Jason Comander

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.

The paper develops a high throughput splicing assay (HTSA) to assess the impact of variants of unknown significance on exon inclusion, identifying 47 variants that significantly reduce exon recognition.

The paper identifies copy-number variations (CNVs) as a significant contributor to unsolved inherited retinal degeneration (IRD) cases, increasing the genetic diagnostic rate through NGS-based CNV detection.

This study develops a high-throughput cell-based assay to functionally characterize pathogenic variants of unknown significance in rhodopsin, recategorizing 37 variants and validating results across assays.