- Work address
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Stalen medische genetica C. Heymanslaan 10
9000 Gent - Frauke.Coppieters@UGent.be
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The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond
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CRISPR/Cas9 mediated knockout of rcbtb1 in Xenopus tropicalis to model RCBTB1-associated retinal disease
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CRISPR/Cas9 mediated knockout of rcbtb1 in Xenopus tropicalis to model RCBTB1-associated retinal disease.
(2018) -
- journalArticle
- open access
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
(2018) Genet. Med.. -
Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease
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Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells
(2018) -
Functional characterization of N-terminal TIMP3 mutation underlying Sorsby fundus dystrophy in Belgian and French pedigrees
(2018) -
Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes
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Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes
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Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes