Quinten Mahieu
3PUBLICATIONS
101CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (3)
Sort by Publication Date:
|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova
|May 19, 2025
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.Eline Van Vooren, Filip Van den Broeck, Quinten Mahieu
|Mar 12, 2024
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.Marta Del Pozo-Valero, Basamat Almoallem, Alfredo Dueñas Rey
Pageof 1
Frequent Collaborators
2 joint publications
Alberta A H J Thiadens
2 joint publications
Mattias Van Heetvelde
2 joint publications
Miriam Bauwens
2 joint publications
Elfride De Baere
2 joint publications
Bart P Leroy
2 joint publications
Marieke De Bruyne
2 joint publications
Susanne Kohl
2 joint publications
Lies Hoefsloot
1 joint publications
Basamat Almoallem
1 joint publications
Alfredo Dueñas Rey
