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- Journal Article
- A1
- open access
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
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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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Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss
(2019) -
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
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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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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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Where are the missing gene defects in inherited retinal disorders? : intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders
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Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease
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- Journal Article
- A1
- open access
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
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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