Lev Prasov

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 identifies a hypomorphic MYRF variant causing partial loss of function in the RPE, with two novel splicing variants linked to isolated nanophthalmos.

This study identifies Myrf as a critical regulator of RPE development, showing its role in melanogenesis, cell survival, and structure through gene regulation and signaling pathways.

The paper identifies NTE activity as a biomarker for retinopathy and endocrinopathy in PNPLA6 disorders, using clinical and preclinical data to establish a genotype-activity-phenotype relationship.