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

Science Advances · Jul 23, 2026Peer-reviewedGenomics

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

DaNae R. Woodard, Anil K. Chekuri, Kelsey Dang, Pooja Biswas, Swanand Koli, Justin Buchanan, Lin Lin, Sebastian Preißl, Allen Wang, Radha Ayyagari

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.

bioRxiv · Aug 2, 2025 · PreprintGenomics

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

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero, Erica G. M. Boonen, Mukhtar Ullah, Nick Zomer, Marc Folcher, Jacques Bijon, Lara K. Holtes, Stephen H. Tsang, Zelia Corradi, K. Bailey Freund, , Gaël Manès

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

medRxiv · Jan 6, 2025 · PreprintGenetic & Genomic Medicine

Human iPSC-derived retinal pigment epithelium: a model system for identifying and functionally characterizing causal variants at AMD risk loci

Erin N. Smith, Agnieszka D’Antonio‐Chronowska, William W. Young Greenwald, Victor Borja, Lana Ribeiro Aguiar, Robert Edward Pogue, Hiroko Matsui, Paola Benaglio, Shyamanga Borooah, Matteo D’Antonio, Radha Ayyagari, Kelly A. Frazer

The paper uses iPSC-derived retinal pigment epithelium to identify and functionally characterize causal variants at AMD risk loci, finding rs943080 as the probable causal variant at VEGFA.

Stem Cell Reports · May 9, 2019Peer-reviewedGenetics