Sudeep Mehrotra

This study evaluates the pathogenicity of deep intronic variants in recessive retinal diseases using a high-throughput splicing assay, finding that 19.4% of variants activate cryptic exons.

This study identifies glucocorticoid-induced transcriptomic changes in human trabecular meshwork and Schlemm's canal cells using RNA-seq, finding genes associated with glaucoma and intraocular pressure.

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 investigates RNA profiles in extracellular vesicles from PRPF31 mutant hi-RPE cells, finding distinct RNA content that may serve as biomarkers for retinal degeneration.

The paper evaluates methods for detecting differential gene expression, differential transcript expression, and alternative splicing using internal synthetic controls in RNA-seq data.

The paper combines whole genome sequencing and retinal organoid transcriptome analysis to identify and validate a novel non-coding pathogenic variant in a family with an unresolved genetic diagnosis.

The paper identifies non-coding mutations as a significant cause of RPGRIP1-mediated inherited retinal degeneration in patients with single coding mutations.

The paper generates patient-specific retinal organoids and RPE from RP type 11 patients to show PRPF31 mutations cause retinal-specific splicing defects and structural/functional impairments, which are corrected by in situ gene editing.