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- Journal Article
- A1
- open access
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease
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- 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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A systematic approach to characterize the contribution of 5'UTR variation to inherited retinal disease
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Isolated maculopathy and moderate rod-cone dystrophy represent the milder end of the RDH12-related retinal dystrophy spectrum
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Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C > A p.(Pro188Thr) in the C1QTNF5 gene