Published in Genome Res on December 01, 2002
Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations. Am J Hum Genet (2004) 3.91
Classification of BRCA1 missense variants of unknown clinical significance. J Med Genet (2005) 1.71
Efficient selection of tagging single-nucleotide polymorphisms in multiple populations. Hum Genet (2006) 1.66
Rare BRCA1 haplotypes including 3'UTR SNPs associated with breast cancer risk. Cell Cycle (2011) 1.64
Linkage disequilibrium and inference of ancestral recombination in 538 single-nucleotide polymorphism clusters across the human genome. Am J Hum Genet (2003) 1.58
Genome-wide association studies in cancer--current and future directions. Carcinogenesis (2009) 1.39
Linkage disequilibrium reveals different demographic history in egg laying chickens. BMC Genet (2010) 1.18
Haplotype analysis of the apolipoprotein gene cluster on human chromosome 11. Genomics (2004) 1.17
SNPs in cancer research and treatment. Br J Cancer (2004) 1.16
Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes. Hum Genet (2005) 1.13
The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer. Hum Mutat (2006) 1.09
Haplotype diversity in 11 candidate genes across four populations. Genetics (2005) 0.99
Aberrant CpG island methylation in early-onset sporadic gastric carcinoma. J Cancer Res Clin Oncol (2005) 0.95
Worldwide variation in human drug-metabolism enzyme genes CYP2B6 and UGT2B7: implications for HIV/AIDS treatment. Pharmacogenomics (2012) 0.93
Family-based and population-based association studies validate PTPRD as a risk factor for restless legs syndrome. Mov Disord (2011) 0.91
Common genetic variation in TP53 and risk of human papillomavirus persistence and progression to CIN3/cancer revisited. Cancer Epidemiol Biomarkers Prev (2009) 0.88
Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes. BMC Genet (2004) 0.86
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. Am J Hum Genet (2006) 0.83
Comparative description of haplotype structure and genetic diversity of MDR1 (ABCB1) in HIV-positive and HIV-negative populations. Infect Genet Evol (2009) 0.81
Variation in human β-defensin genes: new insights from a multi-population study. Int J Immunogenet (2012) 0.80
Evidence of gene conversion in the evolutionary process of the codon 41/42 (-CTTT) mutation causing beta-thalassemia in southern China. J Mol Evol (2008) 0.79
Polymorphisms and a haplotype in heparanase gene associations with the progression and prognosis of gastric cancer in a northern Chinese population. PLoS One (2012) 0.79
Cloud computing-based TagSNP selection algorithm for human genome data. Int J Mol Sci (2015) 0.77
Germline genetic profiling in prostate cancer: latest developments and potential clinical applications. Future Sci OA (2015) 0.75
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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 properties of the number of recombination events in the history of a sample of DNA sequences. Genetics (1985) 20.92
High-resolution haplotype structure in the human genome. Nat Genet (2001) 20.51
Linkage disequilibrium in the human genome. Nature (2001) 17.24
Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex. Nat Genet (2001) 15.53
Linkage disequilibrium in finite populations. Theor Appl Genet (1968) 12.55
Haplotype tagging for the identification of common disease genes. Nat Genet (2001) 11.27
Bayesian haplotype inference for multiple linked single-nucleotide polymorphisms. Am J Hum Genet (2001) 10.48
GOLD--graphical overview of linkage disequilibrium. Bioinformatics (2000) 9.43
Nonuniform recombination within the human beta-globin gene cluster. Am J Hum Genet (1984) 7.97
Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. Am J Hum Genet (1998) 7.56
Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28. Nat Genet (2000) 5.65
The accuracy of statistical methods for estimation of haplotype frequencies: an example from the CD4 locus. Am J Hum Genet (2000) 4.07
Extent and distribution of linkage disequilibrium in three genomic regions. Am J Hum Genet (2000) 3.68
Genetic epidemiology of single-nucleotide polymorphisms. Proc Natl Acad Sci U S A (1999) 2.81
Single nucleotide polymorphism and linkage disequilibrium within the TCR alpha/delta locus. Hum Mol Genet (2000) 2.51
Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations. Am J Hum Genet (2000) 2.43
The detection of linkage disequilibrium in molecular sequence data. Genetics (1995) 2.39
Linkage disequilibrium and allele-frequency distributions for 114 single-nucleotide polymorphisms in five populations. Am J Hum Genet (2000) 2.25
Global analysis of ATM polymorphism reveals significant functional constraint. Am J Hum Genet (2001) 1.80
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Identification of susceptibility loci for insulin-dependent diabetes mellitus by trans-racial gene mapping. Nature (1989) 1.64
Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium. Am J Hum Genet (2000) 1.41
Evidence for effective suppression of recombination in the chromosome 17q21 segment spanning RNU2-BRCA1. Am J Hum Genet (1999) 1.03
A robotics-assisted procedure for large scale cystic fibrosis mutation analysis. Hum Mutat (1994) 0.97
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
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
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
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
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
Mutation rate variation at human dinucleotide microsatellites. Genetics (2005) 1.06
Association of ApoE genetic variants with obstructive sleep apnea in children. Sleep Med (2007) 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
Evaluating the quality of reporting occupational therapy randomized controlled trials by expanding the CONSORT criteria. Am J Occup Ther (2006) 1.03
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
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
Temporal-spatial activation of apoptosis and epithelial injury in murine experimental biliary atresia. Hepatology (2008) 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
Whole-genome amplification: relative efficiencies of the current methods. Leg Med (Tokyo) (2005) 1.00
Desmoplakin and talin2 are novel mRNA targets of fragile X-related protein-1 in cardiac muscle. Circ Res (2011) 1.00
Argonaute-2-dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeat. Hum Mol Genet (2007) 0.99
Staging of biliary atresia at diagnosis by molecular profiling of the liver. Genome Med (2010) 0.99
AKAP350 interaction with cdc42 interacting protein 4 at the Golgi apparatus. Mol Biol Cell (2004) 0.99
Distribution and effects of nonsense polymorphisms in human genes. PLoS One (2008) 0.99
Comparison of effects of dual transporter inhibitors on monoamine transporters and extracellular levels in rats. Neuropharmacology (2003) 0.98
Use of prior odds for missing persons identifications. Investig Genet (2011) 0.98
Analysis of human CYP1A1 and CYP1A2 genes and their shared bidirectional promoter in eight world populations. Hum Mutat (2010) 0.98
Uncertainties in estimating health risks associated with exposure to ionising radiation. J Radiol Prot (2013) 0.98