Ghent University Academic Bibliography

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- Conference Paper
- C3
- open access
In-depth phenotypic study of a Novel Autosomal Dominant RPE65-related Retinal Dystrophy

Filip Van Den Broeck (UGent) , Eline Van Vooren (UGent) , Manon Van Haute (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Mattias Van Heetvelde (UGent) , Quinten Mahieu (UGent) , Sheetal Uppal, Eugenia Poliakov, T. Michael Redmond, et al.

(2025) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. In Investigative Ophthalmology & Visual Science 66(8).
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- Journal Article
- A1
- open access
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

Eline Van Vooren (UGent) , Filip Van Den Broeck (UGent) , Quinten Mahieu (UGent) , Eline Geens (UGent) , Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Sheetal Uppal, Eugenia Poliakov, Claire-Marie Dhaenens, et al.

(2025) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 66(12).
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- Conference Paper
- C3
Discovery, replication and characterization of a novel dominantRPE65-related retinopathy due to founder variant p.(E519K) expanding the therapeutic potential

Eline Van Vooren (UGent) , Filip Van Den Broeck (UGent) , Quinten Mahieu (UGent) , Eline Geens (UGent) , Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Sheetal Uppal, Eugenia Poliakov, Claire-Marie Dhaenens, et al.

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.94-95
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- Miscellaneous
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

Eline Van Vooren (UGent) , Filip Van Den Broeck (UGent) , Quinten Mahieu (UGent) , Eline Geens (UGent) , Mattias Van Heetvelde (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Sheetal Uppal, Eugenia Poliakov, Claire-Marie Dhaenens, et al.

(2025) Research Square.
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- Conference Paper
- C3
A novel RPE65-related dominant retinopathy caused by founder variant c.1555G>A p.(Glu519Lys) enriched in Belgian patients with a recognizable pattern dystrophy spectrum

Eline Van Vooren (UGent) , Filip Van Den Broeck (UGent) , Eline Geens (UGent) , Marieke De Bruyne (UGent) , Stijn Van de Sompele (UGent) , Quinten Mahieu (UGent) , Sheetal Uppal, Eugenia Poliakov, Michael T. Redmond, Julie De Zaeytijd (UGent) , et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. 32(Suppl. 2). p.1332-1332

Academic Bibliography

In-depth phenotypic study of a Novel Autosomal Dominant RPE65-related Retinal Dystrophy

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

Discovery, replication and characterization of a novel dominantRPE65-related retinopathy due to founder variant p.(E519K) expanding the therapeutic potential

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

A novel RPE65-related dominant retinopathy caused by founder variant c.1555G>A p.(Glu519Lys) enriched in Belgian patients with a recognizable pattern dystrophy spectrum

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