Jérôme E. Roger

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 study identifies GPATCH11 variants causing mis-splicing and early-onset retinal dystrophy with neurological impairment through patient analysis, fibroblast studies, and a mouse model.

This study shows Yap regulates DNA replication dynamics and interacts with Rif1 to control replication timing in early embryos and stem cells.

This study shows that Yap conditional knockout mice develop glaucoma features, including optic nerve degeneration and retinal ganglion cell death, highlighting YAP's role in preventing glaucoma.

This study shows that GSK3 signaling regulates the genesis of displaced ganglion cells in the retina, with loss of GSK3 leading to increased numbers of these cells and altered axon projections.

This study shows HDAC inhibition delays cone death in RP mice by protecting multiple survival pathways, even after most rods have degenerated.

This study investigates Yap haploinsufficiency in mice, revealing its role in Müller glia dysfunction and late-onset cone dystrophy in aged individuals.

This study shows that AMPK regulates retinal metabolism and that its loss leads to photoreceptor and RPE cell degeneration.

This study identifies YAP's role in Müller glia quiescence exit and regeneration by linking it to EGFR signaling and cell cycle re-entry in retinal injury.