Ghent University Academic Bibliography

Your filters: cql: author="Balikova, Irina" or (type any "bookEditor issueEditor" and editor="Balikova, Irina")

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Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants

Miriam Bauwens (UGent) , Vincent De Man, Isabelle Audo, Irina Balikova, Wadih M. Zein, Vasily Smirnov, Sebastian Held, Sascha Vermeer, Elke Loos, Julie Jacob, et al.

(2025) CLINICAL GENETICS. 107(1). p.44-55
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Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

Anneke T. Vulto-van Silfhout, Ingrid M. Jazet, Suzanne Yzer, Jeroen Pas, Serwet Demirdas, Elisabeth F. C. Van Rossum, Alberta A. H. J. Thiadens, Ronald Van Beek, Lonneke Haer-Wigman, Daniela Q. C. M. Barge-Schaapveld, et al.

(2025) GENETICS IN MEDICINE. 27(10).
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Characterising the refractive error in paediatric patients with congenital stationary night blindness : a multicentre study

Austin D. Igelman, Elizabeth White, Alaa Tayyib, Lesley Everett, Ajoy Vincent, Elise Heon, Christina Zeitz, Michel Michaelides, Omar A. Mahroo, Mohamed Katta, et al.

(2025) BRITISH JOURNAL OF OPHTHALMOLOGY. 109(2). p.286-292
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- Conference Paper
- C3
A multi-omics approach increases the diagnostic yield 'beyond the exome' in unsolved patients with inherited eye diseases

Miriam Bauwens (UGent) , Marta del Pozo Valero (UGent) , Marieke De Bruyne (UGent) , Filip Van Den Broeck (UGent) , Quinten Mahieu (UGent) , Mattias Van Heetvelde (UGent) , Stijn Van de Sompele (UGent) , Alfredo Dueñas Rey, Audrey Meunier, Thomy de Ravel, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.838-838
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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, 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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- C3
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Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases

Marta del Pozo Valero (UGent) , Miriam Bauwens (UGent) , Marieke De Bruyne (UGent) , Filip Van Den Broeck (UGent) , Stephanie Dulst, Quinten Quinten, Audrey Meunier, Thomy de Ravel, Joke Ruys, Mattias Van Heetvelde (UGent) , et al.

(2023) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. In Investigative Ophthalmology & Visual Science 64(8).
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Whole genome sequencing sheds light on the dark matter of the genome in patients with inherited retinal diseases

Miriam Bauwens (UGent) , Marta del Pozo Valero (UGent) , Marieke De Bruyne (UGent) , Filip Van Den Broeck (UGent) , Stephanie Dulst, Quinten Mahieu (UGent) , Audrey Meunier, Thomy de Ravel de l'Argentière, Joke Ruys, Mattias Van Heetvelde (UGent) , et al.

(2023) Belgian Society for Human Genetics (BeSHG) Annual Meeting 2023 : To DNA and beyond, Abstracts.
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High myopia and vitreal veils in a patient with Poretti- Boltshauser syndrome due to a novel homozygous LAMA1 mutation

Nawid Faizi, Ingele Casteels, Bruno Termote, Paul Coucke (UGent) , Elfride De Baere (UGent) , Marieke De Bruyne (UGent) and Irina Balikova (UGent)

(2022) OPHTHALMIC GENETICS. 43(5). p.653-657
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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, Eva D'haene (UGent) , Fadi S. Shaya, Steven Agemy, Thijs Van der Snickt (UGent) , Alfredo Dueñas Rey, Toon Rosseel (UGent) , et al.

(2022) bioRxiv.
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Multi-omics approach dissects 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, Eva D'haene (UGent) , Fadi S. Shaya, Steven Agemy, Thijs Van der Snickt (UGent) , Alfredo Dueñas Rey, Toon Rosseel (UGent) , et al.

(2022) AMERICAN JOURNAL OF HUMAN GENETICS. 109(11). p.2029-2048

Academic Bibliography

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

Characterising the refractive error in paediatric patients with congenital stationary night blindness : a multicentre study

A multi-omics approach increases the diagnostic yield 'beyond the exome' in unsolved patients with inherited eye diseases

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

Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases

Whole genome sequencing sheds light on the dark matter of the genome in patients with inherited retinal diseases

High myopia and vitreal veils in a patient with Poretti- Boltshauser syndrome due to a novel homozygous LAMA1 mutation

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

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

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