Published in Science on March 10, 2005
A haplotype map of the human genome. Nature (2005) 105.70
Mapping the genetic architecture of gene expression in human liver. PLoS Biol (2008) 19.44
Genetic mapping in human disease. Science (2008) 15.12
Variations in DNA elucidate molecular networks that cause disease. Nature (2008) 12.04
Development of a large-scale de-identified DNA biobank to enable personalized medicine. Clin Pharmacol Ther (2008) 11.67
Complement: a key system for immune surveillance and homeostasis. Nat Immunol (2010) 10.37
Genomewide association studies and human disease. N Engl J Med (2009) 9.05
Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet (2006) 8.33
Analysing biological pathways in genome-wide association studies. Nat Rev Genet (2010) 6.63
Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). Annu Rev Immunol (2009) 5.91
Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet (2005) 4.91
Size matters: just how big is BIG?: Quantifying realistic sample size requirements for human genome epidemiology. Int J Epidemiol (2008) 4.53
CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet (2006) 4.51
Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. N Engl J Med (2008) 4.46
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
Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol (2007) 4.27
Interpretation of genetic association studies: markers with replicated highly significant odds ratios may be poor classifiers. PLoS Genet (2009) 4.22
Oxidative damage-induced inflammation initiates age-related macular degeneration. Nat Med (2008) 3.92
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Proc Natl Acad Sci U S A (2006) 3.80
Recent developments in genomewide association scans: a workshop summary and review. Am J Hum Genet (2005) 3.76
Combining information from common type 2 diabetes risk polymorphisms improves disease prediction. PLoS Med (2006) 3.75
Sequence features in regions of weak and strong linkage disequilibrium. Genome Res (2005) 3.74
The role of inflammation in the pathogenesis of age-related macular degeneration. Surv Ophthalmol (2006) 3.60
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nat Genet (2011) 3.55
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
The pivotal role of the complement system in aging and age-related macular degeneration: hypothesis re-visited. Prog Retin Eye Res (2009) 3.40
CX3CR1-dependent subretinal microglia cell accumulation is associated with cardinal features of age-related macular degeneration. J Clin Invest (2007) 3.39
Molecular pathology of age-related macular degeneration. Prog Retin Eye Res (2008) 3.35
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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
Drusen complement components C3a and C5a promote choroidal neovascularization. Proc Natl Acad Sci U S A (2006) 3.25
A high-resolution map of segmental DNA copy number variation in the mouse genome. PLoS Genet (2006) 3.24
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nat Rev Genet (2010) 3.20
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
IL23R variation determines susceptibility but not disease phenotype in inflammatory bowel disease. Gastroenterology (2007) 2.97
Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease). J Med Genet (2005) 2.92
Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables. Invest Ophthalmol Vis Sci (2008) 2.91
Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. Am J Hum Genet (2006) 2.89
Neisseria meningitidis recruits factor H using protein mimicry of host carbohydrates. Nature (2009) 2.81
Vascular endothelial growth factor in eye disease. Prog Retin Eye Res (2008) 2.73
Efficient study designs for test of genetic association using sibship data and unrelated cases and controls. Am J Hum Genet (2006) 2.72
Smoking and age related macular degeneration: the number of pack years of cigarette smoking is a major determinant of risk for both geographic atrophy and choroidal neovascularisation. Br J Ophthalmol (2006) 2.67
Association analysis of the FTO gene with obesity in children of Caucasian and African ancestry reveals a common tagging SNP. PLoS One (2008) 2.67
Complement factor H binds malondialdehyde epitopes and protects from oxidative stress. Nature (2011) 2.64
The genetics of schizophrenia. PLoS Med (2005) 2.56
A high-density screen for linkage in multiple sclerosis. Am J Hum Genet (2005) 2.50
Chapter 11: Genome-wide association studies. PLoS Comput Biol (2012) 2.46
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
Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. Gastroenterology (2010) 2.45
Drusen, choroidal neovascularization, and retinal pigment epithelium dysfunction in SOD1-deficient mice: a model of age-related macular degeneration. Proc Natl Acad Sci U S A (2006) 2.40
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
Moving toward a system genetics view of disease. Mamm Genome (2007) 2.38
Understanding age-related macular degeneration (AMD): relationships between the photoreceptor/retinal pigment epithelium/Bruch's membrane/choriocapillaris complex. Mol Aspects Med (2012) 2.37
A forest-based approach to identifying gene and gene gene interactions. Proc Natl Acad Sci U S A (2007) 2.36
Murine ccl2/cx3cr1 deficiency results in retinal lesions mimicking human age-related macular degeneration. Invest Ophthalmol Vis Sci (2007) 2.36
Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H. Clin Exp Immunol (2008) 2.19
Macrophages inhibit neovascularization in a murine model of age-related macular degeneration. PLoS Med (2006) 2.18
Systemic complement activation in age-related macular degeneration. PLoS One (2008) 2.18
Immunology of age-related macular degeneration. Nat Rev Immunol (2013) 2.14
Atypical haemolytic uraemic syndrome associated with a hybrid complement gene. PLoS Med (2006) 2.07
Molecular genetic testing and the future of clinical genomics. Nat Rev Genet (2013) 2.03
The bisretinoids of retinal pigment epithelium. Prog Retin Eye Res (2011) 2.02
Structural basis for complement factor H linked age-related macular degeneration. J Exp Med (2007) 2.02
CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD. PLoS Med (2005) 2.01
Y402H polymorphism of complement factor H affects binding affinity to C-reactive protein. J Immunol (2007) 2.00
Synthetic associations are unlikely to account for many common disease genome-wide association signals. PLoS Biol (2011) 2.00
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. Hum Mol Genet (2011) 1.98
Neurotrophins enhance retinal pigment epithelial cell survival through neuroprotectin D1 signaling. Proc Natl Acad Sci U S A (2007) 1.96
Pharmacogenomics: challenges and opportunities. Ann Intern Med (2006) 1.96
An update on the genetics of age-related macular degeneration. Mol Vis (2007) 1.95
Apolipoprotein E allele-dependent pathogenesis: a model for age-related retinal degeneration. Proc Natl Acad Sci U S A (2005) 1.92
Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study. Lancet Neurol (2006) 1.92
Translational mini-review series on complement factor H: renal diseases associated with complement factor H: novel insights from humans and animals. Clin Exp Immunol (2008) 1.89
Docosahexaenoic acid signalolipidomics in nutrition: significance in aging, neuroinflammation, macular degeneration, Alzheimer's, and other neurodegenerative diseases. Annu Rev Nutr (2011) 1.88
Prevention of C5 activation ameliorates spontaneous and experimental glomerulonephritis in factor H-deficient mice. Proc Natl Acad Sci U S A (2006) 1.87
The retinal pigment epithelium in health and disease. Curr Mol Med (2010) 1.87
Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes. Invest Ophthalmol Vis Sci (2009) 1.86
MicroRNA-204/211 alters epithelial physiology. FASEB J (2010) 1.83
Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration. PLoS Genet (2010) 1.83
Smoking, dietary betaine, methionine, and vitamin D in monozygotic twins with discordant macular degeneration: epigenetic implications. Ophthalmology (2011) 1.81
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases. Orphanet J Rare Dis (2012) 1.79
Extreme retinal remodeling triggered by light damage: implications for age related macular degeneration. Mol Vis (2008) 1.77
Towards a complete resolution of the genetic architecture of disease. Trends Genet (2010) 1.75
Efficient non-viral ocular gene transfer with compacted DNA nanoparticles. PLoS One (2006) 1.71
Genetic determinants of human health span and life span: progress and new opportunities. PLoS Genet (2007) 1.70
Amyloid-beta deposits lead to retinal degeneration in a mouse model of Alzheimer disease. Invest Ophthalmol Vis Sci (2008) 1.70
Age-related macular degeneration: genetics and biology coming together. Annu Rev Genomics Hum Genet (2014) 1.69
Phospholipid meets all-trans-retinal: the making of RPE bisretinoids. J Lipid Res (2009) 1.69
Complement control protein factor H: the good, the bad, and the inadequate. Mol Immunol (2010) 1.68
Examining the relative influence of familial, genetic, and environmental covariate information in flexible risk models. Proc Natl Acad Sci U S A (2009) 1.68
Therapeutic targets in age-related macular disease. J Clin Invest (2010) 1.68
Immunopathological aspects of age-related macular degeneration. Semin Immunopathol (2008) 1.63
Individuals homozygous for the age-related macular degeneration risk-conferring variant of complement factor H have elevated levels of CRP in the choroid. Proc Natl Acad Sci U S A (2006) 1.63
Prospective assessment of genetic effects on progression to different stages of age-related macular degeneration using multistate Markov models. Invest Ophthalmol Vis Sci (2012) 1.63
Complement factor H deficiency in aged mice causes retinal abnormalities and visual dysfunction. Proc Natl Acad Sci U S A (2007) 1.62
Risk models for progression to advanced age-related macular degeneration using demographic, environmental, genetic, and ocular factors. Ophthalmology (2011) 1.61
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
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
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
Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy. Nat Med (2002) 5.07
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
Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. Nat Genet (2010) 4.47
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
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet (2012) 4.27
Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. Ann Hum Genet (2010) 4.26
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Prevention and treatment of common eye injuries in sports. Am Fam Physician (2003) 3.63
Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. Am J Hum Genet (2009) 3.54
PGC-1α, a potential therapeutic target for early intervention in Parkinson's disease. Sci Transl Med (2010) 3.48
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
The pivotal role of the complement system in aging and age-related macular degeneration: hypothesis re-visited. Prog Retin Eye Res (2009) 3.40
Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet (2003) 3.39
Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein. Am J Hum Genet (2008) 3.27
Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis. Hum Mol Genet (2006) 3.13
Molecular markers of early Parkinson's disease based on gene expression in blood. Proc Natl Acad Sci U S A (2007) 3.03
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet (2002) 2.98
Acute zonal occult outer retinopathy: a long-term follow-up study. Am J Ophthalmol (2002) 2.92
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
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
Human neural tube defects: developmental biology, epidemiology, and genetics. Neurotoxicol Teratol (2005) 2.62
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism. BMC Med (2009) 2.60
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
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
A high-density screen for linkage in multiple sclerosis. Am J Hum Genet (2005) 2.50
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
Hepatic gene expression profiles differentiate presymptomatic patients with mild versus severe nonalcoholic fatty liver disease. Hepatology (2013) 2.42
The role of the CD58 locus in multiple sclerosis. Proc Natl Acad Sci U S A (2009) 2.38
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
Genome-wide gene-environment study identifies glutamate receptor gene GRIN2A as a Parkinson's disease modifier gene via interaction with coffee. PLoS Genet (2011) 2.28
Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants. PLoS Genet (2012) 2.23
A new class of homoserine lactone quorum-sensing signals. Nature (2008) 2.20
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. Ann Neurol (2012) 2.20
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Ann Hum Genet (2009) 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
Generalization and dilution of association results from European GWAS in populations of non-European ancestry: the PAGE study. PLoS Biol (2013) 2.08
Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology (2012) 2.08
Development of the WHOQOL-old module. Qual Life Res (2005) 2.05
SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer's disease risk. Ann Neurol (2011) 2.01
Parkin mutations and susceptibility alleles in late-onset Parkinson's disease. Ann Neurol (2003) 2.01
Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet (2006) 2.00