about
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.Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesHidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.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.Quantitative analysis of venation patterns of Arabidopsis leaves by supervised image analysis.The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR GeneCorrection: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variationsEffect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defectThe N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bondABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variantsClinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290
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description
researcher ORCID ID = 0000-0002-1948-9091
@en
wetenschapper
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name
Caroline Van Cauwenbergh
@ast
Caroline Van Cauwenbergh
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Caroline Van Cauwenbergh
@es
Caroline Van Cauwenbergh
@nl
type
label
Caroline Van Cauwenbergh
@ast
Caroline Van Cauwenbergh
@en
Caroline Van Cauwenbergh
@es
Caroline Van Cauwenbergh
@nl
prefLabel
Caroline Van Cauwenbergh
@ast
Caroline Van Cauwenbergh
@en
Caroline Van Cauwenbergh
@es
Caroline Van Cauwenbergh
@nl
P106
P21
P31
P496
0000-0002-1948-9091