Lidia Fernández‐Caballero

The paper identifies biallelic DDX41 variants in LCA/EOSRD patients and shows they disrupt retinal homeostasis through loss-of-function mechanisms in mouse models.

This paper develops an allele-specific ASO strategy, SNARE, that selectively suppresses mutant RHO transcripts in RHO-linked retinitis pigmentosa, demonstrating functional rescue and retinal preservation in both in vitro and in vivo models.

This study uses genomic data from 11,084 patients to build a variant database and identify disease-associated signals, leading to molecular diagnoses in 32 unsolved rare disease cases.

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

RetiGene provides a curated gene atlas for inherited retinal diseases, integrating variant data and RNA sequencing to support gene prioritization and therapeutic development.

The paper identifies de novo and inherited variants in U4 and U6 snRNAs causing retinitis pigmentosa and shows their impact on snRNP biogenesis.

The paper develops GLOWgenes, a disease-aware network-based algorithm to prioritize new candidate genes for rare genetic diseases by evaluating heterogeneous molecular networks.

This study replicates previous findings on the association between androgen receptor polyQ alleles and COVID-19 severity in men, finding no significant association.