Published in Am J Hum Genet on January 01, 2008
Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet (2008) 26.79
A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet (2009) 19.64
Missing heritability and strategies for finding the underlying causes of complex disease. Nat Rev Genet (2010) 14.81
XBP1 links ER stress to intestinal inflammation and confers genetic risk for human inflammatory bowel disease. Cell (2008) 8.43
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One (2008) 7.16
Common vs. rare allele hypotheses for complex diseases. Curr Opin Genet Dev (2009) 6.85
Statistical analysis strategies for association studies involving rare variants. Nat Rev Genet (2010) 6.79
Simultaneous analysis of all SNPs in genome-wide and re-sequencing association studies. PLoS Genet (2008) 6.66
A data-adaptive sum test for disease association with multiple common or rare variants. Hum Hered (2010) 5.95
Validating, augmenting and refining genome-wide association signals. Nat Rev Genet (2009) 4.56
A general framework for detecting disease associations with rare variants in sequencing studies. Am J Hum Genet (2011) 4.52
Bayesian statistical methods for genetic association studies. Nat Rev Genet (2009) 4.37
A novel adaptive method for the analysis of next-generation sequencing data to detect complex trait associations with rare variants due to gene main effects and interactions. PLoS Genet (2010) 3.78
Discovery of rare variants via sequencing: implications for the design of complex trait association studies. PLoS Genet (2009) 3.72
Extending rare-variant testing strategies: analysis of noncoding sequence and imputed genotypes. Am J Hum Genet (2010) 3.47
Comparison of statistical tests for disease association with rare variants. Genet Epidemiol (2011) 3.42
Recent insights into the genetic basis of systemic lupus erythematosus. Genes Immun (2009) 2.78
A genome-wide association study on African-ancestry populations for asthma. J Allergy Clin Immunol (2009) 2.53
Quality control procedures for genome-wide association studies. Curr Protoc Hum Genet (2011) 2.48
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron (2013) 2.45
Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing. Nat Genet (2010) 2.08
Design of association studies with pooled or un-pooled next-generation sequencing data. Genet Epidemiol (2010) 2.06
Association studies for next-generation sequencing. Genome Res (2011) 1.89
Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy. Heart Rhythm (2011) 1.85
The HapMap and genome-wide association studies in diagnosis and therapy. Annu Rev Med (2009) 1.83
Design and characterization of a 52K SNP chip for goats. PLoS One (2014) 1.79
Overcoming bias and systematic errors in next generation sequencing data. Genome Med (2010) 1.75
Generalized linear modeling with regularization for detecting common disease rare haplotype association. Genet Epidemiol (2009) 1.75
An evolutionary framework for association testing in resequencing studies. PLoS Genet (2010) 1.74
Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus. BMC Genet (2009) 1.63
Hierarchical generalized linear models for multiple groups of rare and common variants: jointly estimating group and individual-variant effects. PLoS Genet (2011) 1.61
A genome-wide comparison of the functional properties of rare and common genetic variants in humans. Am J Hum Genet (2011) 1.56
Evolutionary evidence of the effect of rare variants on disease etiology. Clin Genet (2010) 1.54
The application of naive Bayes model averaging to predict Alzheimer's disease from genome-wide data. J Am Med Inform Assoc (2011) 1.52
Exome sequencing and complex disease: practical aspects of rare variant association studies. Hum Mol Genet (2012) 1.52
Replication strategies for rare variant complex trait association studies via next-generation sequencing. Am J Hum Genet (2010) 1.51
Adaptive tests for association analysis of rare variants. Genet Epidemiol (2011) 1.48
Human allelic variation: perspective from protein function, structure, and evolution. Curr Opin Struct Biol (2010) 1.47
Whole-exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes. Am J Hum Genet (2013) 1.43
Mapping of the UGT1A locus identifies an uncommon coding variant that affects mRNA expression and protects from bladder cancer. Hum Mol Genet (2012) 1.31
Regions of homozygosity and their impact on complex diseases and traits. Hum Genet (2010) 1.30
Approaches for evaluating rare polymorphisms in genetic association studies. Hum Hered (2010) 1.30
The effect of minor allele frequency on the likelihood of obtaining false positives. BMC Proc (2009) 1.28
Genetics of nonsyndromic orofacial clefts. Cleft Palate Craniofac J (2011) 1.27
Functional linear models for association analysis of quantitative traits. Genet Epidemiol (2013) 1.26
Identification of genetic association of multiple rare variants using collapsing methods. Genet Epidemiol (2011) 1.26
Meta-analysis of gene-level associations for rare variants based on single-variant statistics. Am J Hum Genet (2013) 1.24
Child development and molecular genetics: 14 years later. Child Dev (2012) 1.23
Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review. Am J Epidemiol (2010) 1.21
An optimal weighted aggregated association test for identification of rare variants involved in common diseases. Genetics (2011) 1.21
Integrating genetic and gene expression evidence into genome-wide association analysis of gene sets. Genome Res (2011) 1.20
Current status on Alzheimer disease molecular genetics: from past, to present, to future. Hum Mol Genet (2010) 1.20
GWAS meets microarray: are the results of genome-wide association studies and gene-expression profiling consistent? Prostate cancer as an example. PLoS One (2009) 1.20
Evaluating our ability to predict the structural disruption of RNA by SNPs. BMC Genomics (2012) 1.19
Genetics and the environment converge to dysregulate N-glycosylation in multiple sclerosis. Nat Commun (2011) 1.19
The impact of population demography and selection on the genetic architecture of complex traits. PLoS Genet (2014) 1.19
Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data. Am J Hum Genet (2013) 1.16
On optimal pooling designs to identify rare variants through massive resequencing. Genet Epidemiol (2011) 1.12
Low frequency variants, collapsed based on biological knowledge, uncover complexity of population stratification in 1000 genomes project data. PLoS Genet (2013) 1.12
Hypothesis-driven candidate gene association studies: practical design and analytical considerations. Am J Epidemiol (2009) 1.12
Clinical and genetic features in Italian Bietti crystalline dystrophy patients. Br J Ophthalmol (2012) 1.10
Asymmetric and non-uniform evolution of recently duplicated human genes. Biol Direct (2010) 1.07
SimRare: a program to generate and analyze sequence-based data for association studies of quantitative and qualitative traits. Bioinformatics (2012) 1.07
Utilizing genotype imputation for the augmentation of sequence data. PLoS One (2010) 1.06
Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling. Genet Epidemiol (2011) 1.04
Utility of genetic determinants of lipids and cardiovascular events in assessing risk. Nat Rev Cardiol (2011) 1.04
Clinical review: Genome-wide association studies of skeletal phenotypes: what we have learned and where we are headed. J Clin Endocrinol Metab (2012) 1.04
Trade-off in the effects of the apolipoprotein E polymorphism on the ages at onset of CVD and cancer influences human lifespan. Aging Cell (2011) 1.03
Meta-analysis of sequencing studies with heterogeneous genetic associations. Genet Epidemiol (2014) 1.00
Genetic determinants of macular pigments in women of the Carotenoids in Age-Related Eye Disease Study. Invest Ophthalmol Vis Sci (2013) 0.99
Generalized functional linear models for gene-based case-control association studies. Genet Epidemiol (2014) 0.99
Novel genetic variants in miR-191 gene and familial ovarian cancer. BMC Cancer (2010) 0.98
Screening low-frequency SNPS from genome-wide association study reveals a new risk allele for progression to AIDS. J Acquir Immune Defic Syndr (2011) 0.98
Beyond the fourth wave of genome-wide obesity association studies. Nutr Diabetes (2012) 0.98
Disease risk prediction with rare and common variants. BMC Proc (2011) 0.98
Genetic architecture of colorectal cancer. Gut (2015) 0.97
Annotating individual human genomes. Genomics (2011) 0.97
A powerful test for multiple rare variants association studies that incorporates sequencing qualities. Nucleic Acids Res (2012) 0.96
Discovery of functional gene variants associated with human longevity: opportunities and challenges. J Gerontol A Biol Sci Med Sci (2011) 0.96
Identifying rare variants associated with complex traits via sequencing. Curr Protoc Hum Genet (2013) 0.95
P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure. Environ Health Prev Med (2012) 0.95
Detecting and exploiting etiologic heterogeneity in epidemiologic studies. Am J Epidemiol (2012) 0.94
Transmission ratio distortion: review of concept and implications for genetic association studies. Hum Genet (2012) 0.94
A unified framework for multi-locus association analysis of both common and rare variants. BMC Genomics (2011) 0.92
Meta-analysis of genome-wide linkage studies across autoimmune diseases. Eur J Hum Genet (2008) 0.92
Converging evidence implicates the abnormal microRNA system in schizophrenia. Schizophr Bull (2014) 0.91
Rare and low frequency variant stratification in the UK population: description and impact on association tests. PLoS One (2012) 0.91
Improved detection of rare genetic variants for diseases. PLoS One (2010) 0.91
A germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma predisposition. Sci Rep (2015) 0.91
Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe. Orphanet J Rare Dis (2011) 0.91
Genome-wide Association Studies for Osteoporosis: A 2013 Update. J Bone Metab (2014) 0.90
Rare variant association testing by adaptive combination of P-values. PLoS One (2014) 0.90
Identifying rarer genetic variants for common complex diseases: diseased versus neutral discovery panels. Ann Hum Genet (2009) 0.90
Translational mini-review series on the immunogenetics of gut disease: immunogenetics of coeliac disease. Clin Exp Immunol (2008) 0.90
Ion channels and schizophrenia: a gene set-based analytic approach to GWAS data for biological hypothesis testing. Hum Genet (2011) 0.89
A weighted false discovery rate control procedure reveals alleles at FOXA2 that influence fasting glucose levels. Am J Hum Genet (2010) 0.89
Genomics of human health and aging. Age (Dordr) (2011) 0.89
Novel CDH1 germline mutations identified in Chinese gastric cancer patients. World J Gastroenterol (2013) 0.88
Increasing power of groupwise association test with likelihood ratio test. J Comput Biol (2011) 0.88
Rare variant association testing under low-coverage sequencing. Genetics (2013) 0.88
dbSNP: the NCBI database of genetic variation. Nucleic Acids Res (2001) 76.97
The International HapMap Project. Nature (2003) 73.65
The future of genetic studies of complex human diseases. Science (1996) 64.76
SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res (2003) 52.26
The structure of haplotype blocks in the human genome. Science (2002) 50.88
Human non-synonymous SNPs: server and survey. Nucleic Acids Res (2002) 50.45
The ENCODE (ENCyclopedia Of DNA Elements) Project. Science (2004) 38.24
Complement factor H polymorphism in age-related macular degeneration. Science (2005) 31.10
A map of recent positive selection in the human genome. PLoS Biol (2006) 29.19
A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature (2001) 28.24
Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet (1999) 24.24
Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet (2001) 22.46
Complement factor H polymorphism and age-related macular degeneration. Science (2005) 17.79
On the allelic spectrum of human disease. Trends Genet (2001) 16.26
The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet (2000) 15.19
Estimate of the mutation rate per nucleotide in humans. Genetics (2000) 15.08
A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet (2004) 13.71
Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat (2003) 12.88
Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet (2007) 10.92
The allelic architecture of human disease genes: common disease-common variant...or not? Hum Mol Genet (2002) 10.08
Power and sample size calculations. A review and computer program. Control Clin Trials (1990) 9.58
A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region. Nat Genet (2006) 8.65
Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases. Hum Mutat (2003) 8.35
A Pro12Ala substitution in PPARgamma2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity. Nat Genet (1998) 8.02
A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol. Am J Hum Genet (2006) 7.89
The International HapMap Project Web site. Genome Res (2005) 5.96
Commonly studied single-nucleotide polymorphisms and breast cancer: results from the Breast Cancer Association Consortium. J Natl Cancer Inst (2006) 5.60
Integrating ethics and science in the International HapMap Project. Nat Rev Genet (2004) 5.13
SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes. Nucleic Acids Res (2006) 4.63
The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits. Annu Rev Genomics Hum Genet (2003) 3.67
SNP500Cancer: a public resource for sequence validation and assay development for genetic variation in candidate genes. Nucleic Acids Res (2004) 3.47
Apolipoprotein E and Alzheimer's disease. Annu Rev Neurosci (1996) 3.26
The human gene mutation database. Trends Genet (1997) 2.72
Bioinformatics approaches and resources for single nucleotide polymorphism functional analysis. Brief Bioinform (2005) 2.60
Quality and completeness of SNP databases. Nat Genet (2003) 2.60
Concordance of multiple analytical approaches demonstrates a complex relationship between DNA repair gene SNPs, smoking and bladder cancer susceptibility. Carcinogenesis (2005) 2.08
Association of genetic loci: replication or not, that is the question. Neurology (2004) 1.84
Linkage disequilibrium patterns vary substantially among populations. Eur J Hum Genet (2005) 1.73
Simulations provide support for the common disease-common variant hypothesis. Genetics (2006) 1.72
Genetic analysis of complex diseases. Science (1997) 1.65
Ratios of radical to conservative amino acid replacement are affected by mutational and compositional factors and may not be indicative of positive Darwinian selection. Mol Biol Evol (2002) 1.60
A population threshold for functional polymorphisms. Genome Res (2003) 1.52
The Environmental Genome Project: functional analysis of polymorphisms. Environ Health Perspect (1998) 1.46
Use of molecular variation in the NCBI dbSNP database. Hum Mutat (2000) 1.44
Influence of dominance, leptokurtosis and pleiotropy of deleterious mutations on quantitative genetic variation at mutation-selection balance. Genetics (2004) 1.40
Genetic analysis of complex diseases. Science (1997) 1.38
Synonymous SNPs provide evidence for selective constraint on human exonic splicing enhancers. J Mol Evol (2005) 1.26
Genetic analysis of complex diseases. Science (1997) 1.21
SNP@Ethnos: a database of ethnically variant single-nucleotide polymorphisms. Nucleic Acids Res (2006) 1.14
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
Single nucleotide polymorphisms (SNPs) in the estrogen receptor gene and breast cancer susceptibility. J Steroid Biochem Mol Biol (1999) 1.03
Assessing DNA sequence variations in human ESTs in a phylogenetic context using high-density oligonucleotide arrays. Genomics (2002) 1.03
Linking C5 deficiency to an exonic splicing enhancer mutation. J Immunol (2005) 1.03
Oxidative stress and inflammation contribute to lung toxicity after a common breast cancer chemotherapy regimen. Am J Physiol Lung Cell Mol Physiol (2002) 1.01
How well do HapMap haplotypes identify common haplotypes of genes? A comparison with haplotypes of 334 genes resequenced in the environmental genome project. Cancer Epidemiol Biomarkers Prev (2006) 0.96
SNPs: can genetic variants control cancer susceptibility? J Natl Cancer Inst (2002) 0.92
The Environmental Genome Project: phase I and beyond. Mol Interv (2004) 0.91
Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA. Am J Med Genet A (2004) 0.90
Identifying the combination of genetic factors that determine susceptibility to cervical cancer. IEEE Trans Inf Technol Biomed (2004) 0.89
The use of genetic SNPs as new diagnostic markers in preventive medicine. Ann N Y Acad Sci (2005) 0.85
Type I Glanzmann thrombasthenia caused by an apparently silent beta3 mutation that results in aberrant splicing and reduced beta3 mRNA. Thromb Haemost (2005) 0.85
[Screening and analysis of coding SNPs of HLA-DQA1 gene involved in susceptibility for cervical cancer]. Ai Zheng (2006) 0.84
A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53
Somatic mutations affect key pathways in lung adenocarcinoma. Nature (2008) 30.02
The accessible chromatin landscape of the human genome. Nature (2012) 16.86
Characterizing the cancer genome in lung adenocarcinoma. Nature (2007) 16.48
Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1. Nat Genet (2008) 16.17
Systematic localization of common disease-associated variation in regulatory DNA. Science (2012) 14.47
A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet (2004) 13.71
Pooled association tests for rare variants in exon-resequencing studies. Am J Hum Genet (2010) 13.18
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. N Engl J Med (2007) 12.24
The mystery of missing heritability: Genetic interactions create phantom heritability. Proc Natl Acad Sci U S A (2012) 11.23
Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet (2007) 10.92
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. Nat Genet (2010) 9.90
STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med (2007) 9.80
Assessing the evolutionary impact of amino acid mutations in the human genome. PLoS Genet (2008) 8.92
Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nat Genet (2008) 7.07
Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet (2013) 6.67
Proportionally more deleterious genetic variation in European than in African populations. Nature (2008) 6.61
Functional variants of OCTN cation transporter genes are associated with Crohn disease. Nat Genet (2004) 5.83
A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. Am J Hum Genet (2009) 5.62
Power of deep, all-exon resequencing for discovery of human trait genes. Proc Natl Acad Sci U S A (2009) 5.61
Common 5p15.33 and 6p21.33 variants influence lung cancer risk. Nat Genet (2008) 5.43
Refining the complex rheumatoid arthritis phenotype based on specificity of the HLA-DRB1 shared epitope for antibodies to citrullinated proteins. Arthritis Rheum (2005) 5.18
Telomere dysfunction: a potential cancer predisposition factor. J Natl Cancer Inst (2003) 5.09
High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. Nat Genet (2012) 4.46
Genomic variation landscape of the human gut microbiome. Nature (2012) 4.38
A risk model for prediction of lung cancer. J Natl Cancer Inst (2007) 4.25
The PhenX Toolkit: get the most from your measures. Am J Epidemiol (2011) 4.19
Exome sequencing and the genetic basis of complex traits. Nat Genet (2012) 4.11
PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis. Am J Hum Genet (2005) 3.95
Multiple independent loci at chromosome 15q25.1 affect smoking quantity: a meta-analysis and comparison with lung cancer and COPD. PLoS Genet (2010) 3.91
Ignoring linkage disequilibrium among tightly linked markers induces false-positive evidence of linkage for affected sib pair analysis. Am J Hum Genet (2004) 3.83
Human mutation rate associated with DNA replication timing. Nat Genet (2009) 3.81
Characterization of BRCA1 and BRCA2 mutations in a large United States sample. J Clin Oncol (2006) 3.73
Screening the genome for rheumatoid arthritis susceptibility genes: a replication study and combined analysis of 512 multicase families. Arthritis Rheum (2003) 3.73
Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. N Engl J Med (2009) 3.70
Detectable clonal mosaicism and its relationship to aging and cancer. Nat Genet (2012) 3.69
The CHRNA5-A3 region on chromosome 15q24-25.1 is a risk factor both for nicotine dependence and for lung cancer. J Natl Cancer Inst (2008) 3.67
Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. Nat Genet (2009) 3.52
Genetic variants and risk of lung cancer in never smokers: a genome-wide association study. Lancet Oncol (2010) 3.49
Searching for missing heritability: designing rare variant association studies. Proc Natl Acad Sci U S A (2014) 3.47
Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease. Nat Genet (2010) 3.24
Genome sequencing reveals insights into physiology and longevity of the naked mole rat. Nature (2011) 3.19
Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium. J Natl Cancer Inst (2010) 3.18
Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. Nat Genet (2010) 3.15
Clinical and pathologic characteristics of patients with BRCA-positive and BRCA-negative breast cancer. J Clin Oncol (2008) 3.09
Gene and pathway-based second-wave analysis of genome-wide association studies. Eur J Hum Genet (2010) 3.03
Effects of nativity, age at migration, and acculturation on smoking among adult Houston residents of Mexican descent. Am J Public Health (2005) 2.94
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. Nature (2010) 2.85
Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer. Nat Genet (2009) 2.76
Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study. Cancer Res (2009) 2.63
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. Nat Genet (2010) 2.61
Transforming epidemiology for 21st century medicine and public health. Cancer Epidemiol Biomarkers Prev (2013) 2.56
Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk. Am J Hum Genet (2003) 2.52
Dissecting the genetic complexity of the association between human leukocyte antigens and rheumatoid arthritis. Am J Hum Genet (2002) 2.47
Multiplex padlock targeted sequencing reveals human hypermutable CpG variations. Genome Res (2009) 2.38
DNA repair capacity in peripheral lymphocytes predicts survival of patients with non-small-cell lung cancer treated with first-line platinum-based chemotherapy. J Clin Oncol (2011) 2.34
Differential relationship of DNA replication timing to different forms of human mutation and variation. Am J Hum Genet (2012) 2.33
Genome-wide association study identifies three new melanoma susceptibility loci. Nat Genet (2011) 2.29
Common single-nucleotide polymorphisms act in concert to affect plasma levels of high-density lipoprotein cholesterol. Am J Hum Genet (2007) 2.28
Birthplace, years of residence in the United States, and obesity among Mexican-American adults. Obesity (Silver Spring) (2007) 2.28
Bias in estimates of quantitative-trait-locus effect in genome scans: demonstration of the phenomenon and a method-of-moments procedure for reducing bias. Am J Hum Genet (2002) 2.25
Progress in chemoprevention drug development: the promise of molecular biomarkers for prevention of intraepithelial neoplasia and cancer--a plan to move forward. Clin Cancer Res (2006) 2.24
Impact of deleterious passenger mutations on cancer progression. Proc Natl Acad Sci U S A (2013) 2.23
Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes. Am J Hum Genet (2006) 2.22
Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis. Arthritis Rheum (2013) 2.17
Mitochondrial DNA content: its genetic heritability and association with renal cell carcinoma. J Natl Cancer Inst (2008) 2.17
Genetic variants on 15q25.1, smoking, and lung cancer: an assessment of mediation and interaction. Am J Epidemiol (2012) 2.16
Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer. J Natl Cancer Inst (2008) 2.15
Extension of variance components approach to incorporate temporal trends and longitudinal pedigree data analysis. Genet Epidemiol (2002) 2.14
Body mass index and risk of lung cancer among never, former, and current smokers. J Natl Cancer Inst (2012) 2.13
Genetic susceptibility to lung cancer: the role of DNA damage and repair. Cancer Epidemiol Biomarkers Prev (2003) 2.09
Underestimation of risk of a BRCA1 or BRCA2 mutation in women with high-grade serous ovarian cancer by BRCAPRO: a multi-institution study. J Clin Oncol (2014) 2.05
An expanded risk prediction model for lung cancer. Cancer Prev Res (Phila) (2008) 2.05
Dietary phytoestrogens and lung cancer risk. JAMA (2005) 2.04
Development of common data elements: the experience of and recommendations from the early detection research network. Int J Med Inform (2003) 2.04
Clustering of disease features within 512 multicase rheumatoid arthritis families. Arthritis Rheum (2004) 2.00
Relationship between CYP2A6 and CHRNA5-CHRNA3-CHRNB4 variation and smoking behaviors and lung cancer risk. J Natl Cancer Inst (2011) 1.97
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
Validity of models for predicting BRCA1 and BRCA2 mutations. Ann Intern Med (2007) 1.94
EGFR-T790M is a rare lung cancer susceptibility allele with enhanced kinase activity. Cancer Res (2007) 1.91
Inherited variation at chromosome 12p13.33, including RAD52, influences the risk of squamous cell lung carcinoma. Cancer Discov (2011) 1.87
Forward-time simulations of human populations with complex diseases. PLoS Genet (2007) 1.87
A novel polymorphism in human cytosine DNA-methyltransferase-3B promoter is associated with an increased risk of lung cancer. Cancer Res (2002) 1.87
A genome-wide association study identifies a locus on chromosome 14q21 as a predictor of leukocyte telomere length and as a marker of susceptibility for bladder cancer. Cancer Prev Res (Phila) (2011) 1.86
Large-scale identification and evolution indexing of tyrosine phosphorylation sites from murine brain. J Proteome Res (2007) 1.85
Fine mapping of chromosome 6q23-25 region in familial lung cancer families reveals RGS17 as a likely candidate gene. Clin Cancer Res (2009) 1.83
A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. Nat Genet (2013) 1.82