Jennifer G. Aparicio

This study corrects a dominant BEST1 mutation in patient-derived RPE cells using base editing, showing improved cellular function and transcriptome normalization.

The paper identifies and characterizes early human photoreceptor states and cell-state-specific features related to retinoblastoma using single-cell RNA sequencing.

The paper describes the generation of a human cone photoreceptor reporter line using CRISPR/Cas9 and demonstrates its use for live imaging of cone maturation in retinal organoids.