Published in Mol Vis on October 14, 2002
Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment. Eye (Lond) (2011) 1.24
Visual contrast sensitivity in Alzheimer's disease, mild cognitive impairment, and older adults with cognitive complaints. Neurobiol Aging (2012) 1.13
Common variants on chromosome 9p21 are associated with normal tension glaucoma. PLoS One (2012) 0.98
A review of primary hereditary optic neuropathies. J Inherit Metab Dis (2003) 0.98
Apolipoprotein E polymorphisms and primary glaucoma in Saudis. Mol Vis (2009) 0.97
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Association of polymorphisms in APOE, p53, and p21 with primary open-angle glaucoma in Turkish patients. Mol Vis (2009) 0.93
Normal tension glaucoma is not associated with the common apolipoprotein E gene polymorphisms. Br J Ophthalmol (2004) 0.90
Gene expression and functional annotation of the human ciliary body epithelia. PLoS One (2012) 0.88
Prospective case control study on genetic assocation of apolipoprotein epsilon2 with intraocular pressure. Br J Ophthalmol (2004) 0.85
Association of IL1A and IL1B loci with primary open angle glaucoma. BMC Med Genet (2010) 0.84
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Lack of association of apolipoprotein E (Apo E) ε2/ε3/ε4 polymorphisms with primary open-angle glaucoma: a meta-analysis from 1916 cases and 1756 controls. PLoS One (2013) 0.79
Investigation of the association between interleukin-1beta polymorphism and normal tension glaucoma. Mol Vis (2007) 0.79
Role of the APOE ε2/ε3/ε4 polymorphism in the development of primary open-angle glaucoma: evidence from a comprehensive meta-analysis. PLoS One (2013) 0.78
Differential expression of genes in cells cultured from juxtacanalicular trabecular meshwork and Schlemm's canal. J Ocul Pharmacol Ther (2014) 0.78
Analysis of the expression and polymorphism of APOE, HSP, BDNF, and GRIN2B genes associated with the neurodegeneration process in the pathogenesis of primary open angle glaucoma. Biomed Res Int (2015) 0.77
Investigation of the association between the GLC3A locus and normal tension glaucoma in Japanese patients by microsatellite analysis. Clin Ophthalmol (2009) 0.75
An updated meta-analysis: apolipoprotein E genotypes and risk of primary open-angle glaucoma. Mol Vis (2014) 0.75
Apolipoprotein E gene ε4ε4 is associated with elevated risk of primary open angle glaucoma in Asians: a meta-analysis. BMC Med Genet (2014) 0.75
Genome-wide association studies: applications and insights gained in Ophthalmology. Eye (Lond) (2014) 0.75
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. Nat Genet (2009) 6.04
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell (2010) 4.37
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. Ann Neurol (2011) 3.52
Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. Nat Genet (2011) 3.07
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet (2010) 2.75
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet (2004) 2.70
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. Nat Genet (2011) 2.42
Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. Hum Mol Genet (2007) 2.42
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat Genet (2013) 2.36
Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet (2009) 2.35
How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania. Clin Experiment Ophthalmol (2007) 2.35
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Am J Hum Genet (2005) 2.20
Combined diode laser cyclophotocoagulation and intravitreal bevacizumab (Avastin) in neovascular glaucoma. Clin Experiment Ophthalmol (2010) 2.10
A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25. Nat Genet (2010) 2.10
Visual field assessment and the Austroads driving standard. Clin Experiment Ophthalmol (2002) 2.00
A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. Nat Genet (2010) 1.94
Retinal vascular caliber: systemic, environmental, and genetic associations. Surv Ophthalmol (2009) 1.94
Complex genetics of complex traits: the case of primary open-angle glaucoma. Clin Experiment Ophthalmol (2006) 1.91
Common variants at 12q14 and 12q24 are associated with hippocampal volume. Nat Genet (2012) 1.79
Reliability and validity of conjunctival ultraviolet autofluorescence measurement. Br J Ophthalmol (2012) 1.79
The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis. Hum Mol Genet (2010) 1.73
Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations. J Neuroophthalmol (2002) 1.71
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am J Hum Genet (2008) 1.69
Antifibrotic activity of bevacizumab on human Tenon's fibroblasts in vitro. Invest Ophthalmol Vis Sci (2010) 1.61
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. Hum Mutat (2009) 1.60
A clinical screening tool identifies autoimmune diabetes in adults. Diabetes Care (2006) 1.59
The association between time spent outdoors and myopia in children and adolescents: a systematic review and meta-analysis. Ophthalmology (2012) 1.58
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. PLoS Genet (2010) 1.57
Bleb vascularity following post-trabeculectomy subconjunctival bevacizumab: a pilot study. Clin Experiment Ophthalmol (2012) 1.57
Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. PLoS Genet (2010) 1.55
Human leukocyte antigen-DR15, low infant sibling exposure and multiple sclerosis: gene-environment interaction. Ann Neurol (2010) 1.55
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. Am J Hum Genet (2013) 1.53
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. Hum Mol Genet (2010) 1.53
Disease severity of familial glaucoma compared with sporadic glaucoma. Arch Ophthalmol (2006) 1.53
Incidence and predictors of glaucoma following surgery for congenital cataract in the first year of life in Victoria, Australia. Clin Experiment Ophthalmol (2013) 1.49
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat Genet (2013) 1.49
A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease. Hum Mol Genet (2012) 1.47
Effect of birth parameters on retinal vascular caliber: the Twins Eye Study in Tasmania. Hypertension (2009) 1.46
Digital quantification of human eye color highlights genetic association of three new loci. PLoS Genet (2010) 1.45
Effect of phacoemulsification on trabeculectomy function. Clin Experiment Ophthalmol (2013) 1.44
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma. Am J Ophthalmol (2003) 1.43
Regulation of the ITGA2 gene by epigenetic mechanisms in prostate cancer. Prostate (2015) 1.41
The safety and efficacy of brinzolamide 1%/timolol 0.5% fixed combination versus dorzolamide 2%/timolol 0.5% in patients with open-angle glaucoma or ocular hypertension. J Glaucoma (2009) 1.41
Glaucomatous optic neuropathy evaluation project: a standardized internet system for assessing skills in optic disc examination. Clin Experiment Ophthalmol (2011) 1.39
Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity. Clin Experiment Ophthalmol (2006) 1.39
A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis. PLoS One (2010) 1.38
Optic nerve head parameters of an indigenous population living within Central Australia. Clin Experiment Ophthalmol (2006) 1.38
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. Am J Hum Genet (2010) 1.38
Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet (2003) 1.37
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. Am J Hum Genet (2003) 1.37
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Invest Ophthalmol Vis Sci (2004) 1.36
Myocilin allele-specific glaucoma phenotype database. Hum Mutat (2008) 1.35
Genetic influences on handedness: data from 25,732 Australian and Dutch twin families. Neuropsychologia (2008) 1.34
A systematic meta-analysis of genetic association studies for diabetic retinopathy. Diabetes (2009) 1.33
Common genetic determinants of intraocular pressure and primary open-angle glaucoma. PLoS Genet (2012) 1.33
Vitamin D status: multifactorial contribution of environment, genes and other factors in healthy Australian adults across a latitude gradient. J Steroid Biochem Mol Biol (2013) 1.33
Central corneal thickness is highly heritable: the twin eye studies. Invest Ophthalmol Vis Sci (2005) 1.31
Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus. Invest Ophthalmol Vis Sci (2011) 1.29
Saliva-derived DNA performs well in large-scale, high-density single-nucleotide polymorphism microarray studies. Cancer Epidemiol Biomarkers Prev (2010) 1.27
The heritability of ocular traits. Surv Ophthalmol (2010) 1.26
An international collaborative family-based whole-genome linkage scan for high-grade myopia. Invest Ophthalmol Vis Sci (2009) 1.25
Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. Retina (2011) 1.24
Genetic dissection of the human leukocyte antigen region by use of haplotypes of Tasmanians with multiple sclerosis. Am J Hum Genet (2002) 1.21
Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. Eur J Hum Genet (2002) 1.20
Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Am J Ophthalmol (2007) 1.19
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci (2004) 1.19
The path to open-angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness. Invest Ophthalmol Vis Sci (2010) 1.18
Common sequence variation in the VEGFA gene predicts risk of diabetic retinopathy. Invest Ophthalmol Vis Sci (2009) 1.18
Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process. Eur J Hum Genet (2012) 1.17
A Glaucoma Case-control Study of the WDR36 Gene D658G sequence variant. Am J Ophthalmol (2006) 1.17
Does the addition of information on genotype improve prediction of the risk of melanoma and nonmelanoma skin cancer beyond that obtained from skin phenotype? Am J Epidemiol (2004) 1.14
Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree. Invest Ophthalmol Vis Sci (2005) 1.13
Functional and structural implications of the complement factor H Y402H polymorphism associated with age-related macular degeneration. Invest Ophthalmol Vis Sci (2008) 1.12
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions. Hum Mol Genet (2006) 1.11