Published in N Engl J Med on October 05, 2006
Choriocapillaris vascular dropout related to density of drusen in human eyes with early age-related macular degeneration. Invest Ophthalmol Vis Sci (2011) 1.85
Complement component C5a activates ICAM-1 expression on human choroidal endothelial cells. Invest Ophthalmol Vis Sci (2010) 1.26
VEGFR1-mediated pericyte ablation links VEGF and PlGF to cancer-associated retinopathy. Proc Natl Acad Sci U S A (2009) 1.16
Concise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye Disease. Stem Cells Transl Med (2015) 1.08
Vascular endothelial cell growth factor-a: not just for endothelial cells anymore. Am J Pathol (2007) 1.07
Treatment of age-related macular degeneration: focus on ranibizumab. Clin Ophthalmol (2008) 0.96
Elastin-mediated choroidal endothelial cell migration: possible role in age-related macular degeneration. Invest Ophthalmol Vis Sci (2008) 0.93
Cost-effectiveness of ranibizumab for neovascular age-related macular degeneration. Cost Eff Resour Alloc (2008) 0.92
Age related macular degeneration. BMJ (2006) 0.81
Vascular Mimicry: Concepts and Implications for Anti-Angiogenic Therapy. Curr Angiogenes (2012) 0.80
Tumor endothelial cells join the resistance. Clin Cancer Res (2009) 0.80
Treatment of peripheral exudative hemorrhagic chorioretinopathy by intravitreal injections of ranibizumab. Clin Ophthalmol (2012) 0.80
The anti-migratory effects of FKBPL and its peptide derivative, AD-01: regulation of CD44 and the cytoskeletal pathway. PLoS One (2013) 0.80
Ranibizumab: the evidence of its therapeutic value in neovascular age-related macular degeneration. Core Evid (2008) 0.80
Molecular responses of choroidal endothelial cells to elastin derived peptides through the elastin-binding protein (GLB1). Matrix Biol (2011) 0.80
Angiogenin in age-related macular degeneration. Mol Vis (2011) 0.80
Surgical approaches to gene and stem cell therapy for retinal disease. Hum Gene Ther (2011) 0.79
Cost-effectiveness of smoking cessation to prevent age-related macular degeneration. Cost Eff Resour Alloc (2008) 0.76
DNA methylation landscape of ocular tissue relative to matched peripheral blood. Sci Rep (2017) 0.75
Ranibizumab for neovascular age-related macular degeneration. N Engl J Med (2006) 30.63
Ranibizumab versus verteporfin for neovascular age-related macular degeneration. N Engl J Med (2006) 20.84
Age-related macular degeneration. N Engl J Med (2006) 5.06
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
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 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
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
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
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
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
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
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
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
Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. Invest Ophthalmol Vis Sci (2006) 2.10
Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations. Invest Ophthalmol Vis Sci (2008) 2.06
Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations. Invest Ophthalmol Vis Sci (2008) 2.05
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Hum Mol Genet (2005) 2.04
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum Mol Genet (2003) 1.98
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics (2006) 1.93
Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. Proc Natl Acad Sci U S A (2011) 1.87
Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Hum Mol Genet (2011) 1.74
The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Proc Natl Acad Sci U S A (2002) 1.73
Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model. Invest Ophthalmol Vis Sci (2011) 1.69
Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma. J Clin Invest (2011) 1.69
ABCA4 disease progression and a proposed strategy for gene therapy. Hum Mol Genet (2008) 1.69
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis. Hum Mutat (2007) 1.67
Myocilin glaucoma. Surv Ophthalmol (2002) 1.63
Photoreceptor structure and function in patients with congenital achromatopsia. Invest Ophthalmol Vis Sci (2011) 1.61
Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations. J Opt Soc Am A Opt Image Sci Vis (2007) 1.57
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. Genet Med (2010) 1.56
Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. Invest Ophthalmol Vis Sci (2007) 1.54
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. Invest Ophthalmol Vis Sci (2008) 1.54
Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease. Invest Ophthalmol Vis Sci (2007) 1.53
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. Arch Ophthalmol (2003) 1.50
The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. Hum Mol Genet (2007) 1.47
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. Hum Mutat (2004) 1.45
Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure. Hum Mol Genet (2007) 1.44
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma. Am J Ophthalmol (2003) 1.43
Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation. Arch Ophthalmol (2005) 1.42
Which Leber congenital amaurosis patients are eligible for gene therapy trials? J AAPOS (2009) 1.42
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. J Biol Chem (2012) 1.42
ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina. Invest Ophthalmol Vis Sci (2005) 1.40
Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. Invest Ophthalmol Vis Sci (2006) 1.39
Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure. J Clin Invest (2008) 1.39
Retinal synthesis and deposition of complement components induced by ocular hypertension. Exp Eye Res (2006) 1.37
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. Hum Mol Genet (2004) 1.36
RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression. Invest Ophthalmol Vis Sci (2007) 1.34
Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa. Elife (2013) 1.33
BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. Hum Mol Genet (2012) 1.33
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes. Proc Natl Acad Sci U S A (2011) 1.32
Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene. Invest Ophthalmol Vis Sci (2008) 1.31
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. Am J Ophthalmol (2003) 1.30
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. Ophthalmology (2010) 1.30
Variations in the myocilin gene in patients with open-angle glaucoma. Arch Ophthalmol (2002) 1.28
Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage. Invest Ophthalmol Vis Sci (2007) 1.28
Genome-wide identification of pseudogenes capable of disease-causing gene conversion. Hum Mutat (2006) 1.27
Use of a synthetic xeno-free culture substrate for induced pluripotent stem cell induction and retinal differentiation. Stem Cells Transl Med (2012) 1.27
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. Hum Mol Genet (2011) 1.27
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. Hum Mol Genet (2013) 1.27
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet (2003) 1.27
Complement component C5a activates ICAM-1 expression on human choroidal endothelial cells. Invest Ophthalmol Vis Sci (2010) 1.26
Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials. Invest Ophthalmol Vis Sci (2012) 1.26
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. Ophthalmic Genet (2008) 1.24
Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis. Invest Ophthalmol Vis Sci (2009) 1.24
Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. Retina (2011) 1.24
CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. Invest Ophthalmol Vis Sci (2009) 1.21
Elevated membrane attack complex in human choroid with high risk complement factor H genotypes. Exp Eye Res (2011) 1.21
Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining. Invest Ophthalmol Vis Sci (2011) 1.19
Genomics and the eye. N Engl J Med (2011) 1.17
Evaluation of genotype-phenotype associations in leber congenital amaurosis. Retina (2005) 1.14
Adeno-associated virus type 5: transduction efficiency and cell-type specificity in the primate retina. Hum Gene Ther (2003) 1.12
Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His. Hum Mutat (2006) 1.12
A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD). Invest Ophthalmol Vis Sci (2005) 1.12
Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform. PLoS Genet (2010) 1.12
Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide. Am J Ophthalmol (2008) 1.11
The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness. Hum Mol Genet (2011) 1.11
Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications. Arch Ophthalmol (2011) 1.11
Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort. Mol Vis (2011) 1.11
Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants. Hum Mol Genet (2012) 1.10
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. PLoS Genet (2012) 1.10
QRX, a novel homeobox gene, modulates photoreceptor gene expression. Hum Mol Genet (2004) 1.10
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population. Hum Mol Genet (2010) 1.10
TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice. Invest Ophthalmol Vis Sci (2012) 1.09
Wide-field spectral-domain optical coherence tomography in patients and carriers of X-linked retinoschisis. Ophthalmology (2012) 1.09
BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking. J Cell Sci (2013) 1.08
Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. Invest Ophthalmol Vis Sci (2005) 1.06
Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy. Arch Ophthalmol (2011) 1.06
Structural and biochemical analyses of choroidal thickness in human donor eyes. Invest Ophthalmol Vis Sci (2014) 1.06
The natural history of stargardt disease with specific sequence mutation in the ABCA4 gene. Invest Ophthalmol Vis Sci (2009) 1.06
Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. Ophthalmology (2003) 1.06
No association between variations in the WDR36 gene and primary open-angle glaucoma. Arch Ophthalmol (2007) 1.06
Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin. Am J Ophthalmol (2008) 1.06
Human photoreceptor outer segments shorten during light adaptation. Invest Ophthalmol Vis Sci (2013) 1.05