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Mapping the 3D genome of the human retina and its role in retinal disease
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- Conference Paper
- C3
- open access
Mapping the 3D genome of the human retina and its role in retinal disease
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- Journal Article
- A1
- open access
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
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Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
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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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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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CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients
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- Journal Article
- A1
- open access
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy
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- Journal Article
- A1
- open access
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy
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Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations