Ghent University Academic Bibliography

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- Miscellaneous
Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Stijn Van de Sompele (UGent) , Kent W. Small, Münevver Burcu Cicekdal (UGent) , Victor Lopez Soriano (UGent) , Eva D'haene (UGent) , Fadi S. Shaya, Steven Agemy, Thijs Van der Snickt (UGent) , Alfredo Dueñas Rey (UGent) , Toon Rosseel (UGent) , et al.

(2022) bioRxiv.
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- Journal Article
- A2
- open access
The natural history of leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene

Leo C. Hahn, Michalis Georgiou, Hind Almushattat, Mary J. van Schooneveld, Emanuel R. de Carvalho, Nieneke L. Wesseling, Jacoline B. ten Brink, Ralph J. Florijn, Birgit I. Lissenberg-Witte, Ine Strubbe, et al.

(2022) OPHTHALMOLOGY RETINA. 6(8). p.711-722
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- Journal Article
- A1
- open access
The phenotypic spectrum of patients with PHARC syndrome due to variants in ABHD12 : an ophthalmic perspective

Xuan-Thanh-An Nguyen, Hind Almushattat, Ine Strubbe, Michalis Georgiou, Catherina H. Z. Li, Mary J. van Schooneveld, Inge Joniau (UGent) , Elfride De Baere (UGent) , Ralph J. Florijn, Arthur A. Bergen, et al.

(2021) GENES. 12(9).
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- Journal Article
- A1
- open access
Clinical characteristics and natural history of rho-associated retinitis pigmentosa : a long-term follow-up study

Xuan-Thanh-An Nguyen, Mays Talib, Caroline Van Cauwenbergh (UGent) , Mary J. van Schooneveld, Marta Fiocco, Jan Wijnholds, Jacoline B. ten Brink, Ralph J. Florijn, Nicoline E. Schalij-Delfos, Gislin Dagnelie, et al.

(2021) RETINA -THE JOURNAL OF RETINAL AND VITREOUS DISEASES. 41(1). p.213-223
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- Journal Article
- A1
- open access
Long-term follow-up of retinal degenerations associated with LRAT mutations and their comparability to phenotypes associated with RPE65 mutations

Mays Talib, Mary J. van Schooneveld, Roos J. G. van Duuren, Caroline Van Cauwenbergh (UGent) , Jacoline B. ten Brink, Elfride De Baere (UGent) , Ralph J. Florijn, Nicoline E. Schalij-Delfos, Bart Leroy (UGent) , Arthur A. Bergen, et al.

(2019) TRANSLATIONAL VISION SCIENCE & TECHNOLOGY. 8(4).

Academic Bibliography

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

The natural history of leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene

The phenotypic spectrum of patients with PHARC syndrome due to variants in ABHD12 : an ophthalmic perspective

Clinical characteristics and natural history of rho-associated retinitis pigmentosa : a long-term follow-up study

Long-term follow-up of retinal degenerations associated with LRAT mutations and their comparability to phenotypes associated with RPE65 mutations

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