José María Millán

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

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

COQ8 chaperones coenzyme Q lipid intermediates through ATP-driven structural gating

This study identifies COQ8 as a chaperone that facilitates coenzyme Q biosynthesis by ATP-driven structural gating of intermediates.

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)

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

USH2A is a Meissner corpuscle end-organ protein necessary for vibration sensing in mice and humans

This study shows that USH2A is essential for vibration sensing in mice and humans by being expressed in Meissner corpuscle end-organs, not in sensory neurons.