List of works - Frauke Coppieters

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia

scientific article

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

scientific article

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

scientific article published in January 2015

Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant Retinitis Pigmentosa

scientific article published on 10 May 2019

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

scientific article published on 31 October 2018

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

scientific article published on October 2010

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290

scientific article published on 01 September 2018

Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

scientific article published on 01 April 2019

Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

article

Discordance for retinitis pigmentosa in two monozygotic twin pairs

scientific article published in June 2011

Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.

scientific article published on 14 August 2014

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.

scientific article

Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function.

scientific article published on 19 June 2012

Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice

scientific article published on March 2015

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

scientific article published on 12 December 2019

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

scientific article published on 30 January 2020

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

scientific article

Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.

scientific article published on 28 August 2015

High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophy

scientific article

High-throughput PCR assay design for targeted resequencing using primerXL.

scientific article published on 6 September 2017

IQCB1 mutations in patients with leber congenital amaurosis.

scientific article

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

scientific article published on 13 March 2014

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

scientific article

Local complement activation in nasal polyposis.

scientific article published in September 2009

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

scientific article published on 27 July 2017

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

scientific article published on 26 January 2012

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

scientific article

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

scientific journal article

Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.

scientific article published on 12 February 2015

Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa

scientific article

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.

scientific article

Targeted resequencing and variant validation using pxlence PCR assays

scientific article published on 9 October 2015

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

scientific article published on 06 February 2019

The development of a novel SNP genotyping assay to differentiate cacao clones

scientific article published on 02 July 2019

Vaccination with early ferroptotic cancer cells induces efficient antitumor immunity

scientific article published on 01 November 2020

When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF.

scientific article

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

scientific article

List of works by Frauke Coppieters

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant Retinitis Pigmentosa

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290

Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Discordance for retinitis pigmentosa in two monozygotic twin pairs

Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.

Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function.

Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

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

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.

High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophy

High-throughput PCR assay design for targeted resequencing using primerXL.

IQCB1 mutations in patients with leber congenital amaurosis.

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

Local complement activation in nasal polyposis.

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.

Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.

Targeted resequencing and variant validation using pxlence PCR assays

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

The development of a novel SNP genotyping assay to differentiate cacao clones

Vaccination with early ferroptotic cancer cells induces efficient antitumor immunity

When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF.

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