Mariya Moosajee

The paper identifies cis-regulatory elements and transcription factors involved in optic fissure closure using chicken embryos, linking them to human coloboma genes.

This study generates a retinal organoid model of dominant RDH12-retinitis pigmentosa, showing impaired photoreceptor development and cone function.

This study identifies metabolic and neuroactivity imbalances in plasma from PAX6 haploinsufficient aniridia patients, highlighting systemic effects beyond ocular defects.

The paper generates a Netrin-1 fluorescent reporter chicken line to study molecular signatures during optic fissure closure and identifies new markers and pathways for developmental tissue fusion.

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.

This study shows that loss of REP1 in CHM animal models and patients causes choroidal melanogenesis defects, including reduced melanin and melanosomes, and suggests potential therapeutic strategies.

This study uses patient iPSC-derived models to test TRIDs for restoring PAX6 function in aniridia, identifying amlexanox as effective in increasing PAX6 levels and rescuing disease phenotypes.

The paper identifies 10 genes with conserved expression in the optic fissure across vertebrates and suggests EMX2, NID1, and EPHB3 as novel candidate genes for ocular coloboma.

The paper identifies transcription factor interplay in corneal epithelial fate determination and disease using multi-omics analyses of limbal stem cells and epidermal keratinocytes.

The paper evaluates CRISPR base editors for correcting a KCNJ13 mutation causing LCA16, finding high on-target efficiency but negligible channel function due to bystander edits and mRNA structural issues.

The paper shows that aged gliotic Müller glia in zebrafish retain regenerative potential and can be stimulated to repair damaged neurons despite age-related neurodegeneration.