Published in Genome Res on November 01, 2005
A new approach for using genome scans to detect recent positive selection in the human genome. PLoS Biol (2007) 3.71
Hunter-gatherer genomic diversity suggests a southern African origin for modern humans. Proc Natl Acad Sci U S A (2011) 3.53
Worldwide population differentiation at disease-associated SNPs. BMC Med Genomics (2008) 2.32
More genes underwent positive selection in chimpanzee evolution than in human evolution. Proc Natl Acad Sci U S A (2007) 2.00
Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome. Genomics (2006) 1.46
Haplotype block structure is conserved across mammals. PLoS Genet (2006) 1.13
Variation in estimated recombination rates across human populations. Hum Genet (2007) 1.09
Recombinational landscape of porcine X chromosome and individual variation in female meiotic recombination associated with haplotypes of Chinese pigs. BMC Genomics (2010) 0.96
Contrasting methods of quantifying fine structure of human recombination. Annu Rev Genomics Hum Genet (2010) 0.95
The synaptonemal complex and meiotic recombination in humans: new approaches to old questions. Chromosoma (2006) 0.92
Genetic crossovers are predicted accurately by the computed human recombination map. PLoS Genet (2010) 0.90
Fraction of informative recombinations: a heuristic approach to analyze recombination rates. Genetics (2008) 0.81
The 8p23 inversion polymorphism determines local recombination heterogeneity across human populations. Genome Biol Evol (2014) 0.81
High-density interspecific genetic maps of kiwifruit and the identification of sex-specific markers. DNA Res (2015) 0.81
Combining sperm typing and linkage disequilibrium analyses reveals differences in selective pressures or recombination rates across human populations. Genetics (2006) 0.80
Similarity in recombination rate estimates highly correlates with genetic differentiation in humans. PLoS One (2011) 0.80
Variation in patterns of human meiotic recombination. Genome Dyn (2009) 0.80
A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review. Mol Cytogenet (2014) 0.78
Evolution of heterogeneous genome differentiation across multiple contact zones in a crow species complex. Nat Commun (2016) 0.77
Distribution of recombination hotspots in the human genome--a comparison of computer simulations with real data. PLoS One (2013) 0.76
Initial sequencing and analysis of the human genome. Nature (2001) 212.86
The International HapMap Project. Nature (2003) 73.65
A high-resolution recombination map of the human genome. Nat Genet (2002) 28.66
Whole-genome patterns of common DNA variation in three human populations. Science (2005) 21.22
Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet (1998) 19.35
The fine-scale structure of recombination rate variation in the human genome. Science (2004) 17.05
Linkage disequilibrium in humans: models and data. Am J Hum Genet (2001) 14.97
Comparison of fine-scale recombination rates in humans and chimpanzees. Science (2005) 7.86
Two-locus sampling distributions and their application. Genetics (2001) 7.42
Population history and natural selection shape patterns of genetic variation in 132 genes. PLoS Biol (2004) 7.11
Evidence for substantial fine-scale variation in recombination rates across the human genome. Nat Genet (2004) 6.99
Fine-scale recombination patterns differ between chimpanzees and humans. Nat Genet (2005) 5.00
Genetic perspectives on human origins and differentiation. Annu Rev Genomics Hum Genet (2000) 4.01
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet (2001) 3.57
Testing models of selection and demography in Drosophila simulans. Genetics (2002) 3.37
Human recombination hot spots hidden in regions of strong marker association. Nat Genet (2005) 3.33
Recombination rate and reproductive success in humans. Nat Genet (2004) 2.52
Absence of the TAP2 human recombination hotspot in chimpanzees. PLoS Biol (2004) 2.22
Comparative linkage-disequilibrium analysis of the beta-globin hotspot in primates. Am J Hum Genet (2003) 1.89
Detecting bottlenecks and selective sweeps from DNA sequence polymorphism. Genetics (2000) 1.85
Further studies on bivalent chiasma frequency in human males with normal karyotypes. Ann Hum Genet (1985) 1.78
A comparison of linkage disequilibrium patterns and estimated population recombination rates across multiple populations. Am J Hum Genet (2005) 1.75
Variation in human meiotic recombination. Annu Rev Genomics Hum Genet (2004) 1.70
A genetic linkage map of the baboon (Papio hamadryas) genome based on human microsatellite polymorphisms. Genomics (2000) 1.66
Ethnicity and human genetic linkage maps. Am J Hum Genet (2004) 1.50
Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23. Genomics (2003) 1.38
Insights into recombination from patterns of linkage disequilibrium in humans. Genetics (2004) 1.29
Individual variation in recombination among human males. Am J Hum Genet (1996) 1.22
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature (2007) 35.08
International network of cancer genome projects. Nature (2010) 20.35
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
A predominantly clonal multi-institutional outbreak of Clostridium difficile-associated diarrhea with high morbidity and mortality. N Engl J Med (2005) 16.59
Prepublication data sharing. Nature (2009) 12.24
Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. Nat Genet (2007) 9.88
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature (2012) 8.31
Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet (2008) 6.97
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci U S A (2003) 6.87
Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet (2008) 6.75
Genome-wide analysis of transcript isoform variation in humans. Nat Genet (2008) 6.70
Statistical practice in high-throughput screening data analysis. Nat Biotechnol (2006) 5.85
A survey of genetic and epigenetic variation affecting human gene expression. Physiol Genomics (2004) 4.99
Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray. Epigenetics (2013) 4.61
Control genes and variability: absence of ubiquitous reference transcripts in diverse mammalian expression studies. Genome Res (2002) 4.49
Cis-acting regulatory variation in the human genome. Science (2004) 4.47
Characterization of a common susceptibility locus for asthma-related traits. Science (2004) 4.05
Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression. PLoS Genet (2008) 3.92
Mapping common regulatory variants to human haplotypes. Hum Mol Genet (2005) 3.53
Characterization of variability in large-scale gene expression data: implications for study design. Genomics (2002) 3.42
Susceptibility to leprosy is associated with PARK2 and PACRG. Nature (2004) 3.07
Germ-line DNA copy number variation frequencies in a large North American population. Hum Genet (2007) 2.94
Heritability of alternative splicing in the human genome. Genome Res (2007) 2.76
Common variants in the NLRP3 region contribute to Crohn's disease susceptibility. Nat Genet (2008) 2.67
Survey of allelic expression using EST mining. Genome Res (2005) 2.67
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. Gastroenterology (2012) 2.57
Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. Diabetes (2004) 2.52
mTORC1 promotes survival through translational control of Mcl-1. Proc Natl Acad Sci U S A (2008) 2.50
Quality, quantity and harmony: the DataSHaPER approach to integrating data across bioclinical studies. Int J Epidemiol (2010) 2.44
Functional normalization of 450k methylation array data improves replication in large cancer studies. Genome Biol (2014) 2.37
Meta-analysis of new genome-wide association studies of colorectal cancer risk. Hum Genet (2011) 2.35
A survey of genes differentially expressed in subcutaneous and visceral adipose tissue in men. Obes Res (2004) 2.33
Inferential literacy for experimental high-throughput biology. Trends Genet (2005) 2.30
Influence of human genome polymorphism on gene expression. Hum Mol Genet (2006) 2.14
Association of vitamin D receptor genetic variants with susceptibility to asthma and atopy. Am J Respir Crit Care Med (2004) 2.08
A predominant role for the HLA class II region in the association of the MHC region with multiple sclerosis. Nat Genet (2005) 2.03
The genetic basis for cancer treatment decisions. Cell (2012) 2.03
Genetic variants associated with myocardial infarction risk factors in over 8000 individuals from five ethnic groups: The INTERHEART Genetics Study. Circ Cardiovasc Genet (2009) 1.83
CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. Am J Hum Genet (2009) 1.78
Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol. Am J Hum Genet (2007) 1.77
1alpha,25-dihydroxy-vitamin D3 stimulation of bronchial smooth muscle cells induces autocrine, contractility, and remodeling processes. Physiol Genomics (2007) 1.73
Cancer genomics: technology, discovery, and translation. J Clin Oncol (2012) 1.70
The growth factor midkine is modulated by both glucocorticoid and retinoid in fetal lung development. Am J Respir Cell Mol Biol (2003) 1.62
A Pan-BCL2 inhibitor renders bone-marrow-resident human leukemia stem cells sensitive to tyrosine kinase inhibition. Cell Stem Cell (2013) 1.59
Correction of population stratification in large multi-ethnic association studies. PLoS One (2008) 1.59
Characterization of gene-environment interactions for colorectal cancer susceptibility loci. Cancer Res (2012) 1.58
A genome-wide approach to identifying novel-imprinted genes. Hum Genet (2007) 1.55
Genome-wide scan for linkage to obesity-associated hypertension in French Canadians. Hypertension (2005) 1.55
Skin barrier function and allergic risk. Nat Genet (2006) 1.50
Feasibility of real time next generation sequencing of cancer genes linked to drug response: results from a clinical trial. Int J Cancer (2012) 1.49
Analyses of associations with asthma in four asthma population samples from Canada and Australia. Hum Genet (2009) 1.48
An evaluation of the performance of tag SNPs derived from HapMap in a Caucasian population. PLoS Genet (2006) 1.47
Sex-stratified linkage analysis identifies a female-specific locus for IgE to cockroach in Costa Ricans. Am J Respir Crit Care Med (2008) 1.43
An efficient method for the detection and elimination of systematic error in high-throughput screening. Bioinformatics (2007) 1.43
Microarray analysis of uterine gene expression in mouse and human pregnancy. Mol Endocrinol (2003) 1.41
Is rigorous retrospective harmonization possible? Application of the DataSHaPER approach across 53 large studies. Int J Epidemiol (2011) 1.41
Comparison of small n statistical tests of differential expression applied to microarrays. BMC Bioinformatics (2009) 1.40
Toward further mapping of the association between the IL2RA locus and type 1 diabetes. Diabetes (2007) 1.38
Wanted: regulatory SNPs. Nat Genet (2003) 1.37
A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. Am J Hum Genet (2002) 1.35
Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. Hum Mol Genet (2002) 1.34
The molecular and cellular heterogeneity of pancreatic ductal adenocarcinoma. Nat Rev Gastroenterol Hepatol (2011) 1.32
Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes. Diabetes (2004) 1.32
Functional classes of bronchial mucosa genes that are differentially expressed in asthma. BMC Genomics (2004) 1.32
Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. PLoS Genet (2008) 1.32
Expression profiling in squamous carcinoma cells reveals pleiotropic effects of vitamin D3 analog EB1089 signaling on cell proliferation, differentiation, and immune system regulation. Mol Endocrinol (2002) 1.30
Chromosome 6q25 is linked to susceptibility to leprosy in a Vietnamese population. Nat Genet (2003) 1.30
Unraveling the genetics of cancer: genome sequencing and beyond. Annu Rev Genomics Hum Genet (2011) 1.27
Replication of an association between 17q21 SNPs and asthma in a French-Canadian familial collection. Hum Genet (2007) 1.26
Asthma and genes encoding components of the vitamin D pathway. Respir Res (2009) 1.26
A combinatorial network of evolutionarily conserved myelin basic protein regulatory sequences confers distinct glial-specific phenotypes. J Neurosci (2003) 1.23
Polymorphisms in toll-like receptor 4 are not associated with asthma or atopy-related phenotypes. Am J Respir Crit Care Med (2002) 1.22
Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes. Diabetes (2005) 1.22
FOXC1 is required for cell viability and resistance to oxidative stress in the eye through the transcriptional regulation of FOXO1A. Hum Mol Genet (2007) 1.21
Identification of susceptibility genes for complex diseases using pooling-based genome-wide association scans. Hum Genet (2009) 1.20
The art and science of biobanking. Hum Genet (2011) 1.20
A methodology for global validation of microarray experiments. BMC Bioinformatics (2006) 1.19
Effect of apolipoprotein E, peroxisome proliferator-activated receptor alpha and lipoprotein lipase gene mutations on the ability of fenofibrate to improve lipid profiles and reach clinical guideline targets among hypertriglyceridemic patients. Pharmacogenetics (2002) 1.19
5' flanking variants of resistin are associated with obesity. Diabetes (2002) 1.16
Common polymorphisms in the promoter of the visfatin gene (PBEF1) influence plasma insulin levels in a French-Canadian population. Diabetes (2006) 1.16
Association testing of variants in the hepatocyte nuclear factor 4alpha gene with risk of type 2 diabetes in 7,883 people. Diabetes (2005) 1.12
Discrimination between serous low malignant potential and invasive epithelial ovarian tumors using molecular profiling. Oncogene (2005) 1.10
Transmission-ratio distortion and allele sharing in affected sib pairs: a new linkage statistic with reduced bias, with application to chromosome 6q25.3. Am J Hum Genet (2004) 1.10
Elucidating cis- and trans-regulatory variation using genetical genomics. Trends Genet (2006) 1.08
Methods for combining peptide intensities to estimate relative protein abundance. Bioinformatics (2009) 1.05
Identification of differential translation in genome wide studies. Proc Natl Acad Sci U S A (2010) 1.05
A genetic linkage map of the vervet monkey (Chlorocebus aethiops sabaeus). Mamm Genome (2007) 1.04
Reduced proportions of natural killer T cells are present in the relatives of lupus patients and are associated with autoimmunity. Arthritis Res Ther (2008) 1.03
Assessing DNA sequence variations in human ESTs in a phylogenetic context using high-density oligonucleotide arrays. Genomics (2002) 1.03
Systematic error detection in experimental high-throughput screening. BMC Bioinformatics (2011) 1.03
anota: Analysis of differential translation in genome-wide studies. Bioinformatics (2011) 1.02
From genomic databases to translation: a call to action. J Med Ethics (2011) 1.02
Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. Am J Hum Genet (2002) 1.02
From gene profiling to diagnostic markers: IL-18 and FGF-2 complement CA125 as serum-based markers in epithelial ovarian cancer. Int J Cancer (2006) 1.01
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Am J Hum Genet (2006) 1.01
Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec. Hum Genet (2005) 1.01