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