SOPHIE WALRAEDT

Journal Article
A1
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Paediatric cataract surgery with 27G vitrectomy instrumentation : the Ghent University Hospital experience

Hwei Wuen Chan, Filip Van Den Broeck (UGent) , Axelle Cools (UGent) , SOPHIE WALRAEDT (UGent) , Inge Joniau (UGent) , Hannah Verdin (UGent) , Irina Balikova (UGent) , Stefaan Van Nuffel, Patricia Delbeke, Elfride De Baere (UGent) , et al.

(2023) FRONTIERS IN MEDICINE. 10.

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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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A1
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X-linked Retinoschisis : novel clinical observations and genetic spectrum in 340 patients

Leo C. Hahn, Mary J. van Schooneveld, Nieneke L. Wesseling, Ralph J. Florijn, Jacoline B. ten Brink, Birgit I. Lissenberg-Witte, Ine Strubbe, Magda A. Meester-Smoor, Alberta A. Thiadens, Roselie M. Diederen, et al.

(2022) OPHTHALMOLOGY. 129(2). p.191-202

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A1
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Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility

Giulia Ascari (UGent) , Frank Peelman (UGent) , Pietro Farinelli, Toon Rosseel (UGent) , Nina Lambrechts, Kirsten A. Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova (UGent) , et al.

(2020) HUMAN MUTATION. 41(5). p.998-1011

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Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss

Giulia Ascari (UGent) , Frank Peelman (UGent) , Pietro Farinelli, Toon Rosseel (UGent) , Nina Lambrechts, Irina Balikova (UGent) , Lara Derycke (UGent) , Gabriële Holtappels (UGent) , Olga Krysko (UGent) , Thalia Van Laethem (UGent) , et al.

(2019)

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Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss

Giulia Ascari (UGent) , Frank Peelman (UGent) , Nina Lambrechts, Thalia Van Laethem (UGent) , Toon Rosseel (UGent) , Pietro Farinelli, David Creytens (UGent) , Irina Balikova (UGent) , Jan Gerris, Claus Bachert (UGent) , et al.

(2019) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 60(9).

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Hypotonia and delayed motor development as an early presentation of Lowe syndrome : case report and literature review

Sara David, Kathleen De Waele (UGent) , Bram De Wilde (UGent) , Franny Faes (UGent) , Olivier Vanakker (UGent) , SOPHIE WALRAEDT (UGent) and Agnieszka Prytula-Ebels (UGent)

(2019) ACTA CLINICA BELGICA. 74(6). p.460-464

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A1
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Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in Belgian families

Caroline Van Cauwenbergh (UGent) , Frauke Coppieters (UGent) , Dimitri Roels (UGent) , Sarah De Jaegere (UGent) , Helena Flipts (UGent) , Julie De Zaeytijd (UGent) , SOPHIE WALRAEDT (UGent) , Charlotte Claes, Erik Fransen, Guy Van Camp, et al.

(2017) PLOS ONE. 12(1).

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Diplopia as presenting sign of Turcot syndrome

Virginie Ninclaus (UGent) , SOPHIE WALRAEDT (UGent) , Edward Baert (UGent) , Genevieve Laureys (UGent) , Bart Leroy (UGent) and Julie De Zaeytijd (UGent)

(2017) INTERNATIONAL OPHTHALMOLOGY. 37(1). p.275-278

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Detailed clinical phenotyping of oxalate maculopathy in primary hyperoxaluria type 1 and review of the literature

Thierry Derveaux (UGent) , Patricia Delbeke, SOPHIE WALRAEDT (UGent) , Ann Raes (UGent) , Steven Van Laecke (UGent) , Bart Leroy (UGent) and Julie De Zaeytijd (UGent)

(2016) RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES. 36(11). p.2227-2235

Academic Bibliography

SOPHIE WALRAEDT

Paediatric cataract surgery with 27G vitrectomy instrumentation : the Ghent University Hospital experience

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

X-linked Retinoschisis : novel clinical observations and genetic spectrum in 340 patients

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility

Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss

Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss

Hypotonia and delayed motor development as an early presentation of Lowe syndrome : case report and literature review

Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in Belgian families

Diplopia as presenting sign of Turcot syndrome

Detailed clinical phenotyping of oxalate maculopathy in primary hyperoxaluria type 1 and review of the literature

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