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Frauke Coppieters

Ghent University Hospital
Ghent University

121

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1908

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Exploring the role of putative cis-regulatory variants within the 5’UTR of the ABCA4 gene in ~6,900 cases with inherited retinal disease

2021 Investigative Ophthalmology & Visual Science
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Selection and validation of reference genes for accurate RT-qPCR gene expression normalization in cacao beans during fermentation

2021 Tree Genetics & Genomes
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Functional characterization of a Xenopus tropicalis knockout and a human cellular model of RCBTB1-associated inherited retinal disease shows involvement of RCBTB1 in the cellular response to oxidative stress

2020 Investigative Ophthalmology & Visual Science
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Isolated Maculopathy and Moderate Rod-Cone Dystrophy Represent the Milder End of the RDH12-related Retinal Dystrophy Spectrum

2020 Retina-the Journal of Retinal and Vitreous Diseases
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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

2020 Human Mutation
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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)

2020
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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)

2020
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Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells

2019 Investigative Ophthalmology & Visual Science
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The development of a novel SNP genotyping assay to differentiate cacao clones

2019 Scientific Reports
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The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond

2019 Human Mutation
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