Published in Invest Ophthalmol Vis Sci on February 01, 2005
The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles. J Neurosci (2006) 1.93
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest (2010) 1.85
Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations. Invest Ophthalmol Vis Sci (2007) 1.37
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Hum Mol Genet (2008) 1.36
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. J Hum Genet (2009) 0.96
Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C. Invest Ophthalmol Vis Sci (2009) 0.93
Retinal disease course in Usher syndrome 1B due to MYO7A mutations. Invest Ophthalmol Vis Sci (2011) 0.90
A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family. J Med Genet (2009) 0.90
TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones. Invest Ophthalmol Vis Sci (2014) 0.85
Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations. Invest Ophthalmol Vis Sci (2013) 0.85
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. Eur J Hum Genet (2015) 0.83
A profile of transcriptomic changes in the rd10 mouse model of retinitis pigmentosa. Mol Vis (2014) 0.79
A mutation in Myo15 leads to Usher-like symptoms in LEW/Ztm-ci2 rats. PLoS One (2011) 0.77
Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography. Invest Ophthalmol Vis Sci (2014) 0.77
Adhesion G-protein-coupled receptors: elusive hybrids come of age. Cell Commun Adhes (2013) 0.75
Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med (2008) 17.21
Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum Gene Ther (2008) 8.83
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci U S A (2008) 7.16
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet (2009) 6.71
Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness. Mol Ther (2005) 4.74
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc Natl Acad Sci U S A (2006) 4.16
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success. Proc Natl Acad Sci U S A (2005) 4.04
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration. Mol Ther (2009) 3.93
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. Arch Ophthalmol (2011) 3.79
Ranibizumab therapy for neovascular age-related macular degeneration. N Engl J Med (2010) 3.71
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Interim results from the international trial of Second Sight's visual prosthesis. Ophthalmology (2012) 3.35
Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer. Mol Ther (2008) 3.28
Improvement and decline in vision with gene therapy in childhood blindness. N Engl J Med (2015) 3.16
Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. Proc Natl Acad Sci U S A (2004) 3.11
Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year. Hum Gene Ther (2009) 3.07
New approaches to the treatment of dense deposit disease. J Am Soc Nephrol (2007) 3.02
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Proc Natl Acad Sci U S A (2004) 3.01
Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease. Am J Hum Genet (2004) 2.97
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet (2002) 2.94
Regulation of gene expression in the mammalian eye and its relevance to eye disease. Proc Natl Acad Sci U S A (2006) 2.91
Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis. Invest Ophthalmol Vis Sci (2004) 2.72
Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement. Proc Natl Acad Sci U S A (2013) 2.71
Small interfering RNA (siRNA) targeting VEGF effectively inhibits ocular neovascularization in a mouse model. Mol Vis (2003) 2.68
Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). Am J Hum Genet (2004) 2.67
Vision 1 year after gene therapy for Leber's congenital amaurosis. N Engl J Med (2009) 2.57
In utero gene therapy rescues vision in a murine model of congenital blindness. Mol Ther (2004) 2.56
VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet (2002) 2.49
Aflibercept therapy for exudative age-related macular degeneration resistant to bevacizumab and ranibizumab. Am J Ophthalmol (2013) 2.45
LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States. Am J Ophthalmol (2007) 2.43
Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice. J Clin Invest (2008) 2.40
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proc Natl Acad Sci U S A (2007) 2.36
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Hum Mol Genet (2006) 2.32
Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence. Hum Mol Genet (2004) 2.30
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet (2002) 2.29
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am J Hum Genet (2005) 2.25
Human cone photoreceptor dependence on RPE65 isomerase. Proc Natl Acad Sci U S A (2007) 2.21
Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology (2012) 2.21
Lateral connectivity and contextual interactions in macaque primary visual cortex. Neuron (2002) 2.16
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet (2004) 2.15
Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection. Mol Ther (2006) 2.13
Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies. J Clin Invest (2010) 2.13
Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa. Proc Natl Acad Sci U S A (2012) 2.12
Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. Invest Ophthalmol Vis Sci (2006) 2.10