Elena V. Semina

The paper investigates R3HCC1L variants in a family with Peters anomaly and uses zebrafish models to assess its role in ocular development, finding no clear link to the phenotype.

The paper studies deletions in the upstream regulatory region of zebrafish pitx2 and their effects on ocular development and DNA methylation.

The paper identifies NOTUM/notum1 as a downstream target of PITX2 essential for eye and craniofacial development in zebrafish, showing defects in its absence.