Associated Papers
Predisposing deleterious variants in the cancer-associated human kinases in the global populations.
Khan SA et al.
Plos One, 2024
38635549 (PubMed )
Supplement: pone.0298747.s003.xlsx › ExAC_deleterious_SNPs
A mouse model of cone photoreceptor function loss (cpfl9) with degeneration due to a mutation in Gucy2e.
Naggert ASEN et al.
Frontiers in Molecular Neuroscience, 2022
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.
Sharon D et al.
Progress in Retinal and Eye Research, 2018
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Van Schil K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
28749477 (PubMed )
Supplement: gim201797x2.xlsx › Sheet1
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.
Xu Y et al.
Experimental Eye Research, 2016
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
Li L et al.
Plos One, 2011
21602930 (PubMed )
Supplement: pone.0019458.s003.xls › Sheet1
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Walia S et al.
Ophthalmology, 2010
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination.
Jacobson SG et al.
Human Molecular Genetics, 2003
An overview of Leber congenital amaurosis: a model to understand human retinal development.
Koenekoop RK
Survey of Ophthalmology, 0
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