Quinten Mahieu
Gent, VLG, Belgium
Last Updated: 09/26/2026
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Found 8 publications
RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.
Journal: Investigative ophthalmology & visual science
Published: September 23, 2025
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
Journal: Nature genetics
Published: June 02, 2025
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.
Journal: Research square
Published: May 19, 2025
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.
Journal: NPJ genomic medicine
Published: October 01, 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.
Journal: Clinical genetics
Published: December 20, 2023
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
Journal: American journal of human genetics
Published: September 11, 2023
Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci.
Journal: Genome biology
Published: June 30, 2023
Showing 1-8 of 8
Last Updated: 09/26/2026