F. Coppieters

发表

Local complement activation in nasal polyposis

C. Bachert, P. Van cauwenberge, P. Gevaert, 2009, The Laryngoscope.

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.

F. Riemslag, A. D. den Hollander, S. Bolz, 2012, American journal of human genetics.

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

Kathleen A. Marshall, G. Ying, E. Stone, 2009, The Lancet.

IQCB1 mutations in patients with leber congenital amaurosis.

S. Jacobson, A. D. den Hollander, E. Zrenner, 2011, Investigative ophthalmology & visual science.

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

I. Casteels, E. Baere, F. Coppieters, 2014, Genetics in Medicine.

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

E. De Baere, F. Coppieters, S. Lefever, 2019, Genes.

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

C. Klaver, B. Lorenz, C. Hoyng, 2018, Investigative ophthalmology & visual science.

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

B. Lambrecht, S. Rosenzweig, E. De Baere, 2017, Scientific Reports.

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

E. De Baere, R. De Rycke, F. Coppieters, 2019, Clinical genetics.

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

T. Langmann, M. Karlstetter, E. Baere, 2014, Genetics in Medicine.

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

B. Menten, Robrecht Cannoodt, E. De Baere, 2016, Genetics in Medicine.

When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF

M. Boon, M. De Bruyne, F. De Baets, 2018, Clinical pediatrics.

DC vaccines loaded with glioma cells killed by photodynamic therapy induce Th17 anti-tumor immunity and provide a four-gene signature for glioma prognosis

A. Vral, R. Raedt, C. Bachert, 2022, Cell death & disease.

Development of a next‐generation sequencing platform for retinal dystrophies, with LCA and RP as proof of concept

F. Coppieters, 2010, Bulletin de la Societe belge d'ophtalmologie.

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

A. Hoischen, C. Rivolta, P. Farinelli, 2022, Frontiers in Cell and Developmental Biology.

Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice

J. Vandesompele, J. Hellemans, E. Baere, 2015, Human mutation.

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

E. Baere, F. Coppieters, M. Hawlina, 2012, Documenta Ophthalmologica.

Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes

T. de Ravel, H. Van Esch, I. Casteels, 2010, Human mutation.

Vaccination with early ferroptotic cancer cells induces efficient antitumor immunity

H. Hammad, C. Bachert, C. Fimognari, 2020, Journal for ImmunoTherapy of Cancer.

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

R. Veitia, L. Looijenga, H. Stoop, 2016, Genetics in Medicine.

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

C. Rivolta, T. Langmann, P. Farinelli, 2016, American journal of human genetics.

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

J. Lupski, M. Greenberg, T. Langmann, 2017, Genetics in Medicine.

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

C. Klaver, A. D. den Hollander, S. Letteboer, 2014, American journal of human genetics.

Selection and validation of reference genes for accurate RT-qPCR gene expression normalization in cacao beans during fermentation

J. Vandesompele, K. Dewettinck, K. Messens, 2021, Tree Genetics & Genomes.

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

J. van den Ende, M. McKibbin, C. Inglehearn, 2018, Genetics in Medicine.

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

K. Devriendt, S. Janssens, S. Walraedt, 2015, Investigative ophthalmology & visual science.

ISOLATED MACULOPATHY AND MODERATE ROD–CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM

M. De Bruyne, F. Coppieters, J. de Zaeytijd, 2020, Retina.

Phenotype of RDH12-related Early-Onset Retinal Dystrophy

E. Baere, S. Walraedt, F. Coppieters, 2011 .

Selection and validation of reference genes for accurate RT-qPCR gene expression normalization in cacao beans during fermentation

J. Vandesompele, K. Dewettinck, K. Messens, 2021, Tree Genetics & Genomes.

High-throughput PCR assay design for targeted resequencing using primerXL

Jo Vandesompele, Filip Pattyn, Steve Lefever, 2017, BMC Bioinformatics.

Hidden Genetic Variation in LCA9‐Associated Congenital Blindness Explained by 5′UTR Mutations and Copy‐Number Variations of NMNAT1

R. Veitia, M. De Bruyne, F. Coppieters, 2015, Human mutation.

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

F. Coppieters, S. Lefever, B. Leroy, 2010, Human mutation.

An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients

T. de Ravel, K. Dahan, M. de Rademaeker, 2015, Human mutation.

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

C. Bachert, C. Rivolta, P. Farinelli, 2020, Human mutation.

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

K. Dewettinck, K. Messens, F. Coppieters, 2019, Scientific Reports.

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

J. Vandesompele, J. Hellemans, F. Pattyn, 2012, Genetics in Medicine.

HIGH-RESOLUTION OPTICAL COHERENCE TOMOGRAPHY, AUTOFLUORESCENCE, AND INFRARED REFLECTANCE IMAGING IN SJÖGREN RETICULAR DYSTROPHY

S. Brodie, E. Baere, F. Coppieters, 2013, Retina.

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

J. Hellemans, G. Haegeman, D. Beysen, 2007, American journal of human genetics.

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy

M. Abramowicz, F. Coppieters, N. van Regemorter, 2012, Molecular vision.

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

J. van den Ende, M. McKibbin, C. Inglehearn, 2018, Genetics in Medicine.

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

R. Vandenbroucke, F. Coppieters, J. de Zaeytijd, 2019, Human mutation.

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

T. de Ravel, I. Casteels, E. Fransen, 2017, PloS one.

Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene

M. De Bruyne, F. Coppieters, J. de Zaeytijd, 2021, Ophthalmic genetics.

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

G. Arno, F. Van den Broeck, M. De Bruyne, 2023, medRxiv.

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

B. Lambrecht, S. Rosenzweig, H. Kuehn, 2017, Scientific Reports.

High-throughput PCR assay design for targeted resequencing using primerXL

J. Vandesompele, J. Hellemans, F. Pattyn, 2017, BMC Bioinformatics.

Targeted resequencing and variant validation using pxlence PCR assays

J. Vandesompele, F. Coppieters, S. Lefever, 2015, Biomolecular detection and quantification.

Differential protease content of mast cells and the processing of IL-33 in Alternaria alternata induced allergic airway inflammation in mice

C. Bachert, G. Holtappels, F. Coppieters, 2023, Frontiers in Immunology.

Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

E. Baere, F. Coppieters, A. Willaert, 2023, medRxiv.

Performance Evaluation of Three DNA Sample Tracking Tools in a Whole Exome Sequencing Workflow

J. Vandesompele, F. Coppieters, S. Lefever, 2022, Molecular Diagnosis & Therapy.

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

C. Klaver, B. Lorenz, C. Hoyng, 2018, Investigative ophthalmology & visual science.

Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease

G. Arno, M. De Bruyne, F. Coppieters, 2024, Genome medicine.