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De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
(2025) -
- Journal Article
- A1
- open access
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
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- Journal Article
- A1
- open access
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
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- Journal Article
- A1
- open access
Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4
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- Journal Article
- A1
- open access
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
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Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics
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Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease
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Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity
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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 IMPG1 cause vitelliform macular dystrophies