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Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies
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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
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
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- Journal Article
- A1
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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- Journal Article
- A1
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Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
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- Journal Article
- A1
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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