prof. dr. Frauke Coppieters
- ORCID iD
- 0000-0001-7224-0992
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- Journal Article
- open access
Multi-omics analysis in human retina uncovers ultraconserved <i>cis</i>-regulatory elements at rare eye disease loci
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- Journal Article
- A1
- open access
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease
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A systematic approach to characterize the contribution of 5'UTR variation to inherited retinal disease
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- Journal Article
- A1
- open access
Differential protease content of mast cells and the processing of IL-33 in Alternaria alternata induced allergic airway inflammation in mice
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- Journal Article
- A1
- open access
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
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Performance Evaluation of Three DNA Sample Tracking Tools in a Whole Exome Sequencing Workflow
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- Journal Article
- A1
- open access
DC vaccines loaded with glioma cells killed by photodynamic therapy induce Th17 anti-tumor immunity and provide a four-gene signature for glioma prognosis
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Joubert syndrome
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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
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- Conference Paper
- C3
- open access
Cell death stage dictates the immunogenicity of ferroptotic cancer cells
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Selection and validation of reference genes for accurate RT-qPCR gene expression normalization in cacao beans during fermentation
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Isolated maculopathy and moderate rod-cone dystrophy represent the milder end of the RDH12-related retinal dystrophy spectrum
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- Journal Article
- A1
- open access
Vaccination with early ferroptotic cancer cells induces efficient antitumor immunity
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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)
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- Journal Article
- A1
- open access
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility
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- Journal Article
- A1
- open access
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy
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Analysis of whole exome sequencing data with a panel of genes associated with intellectual disability and epilepsy in a diagnostic lab
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PCR based target enrichment for variant confirmation, gene panels and multiplex PCR sample tracking in a whole exome sequencing workflow
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Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss
(2019) -
- Journal Article
- A1
- open access
The development of a novel SNP genotyping assay to differentiate cacao clones
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Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss
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Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells
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- Journal Article
- A1
- open access
Antisense oligonucleotide-based downregulation of the G56R pathogenic variant causing NR2E3-associated autosomal dominant retinitis pigmentosa
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- Journal Article
- A1
- open access
The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond
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- Journal Article
- A1
- open access
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
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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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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
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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
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Functional characterization of N-terminal TIMP3 mutation underlying Sorsby fundus dystrophy in Belgian and French pedigrees
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- Journal Article
- A1
- open access
Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290
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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
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When one rare disease hides another : Kartagener syndrome masking FMF
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- Journal Article
- A1
- open access
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
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Early-onset common variable immunodeficiency as a cardinal manifestation challenges the diagnosis of Wiedemann-Steiner and Roifman syndromes
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Missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertility.
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Missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertility
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- Journal Article
- A1
- open access
High-throughput PCR assay design for targeted resequencing using primerXL
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Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
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Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
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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
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- Journal Article
- A1
- open access
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
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- Journal Article
- A1
- open access
arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs
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Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene
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Second hit landscape in BRCA-associated breast cancer
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Molecular characterization of Theobroma cacao L. clones from Vietnam
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A next-generation sequencing approach targeting the highly repetitive ORF15 region of RPGR improves molecular diagnostics of X-linked retinitis pigmentosa
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- Journal Article
- A1
- open access
Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in Belgian families
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Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene
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- Journal Article
- A1
- open access
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development
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When two rare diseases coincide : Kartagener Syndrome and Familial Mediterranean Fever
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Thorough second hit analysis in BRCA1/2 associated breast cancer
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Thorough second-hit analysis in BRCA1/2-associated breast cancer
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Identification and characterization of RCBTB1 as new disease gene for isolated and syndromic retinal dystrophy
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Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, implicated in ubiquitination.
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Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1 and possible implication in the ubiquitination pathway
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Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : N-terminal TIMP3 mutation 15 years later
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Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : functional characterization of N-terminal TIMP3 mutation
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Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : N-terminal TIMP3 mutation 15 years later
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Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
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Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
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JAK2 deficiency as a novel cause of impaired Th17 immunity
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- Journal Article
- A2
- open access
Targeted resequencing and variant validation using pxlence PCR assays
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- Journal Article
- A1
- open access
Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination
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Exploring the role of non-coding variation in hereditary blindness : Stargardt disease as a model
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Exploring the role of non-coding variation in hereditary blindness : Stargardt disease as a model
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An augmented ABCA4 screen targeting non-coding regions reveals a deep intronic founder causal variant in Belgian Stargardt patients
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An augmented ABCA4 screen targeting non-coding regions reveals a deep intronic founder causal variant in Belgian Stargardt patients
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An augmented ABCA4 screen targeting non-coding regions reveals a deep intronic founder causal variant in Belgian Stargardt patients
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An augmented ABCA4 screen targeting non-coding regions reveals a deep intronic founder causal variant in Belgian Stargardt patients
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An augmented ABCA4 screen targeting non-coding regions reveals a deep intronic founder causal variant in Belgian Stargardt patients
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Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy
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Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
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Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy
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Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
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Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
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Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
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Best-in-class PCR based target enrichment for NGS panels and Sanger variant confirmation
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SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein
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SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein
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SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein
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SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein
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- Journal Article
- A1
- open access
Hidden genetic variation in LCA9-associated congenital blindness explained by 5′UTR mutations and copy-number variations of NMNAT1
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Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice
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Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus
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An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients
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Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion
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Exploring the role of non-coding variation in hereditary blindness : Stargardt disease as a model
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Copy number analysis of ABCA4 in Belgian patients with Stargardt reveals exon 20-22 deletion
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Copy number analysis of ABCA4 in Belgian patients with Stargardt reveals exon 20-22 deletion
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Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy
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Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy
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Homozygous deletion of glutamate receptor gene GRID2 causes new hotfoot mutant phenotype, characterized by early-onset cerebellar ataxia and retinal dystrophy
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Homozygous deletion of glutamate receptor gene GRID2 causes new human hotfoot mutant phenotype, characterized by early-onset cerebellar ataxia and retinal dystrophy
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A case of dendritic cell, monocyte, B and NK lymphoid deficiency (DCML)
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- Journal Article
- A1
- open access
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy
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Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy
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Copy number analysis of ABCA4 in Belgian patients with Stargardt reveals exon 20-22 deletion
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A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease
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A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease
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Identity-by-descent mapping and exome sequencing reveals a new candidate gene for the primary congenital glaucoma locus GLC3E
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Identity-by-descent mapping and exome sequencing reveals a new candidate gene for the primary congenital glaucoma locus GLC3E
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Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in retinal dystrophies
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Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in retinal dystrophies
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Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in retinal dystrophies
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Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in hereditary blindness
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A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease
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Exome sequencing identifies a novel RP1 mutation in a Belgian family with autosomal dominant retinitis pigmentosa
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Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis
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A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease
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Exome sequencing identifies a novel RP1 mutation in a Belgian family with autosomal dominant retinitis pigmentosa
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Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis
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High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophy
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Identification of a novel, homozygous PCDH15 deletion in an USH1 patient using identity-by-descent mapping with a high-density SNP microarray
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Identification of a novel, homozygous PCDH15 deletion in an USH1 patient using identity-by-descent mapping with a high-density SNP microarray
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Identification of a novel, homozygous PCDH15 deletion in an USH1 patient using identity-by-descent mapping with a high-density SNP microarray
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Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
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Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
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Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
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Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
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Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis
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Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis
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Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function
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A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia
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- Journal Article
- A1
- open access
TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy
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Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis
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Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
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Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
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Identification and characterization of molecular defects underlying retinal dystrophies
(2011) -
IQCB1 Mutations in Patients with Leber Congenital Amaurosis
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Discordance for retinitis pigmentosa in two monozygotic twin pairs
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DNA-chipanalyse in de moleculaire diagnostiek van genetisch heterogene aandoeningen : netvliesaandoeningen als voorbeeld
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CEP290, a gene with many faces : mutation overview and presentation of CEP290base
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Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes
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Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial
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Local Complement Activation in Nasal Polyposis
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Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa