Pooja Biswas

Single-cell analysis of the epigenome and 3D chromatin architecture in the human retina

The paper performs single-cell multiomics analysis of the human retina to identify regulatory elements and develop predictors for non-coding risk variants.

Multi-omic analysis of photoreceptor alterations during early-onset retinal degeneration in Mfrp-/- mice

This study uses multi-omic analysis to identify transcriptional and spatial changes in Mfrp-/- mice, revealing photoreceptor loss and gene regulatory disruptions during retinal degeneration.

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

The paper identifies de novo and inherited variants in U4 and U6 snRNAs causing retinitis pigmentosa and shows their impact on snRNP biogenesis.