Kannan Vrindavan Manian

The paper presents a high-resolution map of RHO missense variants' trafficking and evaluates pharmacologic correction with YC-001, identifying pathogenic variants and therapeutic potential.

The paper develops and validates high-throughput assays to assess RPE65 variant expression levels, aiding in reclassifying variants of unknown significance as pathogenic.

The paper evaluates base editing efficiency for USH2A mutations using in vitro screening and a mouse model, showing high correction rates and comparing methods.

This study shows that TIMP3 mutations in RPE cells increase glycolytic activity and disrupt glutamine metabolism, linking these changes to Sorsbys Fundus Dystrophy.