This study maps the proximity interactome of NR2E3 and its G56R variant using TurboID, revealing interactions with retinal development complexes and identifying BCOR as enriched in the mutant network.

bioRxiv · Sep 4, 2025 · PreprintSystems Biology

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

Alfredo Dueñas Rey, Marta Del Pozo‐Valero, Manon Bouckaert, K Wood, Filip Van den Broeck, Malena Daich Varela, Huw B. Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana J. Josifova, Carlo Rivolta, , Frauke Coppieters

The paper identifies 11 likely pathogenic 5'UTR variants in IRD genes using a prioritization strategy and functional validation.

Genome Medicine · Jan 6, 2024Peer-reviewedGenetic & Genomic Medicine

Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci

Eva D’haene, Víctor López-Soriano, Pedro Manuel Martínez‐García, Soraya Kalayanamontri, Alfredo Dueñas Rey, Ana Sousa‐Ortega, Silvia Naranjo, Stijn Van de Sompele, Lies Vantomme, Quinten Mahieu, Sarah Vergult, Ana Bastos Neto, José Luis Gómez-Skármeta, Juan Ramón Martínez‐Morales, Miriam Bauwens, , Elfride B. W. De Baere

The paper compares 3D genome structures between neural retina and RPE to identify tissue-specific cis-regulatory interactions at retinal disease loci.

bioRxiv · Jun 20, 2023 · PreprintGenomics