability through a phenome-wide association study using DNA methylation profiling and UK Biobank data.