about
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trialIsolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in UbiquitinationNR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex developmentarrEYE: 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.Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice.TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesA nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.Targeted resequencing and variant validation using pxlence PCR assaysHidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.CEP290, a gene with many faces: mutation overview and presentation of CEP290base.Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.High-throughput PCR assay design for targeted resequencing using primerXL.Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypesLocal complement activation in nasal polyposis.Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF.Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function.IQCB1 mutations in patients with leber congenital amaurosis.Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseThe N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bondClinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility
P50
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P50
description
onderzoeker
@nl
researcher ORCID ID = 0000-0001-7224-0992
@en
name
Frauke Coppieters
@ast
Frauke Coppieters
@en
Frauke Coppieters
@es
Frauke Coppieters
@nl
type
label
Frauke Coppieters
@ast
Frauke Coppieters
@en
Frauke Coppieters
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Frauke Coppieters
@nl
prefLabel
Frauke Coppieters
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Frauke Coppieters
@en
Frauke Coppieters
@es
Frauke Coppieters
@nl
P106
P31
P496
0000-0001-7224-0992