Published in Genome Res on April 01, 2002
New explicit expressions for relative frequencies of single-nucleotide polymorphisms with application to statistical inference on population growth. Genetics (2003) 1.97
Large scale single nucleotide polymorphism discovery in unsequenced genomes using second generation high throughput sequencing technology: applied to turkey. BMC Genomics (2009) 1.31
Mining for single nucleotide polymorphisms in pig genome sequence data. BMC Genomics (2009) 1.02
The Werner's syndrome 4330T>C (Cys1367Arg) gene variant does not affect the in vitro cytotoxicity of topoisomerase inhibitors and platinum compounds. Cancer Chemother Pharmacol (2008) 0.79
The future of genetic studies of complex human diseases. Science (1996) 64.76
Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet (1993) 51.42
The Interaction of Selection and Linkage. I. General Considerations; Heterotic Models. Genetics (1964) 35.22
Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol (1995) 30.55
Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat Genet (1999) 25.93
Statistical tests of neutrality of mutations. Genetics (1993) 24.94
Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet (1999) 24.24
Statistical properties of the number of recombination events in the history of a sample of DNA sequences. Genetics (1985) 20.92
Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science (1998) 18.23
Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet (1999) 17.09
DnaSP version 3: an integrated program for molecular population genetics and molecular evolution analysis. Bioinformatics (1999) 14.86
DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nat Genet (1998) 11.70
Positional cloning of the Werner's syndrome gene. Science (1996) 10.98
The Bloom's syndrome gene product is homologous to RecQ helicases. Cell (1995) 9.91
Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. Am J Hum Genet (1998) 7.56
The use of a genetic map of biallelic markers in linkage studies. Nat Genet (1997) 6.62
Role of a p53 polymorphism in the development of human papillomavirus-associated cancer. Nature (1998) 6.16
The power of association studies to detect the contribution of candidate genetic loci to variation in complex traits. Genome Res (1999) 5.03
Bloom syndrome: a mendelian prototype of somatic mutational disease. Medicine (Baltimore) (1993) 4.89
The Werner syndrome protein is a DNA helicase. Nat Genet (1997) 4.03
A 4-Mb high-density single nucleotide polymorphism-based map around human APOE. Genomics (1998) 3.91
Mutator phenotype of Werner syndrome is characterized by extensive deletions. Proc Natl Acad Sci U S A (1989) 3.55
The Bloom's syndrome gene product is a 3'-5' DNA helicase. J Biol Chem (1997) 3.32
Escherichia coli RecQ protein is a DNA helicase. Proc Natl Acad Sci U S A (1990) 3.27
Excess of rare cancers in Werner syndrome (adult progeria). Cancer Epidemiol Biomarkers Prev (1996) 2.76
Increasing the information content of STS-based genome maps: identifying polymorphisms in mapped STSs. Genomics (1996) 2.57
Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ. J Biol Chem (1994) 2.54
A global survey of haplotype frequencies and linkage disequilibrium at the DRD2 locus. Hum Genet (1998) 2.44
Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations. Am J Hum Genet (2000) 2.43
Hereditary cancer: two hits revisited. J Cancer Res Clin Oncol (1996) 2.27
Linkage disequilibrium and allele-frequency distributions for 114 single-nucleotide polymorphisms in five populations. Am J Hum Genet (2000) 2.25
Allelic disequilibrium and allele frequency distribution as a function of social and demographic history. Am J Hum Genet (1997) 2.14
Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations. Am J Hum Genet (2000) 1.94
DnaSP, DNA sequence polymorphism: an interactive program for estimating population genetics parameters from DNA sequence data. Comput Appl Biosci (1995) 1.92
Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium. Am J Hum Genet (2000) 1.41
Analysis of association at single nucleotide polymorphisms in the APOE region. Genomics (2000) 1.40
Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations. Hum Mol Genet (1999) 1.24
Association of a polymorphic variant of the Werner helicase gene with myocardial infarction in a Japanese population. Am J Med Genet (1997) 1.17
Family analysis of Werner's syndrome: a survey of 42 Japanese families with a review of the literature. Clin Genet (1981) 1.13
WRN mutations in Werner syndrome. Hum Mutat (1999) 1.11
The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry. Am J Hum Genet (1998) 1.06
Polymorphisms at the Werner locus: I. Newly identified polymorphisms, ethnic variability of 1367Cys/Arg, and its stability in a population of Finnish centenarians. Am J Med Genet (1999) 0.99
A robotics-assisted procedure for large scale cystic fibrosis mutation analysis. Hum Mutat (1994) 0.97
Gene diversity and estimation of genetic admixture among Mexican-Americans of Starr County, Texas. Ann Hum Biol (1992) 0.96
Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome. Hum Mol Genet (1997) 0.94
High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin. Genet Test (1998) 0.94
Update on nomenclature for human gene mutations. Ad Hoc Committee on Mutation Nomenclature. Hum Mutat (1996) 0.87
p53 polymorphism and risk of cervical cancer. Nature (1998) 0.86
Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation. Genet Test (1999) 0.85
Neutral sequence variants and haplotypes at the 150 Kb ataxia-telangiectasia locus. Am J Med Genet (1999) 0.83
p53 polymorphism and risk of cervical cancer. Nature (1998) 0.81
Werner syndrome: characterization of mutations in the WRN gene in an affected family. Eur J Hum Genet (1998) 0.78
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
Integrative annotation of 21,037 human genes validated by full-length cDNA clones. PLoS Biol (2004) 7.17
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway. Nat Neurosci (2004) 4.69
Distribution of recombination crossovers and the origin of haplotype blocks: the interplay of population history, recombination, and mutation. Am J Hum Genet (2002) 4.29
simuPOP: a forward-time population genetics simulation environment. Bioinformatics (2005) 4.27
Atomoxetine increases extracellular levels of norepinephrine and dopamine in prefrontal cortex of rat: a potential mechanism for efficacy in attention deficit/hyperactivity disorder. Neuropsychopharmacology (2002) 3.79
Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed. Hum Mutat (2011) 3.75
Microbial DNA typing by automated repetitive-sequence-based PCR. J Clin Microbiol (2005) 3.44
RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron (2007) 3.30
Genetic evidence supports demic diffusion of Han culture. Nature (2004) 2.92
An accurate, sensitive, and scalable method to identify functional sites in protein structures. J Mol Biol (2003) 2.87
Mathematical model of NF-kappaB regulatory module. J Theor Biol (2004) 2.75
Predictive value of serum uric acid levels on mortality in acute coronary syndrome patients with chronic kidney disease after drug-eluting stent implantation. Cardiology (2013) 2.64
Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice. Neurobiol Dis (2008) 2.52
Impact of reduced tobacco smoking on lung cancer mortality in the United States during 1975-2000. J Natl Cancer Inst (2012) 2.30
Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration. Proc Natl Acad Sci U S A (2013) 2.30
The H-Invitational Database (H-InvDB), a comprehensive annotation resource for human genes and transcripts. Nucleic Acids Res (2007) 2.07
Forward-time simulations of human populations with complex diseases. PLoS Genet (2007) 1.87
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet (2007) 1.87
Y-chromosome evidence of southern origin of the East Asian-specific haplogroup O3-M122. Am J Hum Genet (2005) 1.86
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood (2004) 1.78
Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron (2002) 1.76
Simulations provide support for the common disease-common variant hypothesis. Genetics (2006) 1.72
Heterogeneity of large macromolecular complexes revealed by 3D cryo-EM variance analysis. Structure (2008) 1.70
Association of apolipoprotein E4 and haplotypes of the apolipoprotein E gene with lobar intracerebral hemorrhage. Stroke (2005) 1.65
Admixture in Hispanics: distribution of ancestral population contributions in the Continental United States. Hum Biol (2003) 1.64
Successful determination of lower inflection point and maximal compliance in a population of patients with acute respiratory distress syndrome. Crit Care Med (2002) 1.60
Assessment of optimal size and composition of the U.S. National Registry of hematopoietic stem cell donors. Transplantation (2004) 1.59
Analyses of genetic structure of Tibeto-Burman populations reveals sex-biased admixture in southern Tibeto-Burmans. Am J Hum Genet (2004) 1.57
Ectopic expression of CGG containing mRNA is neurotoxic in mammals. Hum Mol Genet (2009) 1.54
Identifying conformational states of macromolecules by eigen-analysis of resampled cryo-EM images. Structure (2011) 1.53
Population genetic analyses of the NGM STR loci. Int J Legal Med (2010) 1.50
Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning. Nat Med (2011) 1.47
Interpreting Y chromosome STR haplotype mixture. Leg Med (Tokyo) (2010) 1.47
Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. Blood (2004) 1.46
Single TNFalpha trimers mediating NF-kappaB activation: stochastic robustness of NF-kappaB signaling. BMC Bioinformatics (2007) 1.44
Different rates of DNA replication at early versus late S-phase sections: multiscale modeling of stochastic events related to DNA content/EdU (5-ethynyl-2'deoxyuridine) incorporation distributions. Cytometry A (2014) 1.42
Prediction of enzyme function based on 3D templates of evolutionarily important amino acids. BMC Bioinformatics (2008) 1.41
V75R576 IL-4 receptor alpha is associated with allergic asthma and enhanced IL-4 receptor function. J Immunol (2002) 1.40
Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo. Hum Mol Genet (2004) 1.39
Exaggerated behavioral phenotypes in Fmr1/Fxr2 double knockout mice reveal a functional genetic interaction between Fragile X-related proteins. Hum Mol Genet (2006) 1.38
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A (2007) 1.37
Role for Msh5 in the regulation of Ig class switch recombination. Proc Natl Acad Sci U S A (2007) 1.35
Examining population stratification via individual ancestry estimates versus self-reported race. Cancer Epidemiol Biomarkers Prev (2005) 1.33
AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med (2012) 1.33
Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier? Am J Hum Genet (2005) 1.32
Fragile X-related proteins regulate mammalian circadian behavioral rhythms. Am J Hum Genet (2008) 1.32
Genetic analysis and attribution of microbial forensics evidence. Crit Rev Microbiol (2005) 1.31
Stochastic regulation in early immune response. Biophys J (2005) 1.31
Genome-wide structural and evolutionary analysis of the P450 monooxygenase genes (P450ome) in the white rot fungus Phanerochaete chrysosporium: evidence for gene duplications and extensive gene clustering. BMC Genomics (2005) 1.27
Pharmacologic characterization of the cloned human trace amine-associated receptor1 (TAAR1) and evidence for species differences with the rat TAAR1. J Pharmacol Exp Ther (2006) 1.26
Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome Res (2002) 1.26
Mutation rates at Y chromosome short tandem repeats in Texas populations. Forensic Sci Int Genet (2009) 1.26
Association of Phosphodiesterase 4D with ischemic stroke: a population-based case-control study. Stroke (2005) 1.25
Comparisons of familial DNA database searching strategies. J Forensic Sci (2011) 1.25
Altered hippocampal synaptic plasticity in the FMR1 gene family knockout mouse models. J Neurophysiol (2009) 1.24
Randomly distributed crossovers may generate block-like patterns of linkage disequilibrium: an act of genetic drift. Hum Genet (2003) 1.23
Bmal1 and β-cell clock are required for adaptation to circadian disruption, and their loss of function leads to oxidative stress-induced β-cell failure in mice. Mol Cell Biol (2013) 1.22
Social behavior in Fmr1 knockout mice carrying a human FMR1 transgene. Behav Neurosci (2008) 1.21
DNA identification by pedigree likelihood ratio accommodating population substructure and mutations. Investig Genet (2010) 1.20
Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. PLoS Genet (2005) 1.19
Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol (2009) 1.17
Evidence for a major gene influence on persistent developmental stuttering. Hum Biol (2004) 1.15
Forensics and mitochondrial DNA: applications, debates, and foundations. Annu Rev Genomics Hum Genet (2003) 1.15
Knockout mouse model for Fxr2: a model for mental retardation. Hum Mol Genet (2002) 1.13
Stochastic search gene suggestion: a Bayesian hierarchical model for gene mapping. Biometrics (2006) 1.13
A Ser49Cys variant in the ataxia telangiectasia, mutated, gene that is more common in patients with breast carcinoma compared with population controls. Cancer (2004) 1.11
Strength of the purifying selection against different categories of the point mutations in the coding regions of the human genome. Hum Mol Genet (2006) 1.10
Molecular mechanisms of autosomal recessive hypercholesterolemia. Curr Opin Lipidol (2003) 1.10
AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome. Neurobiol Dis (2011) 1.09
Transcriptional stochasticity in gene expression. J Theor Biol (2005) 1.09
Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia. Ann Hum Genet (2012) 1.08
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet (2004) 1.08
Recurrent use of evolutionary importance for functional annotation of proteins based on local structural similarity. Protein Sci (2006) 1.08
Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings. J Clin Invest (2003) 1.08
Effect of surgical weight loss on sleep architecture in adolescents with severe obesity. Obes Surg (2008) 1.07
Genetic structure of Hmong-Mien speaking populations in East Asia as revealed by mtDNA lineages. Mol Biol Evol (2004) 1.07
Agreement between Occupational Therapy Practice Framework classifications and occupational therapists' classifications. Am J Occup Ther (2007) 1.07
Choosing relatives for DNA identification of missing persons. J Forensic Sci (2010) 1.07
Diisocyanate asthma and gene-environment interactions with IL4RA, CD-14, and IL-13 genes. Ann Allergy Asthma Immunol (2006) 1.06
Association of ApoE genetic variants with obstructive sleep apnea in children. Sleep Med (2007) 1.06
Mutation rate variation at human dinucleotide microsatellites. Genetics (2005) 1.06
Texas population substructure and its impact on estimating the rarity of Y STR haplotypes from DNA evidence*. J Forensic Sci (2009) 1.06
Toward a system of microbial forensics: from sample collection to interpretation of evidence. Appl Environ Microbiol (2005) 1.05
R-fluoxetine increases extracellular DA, NE, as well as 5-HT in rat prefrontal cortex and hypothalamus: an in vivo microdialysis and receptor binding study. Neuropsychopharmacology (2002) 1.05
Statistical analysis of missense mutation classifiers. Hum Mutat (2012) 1.04
Genome-wide alteration of 5-hydroxymethylcytosine in a mouse model of fragile X-associated tremor/ataxia syndrome. Hum Mol Genet (2013) 1.03
Estimating the growth rates of primary lung tumours from samples with missing measurements. Stat Med (2005) 1.03
Evaluating the quality of reporting occupational therapy randomized controlled trials by expanding the CONSORT criteria. Am J Occup Ther (2006) 1.03
Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice. J Neurosci (2002) 1.02
Common SNPs in FTO gene are associated with obesity related anthropometric traits in an island population from the eastern Adriatic coast of Croatia. PLoS One (2010) 1.01
Unequal contributions of male and female gene pools from parental populations in the African descendants of the city of Melo, Uruguay. Am J Phys Anthropol (2002) 1.01
Association of dysglycemia and all-cause mortality across the spectrum of coronary artery disease. Mayo Clin Proc (2013) 1.01
Temporal-spatial activation of apoptosis and epithelial injury in murine experimental biliary atresia. Hepatology (2008) 1.01
Whole-genome amplification: relative efficiencies of the current methods. Leg Med (Tokyo) (2005) 1.00