Q. Mahieu

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

G. Arno, F. Van den Broeck, M. De Bruyne, 2023, medRxiv.

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

J. Tena, J. Gómez-Skarmeta, S. Naranjo, 2023, bioRxiv.

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

G. Arno, M. De Bruyne, F. Coppieters, 2024, Genome medicine.

Autozygome‐guided exome‐first study in a consanguineous cohort with early‐onset retinal disease uncovers an isolated RIMS2 phenotype and a retina‐enriched RIMS2 isoform

M. Van Heetvelde, M. Bauwens, B. Almoallem, 2024, Clinical genetics.