Published in Nature on June 28, 2007
A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet (2007) 22.96
A HapMap harvest of insights into the genetics of common disease. J Clin Invest (2008) 18.31
Variance component model to account for sample structure in genome-wide association studies. Nat Genet (2010) 15.52
Genetic mapping in human disease. Science (2008) 15.12
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet (2007) 12.62
Detecting gene-gene interactions that underlie human diseases. Nat Rev Genet (2009) 12.07
Estimation of effect size distribution from genome-wide association studies and implications for future discoveries. Nat Genet (2010) 9.07
Fibroblast growth factor signalling: from development to cancer. Nat Rev Cancer (2010) 8.55
Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet (2009) 8.44
A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet (2009) 8.39
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24
Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet (2010) 7.62
Genome-wide association study identifies five susceptibility loci for glioma. Nat Genet (2009) 7.62
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet (2009) 7.30
Parental origin of sequence variants associated with complex diseases. Nature (2009) 7.21
Linkage disequilibrium--understanding the evolutionary past and mapping the medical future. Nat Rev Genet (2008) 7.08
Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat Genet (2009) 6.91
Whole-genome association study of bipolar disorder. Mol Psychiatry (2008) 6.80
Sequence variant on 8q24 confers susceptibility to urinary bladder cancer. Nat Genet (2008) 6.69
Powerful SNP-set analysis for case-control genome-wide association studies. Am J Hum Genet (2010) 6.60
Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet (2008) 6.22
Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. Nat Genet (2009) 6.04
Genetic architectures of psychiatric disorders: the emerging picture and its implications. Nat Rev Genet (2012) 5.99
Multiple loci with different cancer specificities within the 8q24 gene desert. J Natl Cancer Inst (2008) 5.82
Performance of common genetic variants in breast-cancer risk models. N Engl J Med (2010) 5.79
Revealing the architecture of gene regulation: the promise of eQTL studies. Trends Genet (2008) 5.78
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat (2008) 5.52
Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. Nat Genet (2009) 5.43
Dynamic modularity in protein interaction networks predicts breast cancer outcome. Nat Biotechnol (2009) 5.41
Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines. PLoS Genet (2008) 5.08
Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility. Nat Genet (2009) 5.06
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet (2010) 4.96
Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. Proc Natl Acad Sci U S A (2008) 4.76
Validating, augmenting and refining genome-wide association signals. Nat Rev Genet (2009) 4.56
Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies. J Natl Cancer Inst (2010) 4.54
Size matters: just how big is BIG?: Quantifying realistic sample size requirements for human genome epidemiology. Int J Epidemiol (2008) 4.53
Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk. J Natl Cancer Inst (2008) 4.52
Bioinformatics challenges for genome-wide association studies. Bioinformatics (2010) 4.45
A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat Genet (2009) 4.38
Gene-environment interaction in genome-wide association studies. Am J Epidemiol (2008) 3.96
Multiple loci on 8q24 associated with prostate cancer susceptibility. Nat Genet (2009) 3.94
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. Nat Genet (2010) 3.93
Methods for meta-analysis in genetic association studies: a review of their potential and pitfalls. Hum Genet (2007) 3.92
FGFR1 amplification drives endocrine therapy resistance and is a therapeutic target in breast cancer. Cancer Res (2010) 3.89
The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer (2008) 3.87
Accommodating linkage disequilibrium in genetic-association analyses via ridge regression. Am J Hum Genet (2008) 3.86
Systems medicine: the future of medical genomics and healthcare. Genome Med (2009) 3.85
Identification of a new prostate cancer susceptibility locus on chromosome 8q24. Nat Genet (2009) 3.76
Principles for the post-GWAS functional characterization of cancer risk loci. Nat Genet (2011) 3.73
Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA. PLoS Genet (2011) 3.65
Functional enhancers at the gene-poor 8q24 cancer-linked locus. PLoS Genet (2009) 3.59
Genetic variants of miRNA sequences and non-small cell lung cancer survival. J Clin Invest (2008) 3.53
Epistasis and its implications for personal genetics. Am J Hum Genet (2009) 3.52
Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer. PLoS Biol (2008) 3.49
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet (2008) 3.41
8q24 prostate, breast, and colon cancer risk loci show tissue-specific long-range interaction with MYC. Proc Natl Acad Sci U S A (2010) 3.37
A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat Genet (2011) 3.37
p53 polymorphisms: cancer implications. Nat Rev Cancer (2009) 3.33
Breast cancer: origins and evolution. J Clin Invest (2007) 3.31
Drug-sensitive FGFR2 mutations in endometrial carcinoma. Proc Natl Acad Sci U S A (2008) 3.30
Variation of breast cancer risk among BRCA1/2 carriers. JAMA (2008) 3.30
Power to detect risk alleles using genome-wide tag SNP panels. PLoS Genet (2007) 3.29
Variation near complement factor I is associated with risk of advanced AMD. Eur J Hum Genet (2008) 3.29
JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. Nat Genet (2009) 3.21
Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet (2012) 3.20
Addictions biology: haplotype-based analysis for 130 candidate genes on a single array. Alcohol Alcohol (2008) 3.13
Bias-reduced estimators and confidence intervals for odds ratios in genome-wide association studies. Biostatistics (2008) 3.09
Multiple novel prostate cancer predisposition loci confirmed by an international study: the PRACTICAL Consortium. Cancer Epidemiol Biomarkers Prev (2008) 3.05
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. Nat Genet (2015) 3.02
Beyond odds ratios--communicating disease risk based on genetic profiles. Nat Rev Genet (2009) 3.01
Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. J Natl Cancer Inst (2009) 2.88
Breast cancer risk-associated SNPs modulate the affinity of chromatin for FOXA1 and alter gene expression. Nat Genet (2012) 2.86
Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Lancet Oncol (2011) 2.85
Increasing the power of identifying gene x gene interactions in genome-wide association studies. Genet Epidemiol (2008) 2.84
Single-nucleotide polymorphisms inside microRNA target sites influence tumor susceptibility. Cancer Res (2010) 2.82
Assessment of clinical validity of a breast cancer risk model combining genetic and clinical information. J Natl Cancer Inst (2010) 2.82
Upregulation of c-MYC in cis through a large chromatin loop linked to a cancer risk-associated single-nucleotide polymorphism in colorectal cancer cells. Mol Cell Biol (2010) 2.80
Association of common genetic variation in the insulin/IGF1 signaling pathway with human longevity. Aging Cell (2009) 2.79
Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer. Nat Genet (2009) 2.76
Genetic susceptibility to cancer: the role of polymorphisms in candidate genes. JAMA (2008) 2.73
Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet (2011) 2.72
FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation. Hum Mol Genet (2009) 2.62
Genome-wide association scans for secondary traits using case-control samples. Genet Epidemiol (2009) 2.55
Prediction of breast cancer risk based on profiling with common genetic variants. J Natl Cancer Inst (2015) 2.54
Evaluation of the 8q24 prostate cancer risk locus and MYC expression. Cancer Res (2009) 2.54
Long-range enhancers on 8q24 regulate c-Myc. Proc Natl Acad Sci U S A (2010) 2.54
Genetic susceptibility to breast cancer. Mol Oncol (2010) 2.52
Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study. Lancet (2010) 2.51
Androgen receptor is a tumor suppressor and proliferator in prostate cancer. Proc Natl Acad Sci U S A (2008) 2.47
Common variations in BARD1 influence susceptibility to high-risk neuroblastoma. Nat Genet (2009) 2.47
An MCMC algorithm for haplotype assembly from whole-genome sequence data. Genome Res (2008) 2.45
Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk. Nat Genet (2010) 2.45
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. J Neural Transm (Vienna) (2008) 2.43
Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers. Hum Genet (2008) 2.41
STrengthening the REporting of Genetic Association Studies (STREGA): an extension of the STROBE statement. PLoS Med (2009) 2.39
What can genome-wide association studies tell us about the genetics of common disease? PLoS Genet (2008) 2.35
Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies. PLoS Genet (2007) 2.32
Enrichment of sequencing targets from the human genome by solution hybridization. Genome Biol (2009) 2.32
A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer. Nat Genet (2012) 2.29
Polygenic susceptibility to prostate and breast cancer: implications for personalised screening. Br J Cancer (2011) 2.28
A haplotype map of the human genome. Nature (2005) 105.70
Genomic control for association studies. Biometrics (1999) 64.39
The Ensembl genome database project. Nucleic Acids Res (2002) 40.87
Patterns of somatic mutation in human cancer genomes. Nature (2007) 38.41
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science (1994) 36.53
Efficiency and power in genetic association studies. Nat Genet (2005) 25.56
Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet (2001) 22.07
Whole-genome patterns of common DNA variation in three human populations. Science (2005) 21.22
Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. Nat Genet (2007) 21.18
Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat Genet (2007) 19.18
Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet (2003) 18.67
Identification of the breast cancer susceptibility gene BRCA2. Nature (1996) 17.14
Comprehensive human genome amplification using multiple displacement amplification. Proc Natl Acad Sci U S A (2002) 13.58
A common variant associated with prostate cancer in European and African populations. Nat Genet (2006) 13.47
Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet (2002) 9.71
EPIC-Norfolk: study design and characteristics of the cohort. European Prospective Investigation of Cancer. Br J Cancer (1999) 9.68
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet (2006) 9.17
Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet (2002) 8.89
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet (2006) 7.72
Variation is the spice of life. Nat Genet (2001) 7.62
A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet (2007) 7.35
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet (2006) 6.67
Commonly studied single-nucleotide polymorphisms and breast cancer: results from the Breast Cancer Association Consortium. J Natl Cancer Inst (2006) 5.60
Polygenic inheritance of breast cancer: Implications for design of association studies. Genet Epidemiol (2003) 4.94
A recurrent mutation in PALB2 in Finnish cancer families. Nature (2007) 4.64
The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br J Cancer (2004) 4.06
CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet (2004) 3.97
Recent developments in genomewide association scans: a workshop summary and review. Am J Hum Genet (2005) 3.76
Two-stage designs for gene-disease association studies. Biometrics (2002) 3.67
How many more breast cancer predisposition genes are there? Breast Cancer Res (1999) 3.10
Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst (2005) 3.09
BEK and FLG, two receptors to members of the FGF family, are amplified in subsets of human breast cancers. Oncogene (1991) 2.89
Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers. Cancer Res (2001) 2.77
A genome wide linkage search for breast cancer susceptibility genes. Genes Chromosomes Cancer (2006) 2.35
PReMod: a database of genome-wide mammalian cis-regulatory module predictions. Nucleic Acids Res (2006) 2.27
Transforming potential of alternatively spliced variants of fibroblast growth factor receptor 2 in human mammary epithelial cells. Mol Cancer Res (2004) 2.06
The admixture maximum likelihood test: a novel experiment-wise test of association between disease and multiple SNPs. Genet Epidemiol (2006) 2.06
Allelic association of the human homologue of the mouse modifier Ptprj with breast cancer. Hum Mol Genet (2005) 2.05
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Mutations of the BRAF gene in human cancer. Nature (2002) 65.42
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet (2008) 43.63
Rosuvastatin to prevent vascular events in men and women with elevated C-reactive protein. N Engl J Med (2008) 43.36
Patterns of somatic mutation in human cancer genomes. Nature (2007) 38.41
The genomic landscapes of human breast and colorectal cancers. Science (2007) 38.12
A census of human cancer genes. Nat Rev Cancer (2004) 36.20
Gene-expression profiles to predict distant metastasis of lymph-node-negative primary breast cancer. Lancet (2005) 29.45
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res (2010) 25.55
A comprehensive catalogue of somatic mutations from a human cancer genome. Nature (2009) 24.27
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet (2007) 22.96
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Signatures of mutational processes in human cancer. Nature (2013) 21.63
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science (2009) 21.24
Whole-genome patterns of common DNA variation in three human populations. Science (2005) 21.22
Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. Nat Genet (2007) 21.18
A common allele on chromosome 9 associated with coronary heart disease. Science (2007) 20.37
International network of cancer genome projects. Nature (2010) 20.35
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Assessing the probability that a positive report is false: an approach for molecular epidemiology studies. J Natl Cancer Inst (2004) 19.00
A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature (2009) 18.39
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Multiple loci identified in a genome-wide association study of prostate cancer. Nat Genet (2008) 17.65
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell (2011) 16.72
Identification of ten loci associated with height highlights new biological pathways in human growth. Nat Genet (2008) 16.25
Replicating genotype-phenotype associations. Nature (2007) 16.11
A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25. Nature (2008) 16.10
Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet (2008) 15.94
Systematic identification of genomic markers of drug sensitivity in cancer cells. Nature (2012) 15.91
A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet (2006) 15.63
Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci U S A (2005) 15.46
Multiple newly identified loci associated with prostate cancer susceptibility. Nat Genet (2008) 15.43
Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Nature (2010) 14.50
Multiple regions within 8q24 independently affect risk for prostate cancer. Nat Genet (2007) 14.37
Risk of ischemic heart disease in women after radiotherapy for breast cancer. N Engl J Med (2013) 13.92
An expression signature for p53 status in human breast cancer predicts mutation status, transcriptional effects, and patient survival. Proc Natl Acad Sci U S A (2005) 13.54
Complex landscapes of somatic rearrangement in human breast cancer genomes. Nature (2009) 13.45
Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature (2011) 13.30
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature (2011) 13.18
Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs. Hum Mol Genet (2006) 13.16
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet (2007) 12.62
Statistics in medicine--reporting of subgroup analyses in clinical trials. N Engl J Med (2007) 12.55
The patterns and dynamics of genomic instability in metastatic pancreatic cancer. Nature (2010) 12.43
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat Genet (2007) 11.62
Genome-wide association study of blood pressure and hypertension. Nat Genet (2009) 11.54
The landscape of cancer genes and mutational processes in breast cancer. Nature (2012) 11.24
Mutational processes molding the genomes of 21 breast cancers. Cell (2012) 11.22
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
Aberrant luminal progenitors as the candidate target population for basal tumor development in BRCA1 mutation carriers. Nat Med (2009) 10.88
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet (2007) 10.81
The life history of 21 breast cancers. Cell (2012) 10.59
Deletion of IKZF1 and prognosis in acute lymphoblastic leukemia. N Engl J Med (2009) 10.54
Reduction in C-reactive protein and LDL cholesterol and cardiovascular event rates after initiation of rosuvastatin: a prospective study of the JUPITER trial. Lancet (2009) 10.52