Publications
2019
Compound heterozygous novel frameshift variants in the gene result in Leber congenital amaurosis. |
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Hypoxic drive caused type 3 neovascularization in a preclinical model of exudative age-related macular degeneration. |
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Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa. |
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Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa. |
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Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a RhoD190N mutation. |
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Optical Coherence Tomography Angiography of RPGR-Associated Retinitis Pigmentosa Suggests Foveal Avascular Zone is a Biomarker for Vision Loss. |
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VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site. |
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Fundus autofluorescence and ellipsoid zone (EZ) line width can be an outcome measurement in RHO-associated autosomal dominant retinitis pigmentosa. |
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In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth. |
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Gain-of-function mutations in a member of the Src family kinases cause autoinflammatory bone disease in mice and humans. |
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