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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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- Journal Article
- A1
- open access
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
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Photoreceptor progenitor mRNA analysis reveals exon skipping resulting from the ABCA4 c.5461-10T/C mutation in Stargardt disease
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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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Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome
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A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma
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Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction
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- Journal Article
- A1
- open access
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
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Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement
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BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome
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IQCB1 Mutations in Patients with Leber Congenital Amaurosis
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Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa
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Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders