Irina Balikova

Expanding the clinical spectrum and management of traboulsi syndrome : report on two siblings homozygous for a novel pathogenic variant in ASPH

Tom Van Hoorde (UGent) , Fanny Nerinckx (UGent) , Elke O. Kreps (UGent) , Dimitri Roels (UGent) , Philippe Huyghe, Mattias Van Heetvelde (UGent) , Hannah Verdin (UGent) , Elfride De Baere (UGent) , Irina Balikova (UGent) and Bart Leroy (UGent)

(2021) OPHTHALMIC GENETICS. 42(4). p.493-499

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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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Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease

Stijn Van de Sompele (UGent) , Thijs Van der Snickt, Eva D'haene (UGent) , Sarah Vergult (UGent) , Petra Liskova, Carlo Rivolta, Jenneke van den Ende, Arthur A. Bergen, Irina Balikova (UGent) , Julie De Zaeytijd (UGent) , et al.

(2020) Retina Meeting, Abstracts.

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Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease

Stijn Van de Sompele (UGent) , Thijs Van der Snickt, Eva D'haene (UGent) , Sarah Vergult (UGent) , Petra Liskova, Carlo Rivolta, Jenneke Van den Ende, Arthur A. Bergen, Irina Balikova (UGent) , Julie De Zaeytijd (UGent) , et al.

(2020) European Human Genetics Virtual Conference ESHG 2020.2, Abstracts.

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Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease

Stijn Van de Sompele (UGent) , Thijs Van der Snickt, Eva D'haene (UGent) , Sarah Vergult (UGent) , Petra Liskova, Carlo Rivolta, Jenneke van den Ende, Arthur Bergen, Irina Balikova (UGent) , Julie De Zaeytijd (UGent) , et al.

(2020) 20th annual Belgian Society for Human Genetics meeting, Abstracts.

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Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)

Hannah Verdin (UGent) , Toon Rosseel (UGent) , Sascha Vermeer, Irina Balikova (UGent) , Philippe Kestelyn (UGent) , Colombine Meunier, Françoise Meire (UGent) , Julie Van De Velde (UGent) , Olivier Vanakker (UGent) , Jenneke Van Den Ende, et al.

(2020) Belgian Society for Human Genetics, 20th Annual meeting, Abstracts.

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The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

Basamat Almoallem Mohammed (UGent) , Gavin Arno, Julie De Zaeytijd (UGent) , Hannah Verdin (UGent) , Irina Balikova (UGent) , Ingele Casteels, Thomy de Ravel, Sarah Hull, Martina Suzani, Anne Destrée, et al.

(2020) SCIENTIFIC REPORTS. 10(1).

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Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism

Elise Pozza, Hannah Verdin (UGent) , Hilde Deconinck, Annelies Dheedene (UGent) , Björn Menten (UGent) , Elfride De Baere (UGent) and Irina Balikova (UGent)

(2020) EUROPEAN JOURNAL OF MEDICAL GENETICS. 63(5).

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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 (UGent) , 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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Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

Artur V. Cideciyan, Samuel G. Jacobson, Arlene V. Drack, Allen C. Ho, Jason Charng, Alexandra V. Garafalo, Alejandro J. Roman, Alexander Sumaroka, Ian C. Han, Maria D. Hochstedler, et al.

(2019) NATURE MEDICINE. 25(2). p.225-228

Academic Bibliography

Irina Balikova

Expanding the clinical spectrum and management of traboulsi syndrome : report on two siblings homozygous for a novel pathogenic variant in ASPH

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

Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease

Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease

Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease

Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism

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

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

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