Pierre David

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

The paper shows that reducing MHC class I epitope trimming in NOD mice delays diabetes by altering T cell responses and epitope presentation.

The paper identifies a regulatory variant driving microphthalmia by analyzing its effects in mouse models and linking it to FOXE3 expression and ocular development.

The paper models a critical MCOR-causing deletion in mice, revealing aberrant Sox21 expression and implicating Tgfb2 in MCOR-associated glaucoma and myopia.

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 identifies MINPP1 mutations as a cause of Pontocerebellar Hypoplasia, showing that MINPP1 deficiency leads to IP6 accumulation and cation chelation, disrupting brain development.