Ghent University Academic Bibliography

Journal Article
A1
open access

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David Birch, Pierre Bitoun, et al.

(2022) HUMAN MUTATION. 43(7). p.832-858

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Journal Article
A1
open access

Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutières syndrome with severe end-organ involvement

Leslie Naesens (UGent) , Josephine Nemegeer (UGent) , Filip Roelens, Lore Vallaeys, Marije Meuwissen, Katrien Janssens, Patrick Verloo (UGent) , Benson Ogunjimi, Dimitri Hemelsoet (UGent) , Levi Hoste (UGent) , et al.

(2022) JOURNAL OF CLINICAL IMMUNOLOGY.

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Journal Article
A1
open access

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 (UGent) , Magda A. Meester-Smoor, Alberta A. Thiadens, Roselie M. Diederen, et al.

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

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Conference Paper

Mapping the 3D genome of the human retina and its role in retinal disease

Eva D'haene (UGent) , Victor Lopez Soriano (UGent) , Lies Vantomme (UGent) , Bernd Wissinger, Susanne Kohl, Sarah Vergult (UGent) and Elfride De Baere (UGent)

(2022)

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Conference Paper

Mapping the 3D genome of the human retina and its role in retinal disease

Eva D'haene (UGent) , Victor Lopez Soriano (UGent) , Lies Vantomme (UGent) , Bernd Wissinger, Susanne Kohl, Sarah Vergult (UGent) and Elfride De Baere (UGent)

(2022)

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Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss

Giulia Ascari (UGent) , Nanna D. Rendtorff, Marieke De Bruyne (UGent) , Julie De Zaeytijd (UGent) , Michel Van Lint, Mattias Van Heetvelde (UGent) , Gavin Arno, Julie Jacob, David Creytens (UGent) , Jo Van Dorpe (UGent) , et al.

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.45-45

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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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Personalized genetic counseling for Stargardt disease : offspring risk estimates based on variant severity

Stephanie Cornelis, Esmee H. Runhart, Miriam Bauwens (UGent) , Zelia Corradi, Elfride De Baere (UGent) , Susanne Roosing, Lonneke Haer-Wigman, Claire-Marie Dhaenens, Anneke T. Vulto-van Silfhout and Frans P.M. Cremers

(2022) AMERICAN JOURNAL OF HUMAN GENETICS. 109(3). p.498-507

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Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C > A p.(Pro188Thr) in the C1QTNF5 gene

Julie De Zaeytijd (UGent) , Frauke Coppieters (UGent) , Marieke De Bruyne (UGent) , Jasper Van Royen, Dimitri Roels (UGent) , Rani Six, Caroline Van Cauwenbergh (UGent) , Elfride De Baere (UGent) and Bart Leroy (UGent)

(2021) OPHTHALMIC GENETICS. 42(5). p.521-532

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Journal Article
A1
open access

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

Giulia Ascari (UGent) , Nanna D. Rendtorff, Marieke De Bruyne (UGent) , Julie De Zaeytijd (UGent) , Michel Van Lint, Miriam Bauwens (UGent) , Mattias Van Heetvelde (UGent) , Gavin Arno, Julie Jacob, David Creytens (UGent) , et al.

(2021) FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY. 9.

Academic Bibliography

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutières syndrome with severe end-organ involvement

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

Mapping the 3D genome of the human retina and its role in retinal disease

Mapping the 3D genome of the human retina and its role in retinal disease

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss

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

Personalized genetic counseling for Stargardt disease : offspring risk estimates based on variant severity

Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C > A p.(Pro188Thr) in the C1QTNF5 gene

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

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