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Quinten Mahieu

3PUBLICATIONS

101CO-AUTHORS

Sensory systemsGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)

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Publications (3)

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|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

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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

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

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