Published in Hum Mol Genet on April 13, 2005
Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet (2005) 4.91
Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. N Engl J Med (2008) 4.46
Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol (2007) 4.27
A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Proc Natl Acad Sci U S A (2007) 3.50
Molecular pathology of age-related macular degeneration. Prog Retin Eye Res (2008) 3.35
Drusen complement components C3a and C5a promote choroidal neovascularization. Proc Natl Acad Sci U S A (2006) 3.25
Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet (2005) 3.19
Age-related macular degeneration--emerging pathogenetic and therapeutic concepts. Ann Med (2006) 2.99
Complement activation by photooxidation products of A2E, a lipofuscin constituent of the retinal pigment epithelium. Proc Natl Acad Sci U S A (2006) 2.45
Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration. Annu Rev Genomics Hum Genet (2009) 2.40
Immunology of age-related macular degeneration. Nat Rev Immunol (2013) 2.14
Imaging outer segment renewal in living human cone photoreceptors. Opt Express (2010) 1.86
Efficient non-viral ocular gene transfer with compacted DNA nanoparticles. PLoS One (2006) 1.71
The oil spill in ageing Bruch membrane. Br J Ophthalmol (2011) 1.62
The age lipid A2E and mitochondrial dysfunction synergistically impair phagocytosis by retinal pigment epithelial cells. J Biol Chem (2008) 1.61
Anti-amyloid therapy protects against retinal pigmented epithelium damage and vision loss in a model of age-related macular degeneration. Proc Natl Acad Sci U S A (2011) 1.56
Toll-like receptors in ocular immunity and the immunopathogenesis of inflammatory eye disease. Br J Ophthalmol (2006) 1.53
Age-related macular degeneration and the immune response: implications for therapy. Am J Ophthalmol (2007) 1.49
Systems-level analysis of age-related macular degeneration reveals global biomarkers and phenotype-specific functional networks. Genome Med (2012) 1.46
The lipofuscin fluorophore A2E perturbs cholesterol metabolism in retinal pigment epithelial cells. Proc Natl Acad Sci U S A (2007) 1.45
Hepcidin expression in mouse retina and its regulation via lipopolysaccharide/Toll-like receptor-4 pathway independent of Hfe. Biochem J (2008) 1.36
Choroideremia: new findings from ocular pathology and review of recent literature. Surv Ophthalmol (2009) 1.34
Common variation in the SERPING1 gene is not associated with age-related macular degeneration in two independent groups of subjects. Mol Vis (2009) 1.26
Age-related macular degeneration: genetic and environmental factors of disease. Mol Interv (2010) 1.24
Photoreceptor proteins initiate microglial activation via Toll-like receptor 4 in retinal degeneration mediated by all-trans-retinal. J Biol Chem (2013) 1.22
Immunological protein expression profile in Ccl2/Cx3cr1 deficient mice with lesions similar to age-related macular degeneration. Exp Eye Res (2008) 1.19
The influence of genetics on response to treatment with ranibizumab (Lucentis) for age-related macular degeneration: the Lucentis Genotype Study (an American Ophthalmological Society thesis). Trans Am Ophthalmol Soc (2011) 1.18
The LOC387715 polymorphism and age-related macular degeneration: replication in three case-control samples. Invest Ophthalmol Vis Sci (2007) 1.17
Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. Hum Mutat (2006) 1.17
Genetics of age-related macular degeneration: current concepts, future directions. Semin Ophthalmol (2011) 1.16
Genetic insights into age-related macular degeneration: controversies addressing risk, causality, and therapeutics. Mol Aspects Med (2012) 1.16
Mechanism of inflammation in age-related macular degeneration. Mediators Inflamm (2012) 1.14
LOC387715/HTRA1 gene polymorphisms and susceptibility to age-related macular degeneration: A HuGE review and meta-analysis. Mol Vis (2010) 1.11
Toll-like receptor 3 is required for development of retinopathy caused by impaired all-trans-retinal clearance in mice. J Biol Chem (2011) 1.08
The HtrA1 promoter polymorphism, smoking, and age-related macular degeneration in multiple case-control samples. Ophthalmology (2008) 1.07
Age- and light-dependent development of localised retinal atrophy in CCL2(-/-)CX3CR1(GFP/GFP) mice. PLoS One (2013) 1.06
Confirmation of TBK1 duplication in normal tension glaucoma. Exp Eye Res (2012) 1.06
Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration. PLoS One (2007) 1.02
Variation in genetic admixture and population structure among Latinos: the Los Angeles Latino eye study (LALES). BMC Genet (2009) 1.01
Progress in defining the molecular biology of age related macular degeneration. Hum Genet (2007) 1.01
Comprehensive analysis of the candidate genes CCL2, CCR2, and TLR4 in age-related macular degeneration. Invest Ophthalmol Vis Sci (2008) 0.98
Novel role for the innate immune receptor Toll-like receptor 4 (TLR4) in the regulation of the Wnt signaling pathway and photoreceptor apoptosis. PLoS One (2012) 0.98
Nutritional modulation of age-related macular degeneration. Mol Aspects Med (2012) 0.97
Convergence of linkage, gene expression and association data demonstrates the influence of the RAR-related orphan receptor alpha (RORA) gene on neovascular AMD: a systems biology based approach. Vision Res (2009) 0.95
Toll-like receptor polymorphisms and age-related macular degeneration: replication in three case-control samples. Invest Ophthalmol Vis Sci (2009) 0.95
The putative role of lutein and zeaxanthin as protective agents against age-related macular degeneration: promise of molecular genetics for guiding mechanistic and translational research in the field. Am J Clin Nutr (2012) 0.95
The complement component 5 gene and age-related macular degeneration. Ophthalmology (2009) 0.92
Vision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease. Prog Retin Eye Res (2015) 0.90
Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics. Hum Genomics (2012) 0.90
Genetic loci that control the size of laser-induced choroidal neovascularization. FASEB J (2009) 0.89
Computational quantification of complex fundus phenotypes in age-related macular degeneration and Stargardt disease. Invest Ophthalmol Vis Sci (2011) 0.87
Nucleoredoxin negatively regulates Toll-like receptor 4 signaling via recruitment of flightless-I to myeloid differentiation primary response gene (88). J Biol Chem (2010) 0.86
Toll-like receptor 4 polymorphisms and their haplotypes modulate the risk of developing diabetic retinopathy in type 2 diabetes patients. Mol Vis (2014) 0.85
Complement factor H gene polymorphisms and Chlamydia pneumoniae infection in age-related macular degeneration. Eye (Lond) (2009) 0.85
Dark matters in AMD genetics: epigenetics and stochasticity. Invest Ophthalmol Vis Sci (2011) 0.84
New era for personalized medicine: the diagnosis and management of age-related macular degeneration. Clin Experiment Ophthalmol (2009) 0.83
Oxidative stress, innate immunity, and age-related macular degeneration. AIMS Mol Sci (2016) 0.83
Update on the role of genetics in the onset of age-related macular degeneration. Clin Ophthalmol (2011) 0.83
Inflammation and Cell Death in Age-Related Macular Degeneration: An Immunopathological and Ultrastructural Model. J Clin Med (2014) 0.82
Update on genetics and diabetic retinopathy. Clin Ophthalmol (2015) 0.81
The proteomics of drusen. Cold Spring Harb Perspect Med (2014) 0.80
Cell culture conditions affect RPE phagocytic function. Graefes Arch Clin Exp Ophthalmol (2006) 0.80
TLR4 mediates human retinal pigment epithelial endotoxin binding and cytokine expression. Trans Am Ophthalmol Soc (2005) 0.80
Gene expression profiling of transporters in the solute carrier and ATP-binding cassette superfamilies in human eye substructures. Mol Pharm (2013) 0.80
Regulation of the cholesterol efflux transporters ABCA1 and ABCG1 in retina in hemochromatosis and by the endogenous siderophore 2,5-dihydroxybenzoic acid. Biochim Biophys Acta (2014) 0.79
Next-generation therapeutic solutions for age-related macular degeneration. Pharm Pat Anal (2012) 0.79
Expression analysis of an evolutionarily conserved alternative splicing factor, Sfrs10, in age-related macular degeneration. PLoS One (2013) 0.78
Epidemiology of age-related macular degeneration (AMD): associations with cardiovascular disease phenotypes and lipid factors. Eye Vis (Lond) (2016) 0.78
[Y402H polymorphism in complement factor H and age-related macula degeneration (AMD)]. Ophthalmologe (2005) 0.77
Senile panretinal cone dysfunction in age-related macular degeneration (AMD): a report of 52 amd patients compared to age-matched controls. Trans Am Ophthalmol Soc (2006) 0.76
The Immune System and AMD. Curr Ophthalmol Rep (2014) 0.76
Macular xanthophylls, lipoprotein-related genes, and age-related macular degeneration. Am J Clin Nutr (2014) 0.76
Loss of melanoregulin (MREG) enhances cathepsin-D secretion by the retinal pigment epithelium. Vis Neurosci (2013) 0.75
Investigation of associations of ARMS2, CD14, and TLR4 gene polymorphisms with wet age-related macular degeneration in a Greek population. Clin Ophthalmol (2017) 0.75
Exploring the cross talk between ER stress and inflammation in age-related macular degeneration. PLoS One (2017) 0.75
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res (2010) 43.51
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science (2007) 43.16
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06
Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet (2008) 30.94
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol (2010) 26.41
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet (2008) 25.83
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
A genome-wide association study of global gene expression. Nat Genet (2007) 22.98
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics (2010) 21.21
Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet (2008) 20.66
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res (2007) 19.07
Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet (2006) 17.36
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Identification of ten loci associated with height highlights new biological pathways in human growth. Nat Genet (2008) 16.25
Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits. PLoS Genet (2007) 14.99
Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature (2007) 14.43
LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics (2010) 13.54
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
A global reference for human genetic variation. Nature (2015) 12.85
Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet (2009) 12.44
Pathway-based approaches for analysis of genomewide association studies. Am J Hum Genet (2007) 12.27
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet (2012) 12.10
Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat Genet (2012) 11.29
Variants in MTNR1B influence fasting glucose levels. Nat Genet (2008) 10.85
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet (2009) 9.45
Meta-analysis and imputation refines the association of 15q25 with smoking quantity. Nat Genet (2010) 8.55
Heritability of cardiovascular and personality traits in 6,148 Sardinians. PLoS Genet (2006) 8.19
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94
Common variants in the GDF5-UQCC region are associated with variation in human height. Nat Genet (2008) 7.31
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One (2008) 7.16
In silico method for inferring genotypes in pedigrees. Nat Genet (2006) 7.08
A first-generation linkage disequilibrium map of human chromosome 22. Nature (2002) 7.03
Analysing biological pathways in genome-wide association studies. Nat Rev Genet (2010) 6.63
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet (2009) 6.31
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet (2012) 6.15
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet (2009) 5.81
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet (2006) 5.36
Low-coverage sequencing: implications for design of complex trait association studies. Genome Res (2011) 5.34
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proc Natl Acad Sci U S A (2008) 5.27
Powerful regression-based quantitative-trait linkage analysis of general pedigrees. Am J Hum Genet (2002) 5.20
PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data. Bioinformatics (2005) 5.14
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. Nat Genet (2010) 4.69
Using haplotype blocks to map human complex trait loci. Trends Genet (2003) 4.61
CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet (2006) 4.51
Pervasive sharing of genetic effects in autoimmune disease. PLoS Genet (2011) 4.42
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
Optimal designs for two-stage genome-wide association studies. Genet Epidemiol (2007) 4.22
Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms. Nucleic Acids Res (2008) 4.22
Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene. Am J Hum Genet (2006) 4.22
Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet (2009) 4.10
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. Arterioscler Thromb Vasc Biol (2010) 4.08
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes (2010) 4.07
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet (2006) 3.90
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Sequence features in regions of weak and strong linkage disequilibrium. Genome Res (2005) 3.74
Genome-wide association study of PR interval. Nat Genet (2010) 3.73
GENOME: a rapid coalescent-based whole genome simulator. Bioinformatics (2007) 3.65
Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability. PLoS Genet (2011) 3.56
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet (2005) 3.55
Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels. J Clin Invest (2008) 3.51
A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Proc Natl Acad Sci U S A (2007) 3.50
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet (2009) 3.42
Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. PLoS Genet (2009) 3.38
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
E2-2 protein and Fuchs's corneal dystrophy. N Engl J Med (2010) 3.31
Gene expression in skin and lymphoblastoid cells: Refined statistical method reveals extensive overlap in cis-eQTL signals. Am J Hum Genet (2010) 3.28
Targeting of GFP to newborn rods by Nrl promoter and temporal expression profiling of flow-sorted photoreceptors. Proc Natl Acad Sci U S A (2006) 3.27
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
High-resolution imaging with adaptive optics in patients with inherited retinal degeneration. Invest Ophthalmol Vis Sci (2007) 3.21
Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet (2005) 3.19
Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease. Am J Hum Genet (2009) 3.19
Design of the Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) Study: A Genome-wide association meta-analysis involving more than 22 000 cases and 60 000 controls. Circ Cardiovasc Genet (2010) 3.15
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. PLoS Genet (2011) 3.07
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