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Researcher
Filip Van Den Broeck
- Keywords:Ophthalmic genetics, inherited blindness, inherited retinal disease
- Disciplines:Ophthalmology
Affiliations
- Department of Head and Skin (Department)
Member
From1 Oct 2020 → 21 Sep 2025
Publications
1 - 10 of 12
- Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy(2025)Published in: AMERICAN JOURNAL OF HUMAN GENETICSISSN: 1537-6605Issue: 4Volume: 112Pages: 808 - 828
- Generation of two iPSC lines (UGENTi003 and UGENTi004) from patients with intermediate rod-cone dystrophy carrying the c.[-123C>T;701G>A]; [806_810del] variants in the RDH12 gene(2025)Published in: STEM CELL RESEARCHISSN: 1876-7753Volume: 86
- A novel recurrent ARL3 variant c.209G>A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models(2025)Published in: HUMAN MOLECULAR GENETICSISSN: 1460-2083Issue: 9Volume: 34Pages: 821 - 834
- Generation and characterization of three human induced pluripotent stem cell lines (UGENTi005, UGENTi006 and UGENTi007) from patients with autosomal dominant adult-onset maculopathy due to RPE65 variant c.1555G>A, p.(E519K)(2025)Published in: STEM CELL RESEARCHISSN: 1876-7753Volume: 89
- Characterising the refractive error in paediatric patients with congenital stationary night blindness : a multicentre study(2025)Published in: BRITISH JOURNAL OF OPHTHALMOLOGYISSN: 1468-2079Issue: 2Volume: 109Pages: 286 - 292
- Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease(2024)Published in: GENOME MEDICINEISSN: 1756-994XIssue: 1Volume: 16
- Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy(2024)Published in: SCIENTIFIC REPORTSISSN: 2045-2322Issue: 1Volume: 14
- Evaluation of a novel antisense oligonucleotide therapy targeting a 5’UTR mutation in the RDH12 gene(2024)Volume: 65Number of pages: 1
- Paediatric cataract surgery with 27G vitrectomy instrumentation : the Ghent University Hospital experience(2023)Published in: FRONTIERS IN MEDICINEISSN: 2296-858XVolume: 10
- Optic nerve involvement in CACNA1F-related disease : observations from a multicentric case series(2023)Published in: OPHTHALMIC GENETICSISSN: 1744-5094Issue: 2Volume: 44Pages: 152 - 162