Shahin Golestani

Whole Exome Sequencing Unveils Novel Pathogenic Variants in an Iranian Cohort with Retinal Dystrophies: Implications for Genetic Diagnosis and Counseling.

The findings have the potential to enhance genetic counseling and improve the classification of subtypes in RD, and demonstrate the utility of WES in the molecular diagnosis of retinal dystrophies, highlighting the importance of functional validation of newly identified variants.