ArticleAmerican journal of human genetics2000
A novel locus for Leber congenital amaurosis maps to chromosome 6q.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- Recovery of cone-mediated vision in Lebercilin associated retinal ciliopathy after gene therapy: One-year results of a phase I/II trial.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Trial
- CRISPR-Cas9 correction of a nonsense mutation inMolecular therapy. Methods & clinical development · 2023Article
- Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in theGenes · 2023Article
- Review
- Overexpression of FAM46A, a Non-canonical Poly(A) Polymerase, Promotes Hemin-Induced Hemoglobinization in K562 Cells.Frontiers in cell and developmental biology · 2020Article
- Voretigene Neparvovec and Gene Therapy for Leber's Congenital Amaurosis: Review of Evidence to Date.The application of clinical genetics · 2020Review
- Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.Molecular genetics and genomics : MGG · 2018Article
- Article
- Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.Human mutation · 2013Article
- Spotlight on childhood blindness.The Journal of clinical investigation · 2011Article
- Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.Molecular vision · 2011Article
- Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.Molecular vision · 2009Article
- Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.Molecular vision · 2008Article
- Identification of differentially regulated proteins in a patient with Leber's Congenital Amaurosis--a proteomic study.Proteome science · 2007Article
- Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2005Article
- Synaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant mice.BMC neuroscience · 2005Article
- Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.American journal of human genetics · 2004Article
- An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis.The British journal of ophthalmology · 2003Article
- Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene.Investigative ophthalmology & visual science · 2003Article
- Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.The British journal of ophthalmology · 2003Article
Corrections and comments
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Authors and funding
9 authors.
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Abstract
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Registered trials
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