Ariel Feiglin

This study identifies aberrant splicing caused by the NR2E3 c.932G>A mutation and shows that splice-shifting ASOs can restore full-length protein function.

CoBRA provides a reproducible pipeline for ChIP/ATAC-seq analysis, including peak calling, clustering, and pathway analysis, with code available at the given URL.

The paper identifies sex-specific differences in immune-related pathways, particularly complement-dependent microglial synaptic pruning, during brain development and suggests their role in sex differences in neurological disorder vulnerability.