Published in Bioinformatics on September 22, 2005
Next generation tools for the annotation of human SNPs. Brief Bioinform (2009) 6.61
A common MUC5B promoter polymorphism and pulmonary fibrosis. N Engl J Med (2011) 6.40
FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization. Nucleic Acids Res (2006) 5.60
Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. Am J Hum Genet (2006) 2.89
GWASdb: a database for human genetic variants identified by genome-wide association studies. Nucleic Acids Res (2011) 1.87
Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease. Am J Hum Genet (2007) 1.55
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The novel genetic variant predisposing to coronary artery disease in the region of the PSRC1 and CELSR2 genes on chromosome 1 associates with serum cholesterol. J Mol Med (Berl) (2008) 1.35
GATA2 is associated with familial early-onset coronary artery disease. PLoS Genet (2006) 1.32
Genomic convergence to identify candidate genes for Alzheimer disease on chromosome 10. Hum Mutat (2009) 1.21
Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in case-control and family datasets. Hum Mol Genet (2008) 1.21
Neuropeptide Y gene polymorphisms confer risk of early-onset atherosclerosis. PLoS Genet (2009) 1.20
SNP-RFLPing: restriction enzyme mining for SNPs in genomes. BMC Genomics (2006) 1.10
Linkage and association study of late-onset Alzheimer disease families linked to 9p21.3. Ann Hum Genet (2008) 1.09
Hepatocyte growth factor and myopia: genetic association analyses in a Caucasian population. Mol Vis (2009) 1.05
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Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosis. Hum Genet (2009) 1.04
COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. Invest Ophthalmol Vis Sci (2009) 1.01
Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort. Invest Ophthalmol Vis Sci (2010) 1.00
Polymorphisms of the tumor suppressor gene LSAMP are associated with left main coronary artery disease. Ann Hum Genet (2008) 0.94
The Environmental Polymorphism Registry: a unique resource that facilitates translational research of environmental disease. Environ Health Perspect (2011) 0.92
SNPranker 2.0: a gene-centric data mining tool for diseases associated SNP prioritization in GWAS. BMC Bioinformatics (2013) 0.90
Information-theoretic identification of predictive SNPs and supervised visualization of genome-wide association studies. Nucleic Acids Res (2006) 0.90
QuickSNP: an automated web server for selection of tagSNPs. Nucleic Acids Res (2007) 0.89
SNP-RFLPing 2: an updated and integrated PCR-RFLP tool for SNP genotyping. BMC Bioinformatics (2010) 0.87
Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia. Mol Vis (2008) 0.86
Comprehensive analysis of LAMC1 genetic variants in advanced pelvic organ prolapse. Am J Obstet Gynecol (2012) 0.86
Comprehensive fine mapping of chr12q12-14 and follow-up replication identify activin receptor 1B (ACVR1B) as a muscle strength gene. Eur J Hum Genet (2010) 0.84
Matrix metalloproteinase-9 genetic polymorphisms and the risk for advanced pelvic organ prolapse. Obstet Gynecol (2012) 0.83
V-MitoSNP: visualization of human mitochondrial SNPs. BMC Bioinformatics (2006) 0.82
Identification and prioritization of NUAK1 and PPP1CC as positional candidate loci for skeletal muscle strength phenotypes. Physiol Genomics (2011) 0.81
Multi-locus stepwise regression: a haplotype-based algorithm for finding genetic associations applied to atopic dermatitis. BMC Med Genet (2012) 0.80
Evaluating the accuracy of a functional SNP annotation system. BMC Bioinformatics (2009) 0.79
The genetic effects of the dopamine D1 receptor gene on chicken egg production and broodiness traits. BMC Genet (2010) 0.77
Selecting SNPs to identify ancestry. Ann Hum Genet (2011) 0.76
A novel method combining linkage disequilibrium information and imputed functional knowledge for tagSNP selection. Hum Hered (2007) 0.75
Computational analysis of functional single nucleotide polymorphisms associated with the CYP11B2 gene. PLoS One (2014) 0.75
Genomics software: The view from 10,000 feet. Hum Genomics (2009) 0.75
Two novel genetic variants in the mineralocorticoid receptor gene associated with spontaneous preterm birth. BMC Med Genet (2015) 0.75
The UCSC Genome Browser Database. Nucleic Acids Res (2003) 32.84
Aligning multiple genomic sequences with the threaded blockset aligner. Genome Res (2004) 24.52
Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet (2003) 21.52
Whole-genome patterns of common DNA variation in three human populations. Science (2005) 21.22
An overview of Ensembl. Genome Res (2004) 10.35
Y chromosome sequence variation and the history of human populations. Nat Genet (2000) 8.34
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SNPper: retrieval and analysis of human SNPs. Bioinformatics (2002) 3.30
LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources. Bioinformatics (2005) 3.05
Hierarchical patterns of global human Y-chromosome diversity. Mol Biol Evol (2001) 3.04
Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease. JAMA (2001) 2.36
Gene expression phenotypes of atherosclerosis. Arterioscler Thromb Vasc Biol (2004) 2.23
Pharmacogenetics goes genomic. Nat Rev Genet (2003) 2.00
PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level. Nucleic Acids Res (2004) 1.74
PromoLign: a database for upstream region analysis and SNPs. Hum Mutat (2004) 1.15
Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma. Clin Genet (2001) 1.07
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
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
The deacetylase HDAC6 regulates aggresome formation and cell viability in response to misfolded protein stress. Cell (2003) 7.71
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
The DNA sequence of the human X chromosome. Nature (2005) 6.97
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
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
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
dSarm/Sarm1 is required for activation of an injury-induced axon death pathway. Science (2012) 3.72
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet (2003) 3.55
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
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
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain (2006) 2.77
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
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
A large set of Finnish affected sibling pair families with type 2 diabetes suggests susceptibility loci on chromosomes 6, 11, and 14. Diabetes (2004) 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
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Am J Hum Genet (2011) 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
Association of a peripheral blood metabolic profile with coronary artery disease and risk of subsequent cardiovascular events. Circ Cardiovasc Genet (2010) 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
GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis. Hum Mutat (2013) 2.23
Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants. PLoS Genet (2012) 2.23
High heritability of metabolomic profiles in families burdened with premature cardiovascular disease. Mol Syst Biol (2009) 2.21
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
Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol (2003) 2.14
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. Am J Hum Genet (2009) 2.14
GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. Neuron (2013) 2.13
Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Ann Neurol (2011) 2.09
Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology (2012) 2.08
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
Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. PLoS Genet (2012) 2.00
A second major histocompatibility complex susceptibility locus for multiple sclerosis. Ann Neurol (2007) 1.99
Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease. Hum Mol Genet (2003) 1.98
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol (2006) 1.98
Comprehensive search for Alzheimer disease susceptibility loci in the APOE region. Arch Neurol (2012) 1.97