Rodrigo Young

This study identifies a pathogenic MYRF variant causing isolated nanophthalmos by showing it is cleavage deficient, mislocalized, and reduces transcriptional activity with SOX10.

The paper investigates stochastic developmental eye defects in zebrafish yap1 mutants, showing genetic and mechanical factors influence penetrance of retinal coloboma.

This study identifies six rare variants in NR6A1 in six families with oculo-vertebral-renal syndrome, demonstrating their pathogenicity through in silico, cellular, and zebrafish experiments.

This study identifies Cachd1 as a novel Wnt receptor-interacting protein essential for left-right neuronal asymmetry in zebrafish.

This study shows that the GINS complex is essential for DNA replication in rapidly dividing retinal and tectal progenitor cells in zebrafish, leading to apoptosis in these cells when GINS function is absent.

The paper identifies tcf7l2 splice variants that mediate repressor functions in eye formation by interacting with Tle co-repressors and phosphorylated residues.

The paper shows that Tcf7l1a is essential for eye field specification in zebrafish but not for eye development, as mutants develop normal eyes through compensatory mechanisms.