Published in Am J Hum Genet on February 16, 2004
Complement factor H polymorphism in age-related macular degeneration. Science (2005) 31.10
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci U S A (2005) 13.44
Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet (2005) 4.91
CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet (2006) 4.51
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 role of inflammation in the pathogenesis of age-related macular degeneration. Surv Ophthalmol (2006) 3.60
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
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
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
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
CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD. PLoS Med (2005) 2.01
An update on the genetics of age-related macular degeneration. Mol Vis (2007) 1.95
Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26. Am J Hum Genet (2005) 1.76
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nat Genet (2015) 1.55
Multilocus lod scores in large pedigrees: combination of exact and approximate calculations. Hum Hered (2007) 1.46
The aged retinal pigment epithelium/choroid: a potential substratum for the pathogenesis of age-related macular degeneration. PLoS One (2008) 1.44
HTRA1 variants in exudative age-related macular degeneration and interactions with smoking and CFH. Invest Ophthalmol Vis Sci (2008) 1.28
Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking. PLoS Med (2007) 1.27
Genetics of age-related macular degeneration: current concepts, future directions. Semin Ophthalmol (2011) 1.16
Genetics. Was the Human Genome Project worth the effort? Science (2005) 1.16
Genetic insights into age-related macular degeneration: controversies addressing risk, causality, and therapeutics. Mol Aspects Med (2012) 1.16
Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population. J Ocul Biol Dis Infor (2009) 1.13
Genetics of immunological and inflammatory components in age-related macular degeneration. Ocul Immunol Inflamm (2012) 1.04
Progress in defining the molecular biology of age related macular degeneration. Hum Genet (2007) 1.01
Age-related macular degeneration-clinical review and genetics update. Clin Genet (2013) 1.00
Consistently replicating locus linked to migraine on 10q22-q23. Am J Hum Genet (2008) 0.99
Age-related macular degeneration: genome-wide association studies to translation. Genet Med (2015) 0.96
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
Genome-wide association analyses of genetic, phenotypic, and environmental risks in the age-related eye disease study. Mol Vis (2010) 0.91
Genetic and functional dissection of ARMS2 in age-related macular degeneration and polypoidal choroidal vasculopathy. PLoS One (2013) 0.90
Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment. Eur J Clin Pharmacol (2008) 0.86
The impact of the human genome project on complex disease. Genes (Basel) (2014) 0.85
Age-related macular degeneration. Ulster Med J (2005) 0.84
Genetic networks in the mouse retina: growth associated protein 43 and phosphatase tensin homolog network. Mol Vis (2011) 0.84
Incorporating prior knowledge to facilitate discoveries in a genome-wide association study on age-related macular degeneration. BMC Res Notes (2010) 0.83
Analysis of Hemicentin-1, hOgg1, and E-selectin single nucleotide polymorphisms in age-related macular degeneration. Trans Am Ophthalmol Soc (2005) 0.83
Genome-wide linkage scan for maximum and length-dependent knee muscle strength in young men: significant evidence for linkage at chromosome 14q24.3. J Med Genet (2008) 0.82
Genome-wide linkage scan for contraction velocity characteristics of knee musculature in the Leuven Genes for Muscular Strength Study. Physiol Genomics (2008) 0.81
Genetic association study of mitochondrial polymorphisms in neovascular age-related macular degeneration. Mol Vis (2013) 0.80
Retinal vascular leakage occurring in GABA Rho-1 subunit deficient mice. Exp Eye Res (2010) 0.80
[Y402H polymorphism in complement factor H and age-related macula degeneration (AMD)]. Ophthalmologe (2005) 0.77
MetaNetVar: Pipeline for applying network analysis tools for genomic variants analysis. F1000Res (2016) 0.76
Genome-wide association studies: getting to pathogenesis, the role of inflammation/complement in age-related macular degeneration. Cold Spring Harb Perspect Med (2014) 0.76
The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment. Mol Immunol (2016) 0.75
Prognostic phenotypic and genotypic factors associated with photodynamic therapy response in patients with age-related macular degeneration. Clin Ophthalmol (2014) 0.75
A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res (1988) 77.80
Merlin--rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet (2001) 53.16
Allele-sharing models: LOD scores and accurate linkage tests. Am J Hum Genet (1997) 13.93
Prevalence of age-related maculopathy. The Beaver Dam Eye Study. Ophthalmology (1992) 10.88
A class of tests for linkage using affected pedigree members. Biometrics (1994) 10.40
An international classification and grading system for age-related maculopathy and age-related macular degeneration. The International ARM Epidemiological Study Group. Surv Ophthalmol (1995) 10.05
Linkage strategies for genetically complex traits. II. The power of affected relative pairs. Am J Hum Genet (1990) 9.48
An integrated hypothesis that considers drusen as biomarkers of immune-mediated processes at the RPE-Bruch's membrane interface in aging and age-related macular degeneration. Prog Retin Eye Res (2001) 8.38
The five-year incidence and progression of age-related maculopathy: the Beaver Dam Eye Study. Ophthalmology (1997) 6.47
Drusen proteome analysis: an approach to the etiology of age-related macular degeneration. Proc Natl Acad Sci U S A (2002) 6.47
GRR: graphical representation of relationship errors. Bioinformatics (2001) 6.09
Age-related macular degeneration: etiology, pathogenesis, and therapeutic strategies. Surv Ophthalmol (2003) 5.22
The prevalence of age-related maculopathy in the Rotterdam Study. Ophthalmology (1995) 5.08
Risk factors for age-related macular degeneration: Pooled findings from three continents. Ophthalmology (2001) 5.06
Improved inference of relationship for pairs of individuals. Am J Hum Genet (2000) 4.47
Age-related macular degeneration. Surv Ophthalmol (1988) 4.18
A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions. Am J Hum Genet (2003) 3.23
Genetics and the specificity of the aging process. Science (2003) 3.20
Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat Genet (1994) 3.11
Age-related macular degeneration--a genome scan in extended families. Am J Hum Genet (2003) 2.99
Familial aggregation of age-related maculopathy. Am J Ophthalmol (1997) 2.77
The Alzheimer's A beta -peptide is deposited at sites of complement activation in pathologic deposits associated with aging and age-related macular degeneration. Proc Natl Acad Sci U S A (2002) 2.74
Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family. Hum Mol Genet (2003) 2.72
Oxidative damage and protection of the RPE. Prog Retin Eye Res (2000) 2.65
Genetic risk of age-related maculopathy. Population-based familial aggregation study. Arch Ophthalmol (1998) 2.31
Histopathology of age-related macular degeneration. Mol Vis (1999) 2.27
Risk factors for age-related macular degeneration. Prog Retin Eye Res (2001) 2.22
Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. Arch Ophthalmol (1998) 2.19
Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. Am J Hum Genet (2000) 2.14
The impact of genotyping error on family-based analysis of quantitative traits. Eur J Hum Genet (2001) 2.12
A full genome scan for age-related maculopathy. Hum Mol Genet (2000) 1.96
Age-related maculopathy: an expanded genome-wide scan with evidence of susceptibility loci within the 1q31 and 17q25 regions. Am J Ophthalmol (2001) 1.88
Apolipoprotein B in cholesterol-containing drusen and basal deposits of human eyes with age-related maculopathy. Am J Pathol (2003) 1.85
Risk factors of age-related maculopathy in a population 70 years of age or older. Ophthalmology (1996) 1.61
Molecular genetics of age-related macular degeneration. Hum Mol Genet (2001) 1.55
A whole-genome screen of a quantitative trait of age-related maculopathy in sibships from the Beaver Dam Eye Study. Am J Hum Genet (2003) 1.53
Linkage thresholds for two-stage genome scans. Am J Hum Genet (1998) 1.51
A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy. Ophthalmic Genet (2002) 1.49
Microarray analysis of gene expression in the aging human retina. Invest Ophthalmol Vis Sci (2002) 1.38
The Bowman lecture. Towards an understanding of age-related macular disease. Eye (Lond) (2003) 1.31
A survey of affected-sibship statistics for nonparametric linkage analysis. Am J Hum Genet (2001) 1.30
The genetics of age-related macular degeneration. Mol Vis (1999) 1.09
The map problem: a comparison of genetic and sequence-based physical maps. Am J Hum Genet (2001) 0.96
Multipoint and single point non-parametric linkage analysis with imperfect data. Am J Med Genet B Neuropsychiatr Genet (2003) 0.93
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature (2008) 38.13
Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum Gene Ther (2008) 8.83
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
A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science (2006) 5.67
Natural variation in Ghd7 is an important regulator of heading date and yield potential in rice. Nat Genet (2008) 5.64
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet (2006) 5.36
BES1 accumulates in the nucleus in response to brassinosteroids to regulate gene expression and promote stem elongation. Cell (2002) 4.99
Nuclear-localized BZR1 mediates brassinosteroid-induced growth and feedback suppression of brassinosteroid biosynthesis. Dev Cell (2002) 4.83
Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness. Mol Ther (2005) 4.74
CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet (2006) 4.51
Binding of brassinosteroids to the extracellular domain of plant receptor kinase BRI1. Nature (2005) 4.32
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
Acquired copy number alterations in adult acute myeloid leukemia genomes. Proc Natl Acad Sci U S A (2009) 4.17
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
Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia. Blood (2008) 3.89
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
The AtGenExpress hormone and chemical treatment data set: experimental design, data evaluation, model data analysis and data access. Plant J (2008) 3.73
Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia. Blood (2007) 3.73
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet (2005) 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
Identification and functional analysis of in vivo phosphorylation sites of the Arabidopsis BRASSINOSTEROID-INSENSITIVE1 receptor kinase. Plant Cell (2005) 3.48
A new class of transcription factors mediates brassinosteroid-regulated gene expression in Arabidopsis. Cell (2005) 3.42
Rare-variant association analysis: study designs and statistical tests. Am J Hum Genet (2014) 3.42
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Identification of cold-inducible downstream genes of the Arabidopsis DREB1A/CBF3 transcriptional factor using two microarray systems. Plant J (2004) 3.31
E2-2 protein and Fuchs's corneal dystrophy. N Engl J Med (2010) 3.31
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
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
Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year. Hum Gene Ther (2009) 3.07
Microarray analysis of brassinosteroid-regulated genes in Arabidopsis. Plant Physiol (2002) 3.04
BAK1 and BKK1 regulate brassinosteroid-dependent growth and brassinosteroid-independent cell-death pathways. Curr Biol (2007) 2.97
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet (2002) 2.94
Erect leaves caused by brassinosteroid deficiency increase biomass production and grain yield in rice. Nat Biotechnol (2005) 2.89
Impact of combination antiretroviral therapy on cerebrospinal fluid HIV RNA and neurocognitive performance. AIDS (2009) 2.88
Comprehensive comparison of auxin-regulated and brassinosteroid-regulated genes in Arabidopsis. Plant Physiol (2004) 2.79
Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis. Invest Ophthalmol Vis Sci (2004) 2.72
Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement. Proc Natl Acad Sci U S A (2013) 2.71
A rice brassinosteroid-deficient mutant, ebisu dwarf (d2), is caused by a loss of function of a new member of cytochrome P450. Plant Cell (2003) 2.58
Using case vignettes to measure HIV-related stigma among health professionals in China. Int J Epidemiol (2006) 2.57
Vision 1 year after gene therapy for Leber's congenital amaurosis. N Engl J Med (2009) 2.57
In utero gene therapy rescues vision in a murine model of congenital blindness. Mol Ther (2004) 2.56
Cone-like morphological, molecular, and electrophysiological features of the photoreceptors of the Nrl knockout mouse. Invest Ophthalmol Vis Sci (2005) 2.51
C. elegans screen identifies autophagy genes specific to multicellular organisms. Cell (2010) 2.50
Autoregulation and homodimerization are involved in the activation of the plant steroid receptor BRI1. Dev Cell (2005) 2.48
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37
SEPA-1 mediates the specific recognition and degradation of P granule components by autophagy in C. elegans. Cell (2009) 2.35
CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease. Dev Cell (2008) 2.35
Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet (2005) 2.34
Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration. Hum Mol Genet (2005) 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
A novel cytochrome P450 is implicated in brassinosteroid biosynthesis via the characterization of a rice dwarf mutant, dwarf11, with reduced seed length. Plant Cell (2005) 2.30
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet (2002) 2.29
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. J Clin Invest (2008) 2.24
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Am J Hum Genet (2005) 2.20
Two-dimensional boron monolayer sheets. ACS Nano (2012) 2.15
Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors. Hum Mol Genet (2004) 2.14
Loss-of-function of a rice brassinosteroid biosynthetic enzyme, C-6 oxidase, prevents the organized arrangement and polar elongation of cells in the leaves and stem. Plant J (2002) 2.14
Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa. Proc Natl Acad Sci U S A (2012) 2.12
Chronic retinal necrosis: cytomegalovirus necrotizing retinitis associated with panretinal vasculopathy in non-HIV patients. Retina (2013) 2.12
Antagonistic interaction between systemic acquired resistance and the abscisic acid-mediated abiotic stress response in Arabidopsis. Plant Cell (2008) 2.10
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet (2002) 2.10
Histopathology of documented growth in small melanocytic choroidal tumors. Arch Ophthalmol (2004) 2.09
Expression profiling of the developing and mature Nrl-/- mouse retina: identification of retinal disease candidates and transcriptional regulatory targets of Nrl. Hum Mol Genet (2004) 2.07
Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration. Proc Natl Acad Sci U S A (2003) 2.07
Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations. Invest Ophthalmol Vis Sci (2008) 2.05
Exploration and synthesis of curcumin analogues with improved structural stability both in vitro and in vivo as cytotoxic agents. Bioorg Med Chem (2008) 2.03
How to make the best use of intraoperative motor evoked potential monitoring? Experience in 1162 consecutive spinal deformity surgical procedures. Spine (Phila Pa 1976) (2014) 2.02
CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD. PLoS Med (2005) 2.01
Highly Z-selective metathesis homocoupling of terminal olefins. J Am Chem Soc (2009) 2.01
Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. PLoS Genet (2012) 2.00
Photoreceptors of Nrl -/- mice coexpress functional S- and M-cone opsins having distinct inactivation mechanisms. J Gen Physiol (2005) 1.99
Brassinosteroid functions in a broad range of disease resistance in tobacco and rice. Plant J (2003) 1.99
Longitudinal results of intratympanic injection of budesonide for otitis media with effusion in children over 12 years and adults. Otol Neurotol (2014) 1.96
Organ-specific expression of brassinosteroid-biosynthetic genes and distribution of endogenous brassinosteroids in Arabidopsis. Plant Physiol (2003) 1.95
Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures. Exp Eye Res (2005) 1.94
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2009) 1.93
Central role of Ifh1p-Fhl1p interaction in the synthesis of yeast ribosomal proteins. EMBO J (2005) 1.92
SARA-regulated vesicular targeting underlies formation of the light-sensing organelle in mammalian rods. Cell (2007) 1.91