Published in Hum Mol Genet on August 19, 2013
Biology and therapy of inherited retinal degenerative disease: insights from mouse models. Dis Model Mech (2015) 1.05
Common and rare genetic risk factors for glaucoma. Cold Spring Harb Perspect Med (2014) 0.85
Native American ancestry is associated with severe diabetic retinopathy in Latinos. Invest Ophthalmol Vis Sci (2014) 0.85
Transcriptome of the human retina, retinal pigmented epithelium and choroid. Genomics (2015) 0.82
Common eye diseases in older adults of southern Germany: results from the KORA-Age study. Age Ageing (2016) 0.79
Expression Profiling of Human Schlemm's Canal Endothelial Cells From Eyes With and Without Glaucoma. Invest Ophthalmol Vis Sci (2015) 0.78
Genetics and age-related macular degeneration: a practical review for the clinician. Clin Ophthalmol (2016) 0.77
[Current recommendations for deceleration of myopia progression]. Ophthalmologe (2017) 0.77
Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration. Sci Rep (2016) 0.75
Erratum. Invest Ophthalmol Vis Sci (2016) 0.75
Major review: Molecular genetics of primary open-angle glaucoma. Exp Eye Res (2017) 0.75
Complement factor H polymorphism in age-related macular degeneration. Science (2005) 31.10
Prevalence of age-related macular degeneration in the United States. Arch Ophthalmol (2004) 18.86
Complement factor H variant increases the risk of age-related macular degeneration. Science (2005) 17.95
Complement factor H polymorphism and age-related macular degeneration. Science (2005) 17.79
A comprehensive review of genetic association studies. Genet Med (2002) 16.75
Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet (2003) 16.51
Causes and prevalence of visual impairment among adults in the United States. Arch Ophthalmol (2004) 13.78
Genomewide association studies and assessment of the risk of disease. N Engl J Med (2010) 11.51
Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet (2006) 8.33
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science (2007) 7.55
Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nat Genet (2006) 7.49
HTRA1 promoter polymorphism in wet age-related macular degeneration. Science (2006) 7.12
Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med (2007) 6.47
Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet (2005) 6.36
Long-term complications of diabetes mellitus. N Engl J Med (1993) 5.36
Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet (2005) 4.91
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A (2010) 4.30
The Wisconsin Epidemiologic Study of Diabetic Retinopathy: XVII. The 14-year incidence and progression of diabetic retinopathy and associated risk factors in type 1 diabetes. Ophthalmology (1998) 4.21
Elastic fiber homeostasis requires lysyl oxidase-like 1 protein. Nat Genet (2004) 3.83
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proc Natl Acad Sci U S A (2010) 3.33
Variation near complement factor I is associated with risk of advanced AMD. Eur J Hum Genet (2008) 3.29
Risk factors for the incidence of Advanced Age-Related Macular Degeneration in the Age-Related Eye Disease Study (AREDS) AREDS report no. 19. Ophthalmology (2005) 3.28
Myopia. Lancet (2012) 3.27
Pharmacogenetics for genes associated with age-related macular degeneration in the Comparison of AMD Treatments Trials (CATT). Ophthalmology (2013) 2.82
Familial aggregation of age-related maculopathy. Am J Ophthalmol (1997) 2.77
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet (2010) 2.75
The Beaver Dam Eye Study. Retinopathy in adults with newly discovered and previously diagnosed diabetes mellitus. Ophthalmology (1992) 2.70
Exome sequencing identifies ZNF644 mutations in high myopia. PLoS Genet (2011) 2.52
A prospective study of 2 major age-related macular degeneration susceptibility alleles and interactions with modifiable risk factors. Arch Ophthalmol (2007) 2.50
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. Nat Genet (2011) 2.42
Sibling correlations and segregation analysis of age-related maculopathy: the Beaver Dam Eye Study. Genet Epidemiol (1994) 2.39
Prevalence of nonrefractive visual impairment in US adults and associated risk factors, 1999-2002 and 2005-2008. JAMA (2012) 2.36
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat Genet (2013) 2.36
Bringing genome-wide association findings into clinical use. Nat Rev Genet (2013) 2.32
Genetic risk of age-related maculopathy. Population-based familial aggregation study. Arch Ophthalmol (1998) 2.31
A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25. Nat Genet (2010) 2.10
Therapeutic targeting of the complement system in age-related macular degeneration: a review. Clin Experiment Ophthalmol (2012) 2.03
Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. PLoS Genet (2012) 2.00
A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. Nat Genet (2010) 1.94
A genome-wide association study of optic disc parameters. PLoS Genet (2010) 1.87
Relationship of hyperglycemia to the long-term incidence and progression of diabetic retinopathy. Arch Intern Med (1994) 1.78
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA. Hum Mol Genet (2011) 1.77
Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications. Proc Natl Acad Sci U S A (2008) 1.70
Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia. PLoS Genet (2013) 1.68
Risk models for progression to advanced age-related macular degeneration using demographic, environmental, genetic, and ocular factors. Ophthalmology (2011) 1.61
Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. PLoS Genet (2010) 1.55
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. Hum Mol Genet (2010) 1.53
Collagen-related genes influence the glaucoma risk factor, central corneal thickness. Hum Mol Genet (2010) 1.52
Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma. Nat Genet (2012) 1.51
Phosphorylation-dependent activation of the Ras-GRF/CDC25Mm exchange factor by muscarinic receptors and G-protein beta gamma subunits. Nature (1996) 1.49
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat Genet (2013) 1.49
A genome-wide association analysis identified a novel susceptible locus for pathological myopia at 11q24.1. PLoS Genet (2009) 1.43
New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8. Hum Mol Genet (2010) 1.41
Genotype-correlated expression of lysyl oxidase-like 1 in ocular tissues of patients with pseudoexfoliation syndrome/glaucoma and normal patients. Am J Pathol (2008) 1.38
Genome-wide meta-analysis for severe diabetic retinopathy. Hum Mol Genet (2011) 1.36
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. Hum Mutat (2010) 1.35
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
Genome-wide linkage analyses to identify Loci for diabetic retinopathy. Diabetes (2007) 1.29
Heritability of the severity of diabetic retinopathy: the FIND-Eye study. Invest Ophthalmol Vis Sci (2008) 1.29
Prevalence of diabetic retinopathy in Type 2 diabetes in developing and developed countries. Diabet Med (2013) 1.25
Heritability of proliferative diabetic retinopathy. Diabetes (2008) 1.25
Whole genome assessment of the retinal response to diabetes reveals a progressive neurovascular inflammatory response. BMC Med Genomics (2008) 1.23
Genome-wide association study of diabetic retinopathy in a Taiwanese population. Ophthalmology (2011) 1.23
Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe). Invest Ophthalmol Vis Sci (2011) 1.22
Gene-environment interaction in progression of AMD: the CFH gene, smoking and exposure to chronic infection. Hum Mol Genet (2008) 1.17
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. PLoS One (2013) 1.16
Identification of Diabetic Retinopathy Genes through a Genome-Wide Association Study among Mexican-Americans from Starr County, Texas. J Ophthalmol (2010) 1.14
Genome-wide association study in a Chinese population with diabetic retinopathy. Hum Mol Genet (2013) 1.13
LOXL1 promoter haplotypes are associated with exfoliation syndrome in a U.S. Caucasian population. Invest Ophthalmol Vis Sci (2011) 1.09
A genome-wide association study reveals association between common variants in an intergenic region of 4q25 and high-grade myopia in the Chinese Han population. Hum Mol Genet (2011) 1.09
Regulation of lysyl oxidase-like 1 (LOXL1) and elastin-related genes by pathogenic factors associated with pseudoexfoliation syndrome. Invest Ophthalmol Vis Sci (2011) 1.07
Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error. Hum Mol Genet (2013) 1.01
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. Am J Hum Genet (2013) 0.99
Regulation of scleral metabolism in myopia and the role of transforming growth factor-beta. Exp Eye Res (2013) 0.96
Mutations in LRPAP1 are associated with severe myopia in humans. Am J Hum Genet (2013) 0.96
TCF7L2 gene polymorphisms and type 2 diabetes: association with diabetic retinopathy and cardiovascular autonomic neuropathy. Acta Diabetol (2012) 0.94
TCF7L2 variation and proliferative diabetic retinopathy. Diabetes (2013) 0.93
Focusing in on the complex genetics of myopia. PLoS Genet (2013) 0.93
A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population. Hum Mol Genet (2013) 0.92
Associations of cigarette smoking but not serum fatty acids with age-related macular degeneration in a Japanese population. Ophthalmology (2011) 0.91
Using the Utah Population Database to assess familial risk of primary open angle glaucoma. Vision Res (2010) 0.91
Association between erythropoietin gene polymorphisms and diabetic retinopathy. Arch Ophthalmol (2010) 0.90
Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility. Mol Vis (2012) 0.89
Transcription factor 7-like 2 (TCF7L2) gene polymorphism and complication/comorbidity profile in type 2 diabetes patients. Diabetes Res Clin Pract (2011) 0.85
Precursors of age-related macular degeneration: associations with physical activity, obesity, and serum lipids in the inter99 eye study. Invest Ophthalmol Vis Sci (2013) 0.85
Association of genetic variants with primary angle closure glaucoma in two different populations. PLoS One (2013) 0.85
Replication analysis for severe diabetic retinopathy. Invest Ophthalmol Vis Sci (2012) 0.84
Review of key findings from the Singapore Malay Eye Study (SiMES-1). Singapore Med J (2012) 0.80
Common variant in VEGFA and response to anti-VEGF therapy for neovascular age-related macular degeneration. Curr Mol Med (2013) 0.78
Comparative effects of posterior eye cup tissues from myopic and hyperopic chick eyes on cultured scleral fibroblasts. Exp Eye Res (2012) 0.78
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Complement factor H variant increases the risk of age-related macular degeneration. Science (2005) 17.95
Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med (2007) 17.06
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet (2009) 8.44
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet (2004) 7.45
Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature (2009) 7.39
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. Nat Genet (2009) 7.16
A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science (2005) 7.03
Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record. Am J Hum Genet (2010) 6.44
The architecture of gene regulatory variation across multiple human tissues: the MuTHER study. PLoS Genet (2011) 5.95
A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set. Am J Hum Genet (2003) 5.34
Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. Nat Genet (2007) 5.09
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. Nat Biotechnol (2013) 4.85
No gene is an island: the flip-flop phenomenon. Am J Hum Genet (2007) 4.69
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet (2013) 4.62
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature (2011) 4.56
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Genet Med (2013) 4.37
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A (2010) 4.30
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet (2012) 3.68
Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. Am J Hum Genet (2009) 3.54
The Gene, Environment Association Studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions. Genet Epidemiol (2010) 3.48
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet (2003) 3.39
Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science. Circulation (2010) 3.35
Genetics, statistics and human disease: analytical retooling for complexity. Trends Genet (2004) 3.35
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proc Natl Acad Sci U S A (2010) 3.33
Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice. Nat Genet (2001) 3.30
Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis. Hum Mol Genet (2006) 3.13
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. Nat Genet (2011) 3.06
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. Nat Genet (2011) 3.03
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet (2002) 2.98
The Next PAGE in understanding complex traits: design for the analysis of Population Architecture Using Genetics and Epidemiology (PAGE) Study. Am J Epidemiol (2011) 2.98
Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Arch Neurol (2010) 2.91
Age at onset in two common neurodegenerative diseases is genetically controlled. Am J Hum Genet (2002) 2.90
Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. Am J Hum Genet (2006) 2.89
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet (2005) 2.79
Clustering of autoimmune diseases in families with a high-risk for multiple sclerosis: a descriptive study. Lancet Neurol (2006) 2.77
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet (2010) 2.75
Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans. Am J Hum Genet (2003) 2.71
Genomic screen and follow-up analysis for autistic disorder. Am J Med Genet (2002) 2.70
Evidence for polygenic susceptibility to multiple sclerosis--the shape of things to come. Am J Hum Genet (2010) 2.64
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism. BMC Med (2009) 2.60
Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans. JAMA (2013) 2.58
Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. Am J Hum Genet (2004) 2.58
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation (2008) 2.56
A high-density screen for linkage in multiple sclerosis. Am J Hum Genet (2005) 2.50
Quality control procedures for genome-wide association studies. Curr Protoc Hum Genet (2011) 2.48
Exome sequencing of a multigenerational human pedigree. PLoS One (2009) 2.48
Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46
The role of the CD58 locus in multiple sclerosis. Proc Natl Acad Sci U S A (2009) 2.38
Cohort Profile: TwinsUK and healthy ageing twin study. Int J Epidemiol (2012) 2.37
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat Genet (2013) 2.36
Analysis of European mitochondrial haplogroups with Alzheimer disease risk. Neurosci Lett (2004) 2.36
Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet (2005) 2.34
Conversion to aflibercept for chronic refractory or recurrent neovascular age-related macular degeneration. Am J Ophthalmol (2013) 2.32
Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants. PLoS Genet (2012) 2.23
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Ann Hum Genet (2009) 2.15
Concordance of antiretinal antibody testing results between laboratories in autoimmune retinopathy. JAMA Ophthalmol (2013) 2.15
SNPselector: a web tool for selecting SNPs for genetic association studies. Bioinformatics (2005) 2.14
Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol (2003) 2.14
GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. Neuron (2013) 2.13