Published in Curr Opin Genet Dev on June 01, 2010
Beyond missing heritability: prediction of complex traits. PLoS Genet (2011) 3.39
Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes. Gut (2012) 1.39
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. PLoS One (2014) 1.14
Rare TP53 genetic variant associated with glioma risk and outcome. J Med Genet (2012) 1.07
Patterns and functional implications of rare germline variants across 12 cancer types. Nat Commun (2015) 1.02
Human genetics and genomics a decade after the release of the draft sequence of the human genome. Hum Genomics (2011) 0.95
Ultra-rare mutation in long-range enhancer predisposes to thyroid carcinoma with high penetrance. PLoS One (2013) 0.88
Susceptibility to leprosy is associated with M-ficolin polymorphisms. J Clin Immunol (2012) 0.82
The genetics of breast cancer: risk factors for disease. Appl Clin Genet (2011) 0.81
A novel method to detect rare variants using both family and unrelated case-control data. BMC Proc (2011) 0.80
Excess congenital non-synonymous variation in leukemia-associated genes in MLL- infant leukemia: a Children's Oncology Group report. Leukemia (2013) 0.80
BRCA1 and BRCA2 mutations and female fertility. Curr Opin Obstet Gynecol (2013) 0.79
Identification of rare genetic variants in novel loci associated with Paget's disease of bone. Hum Genet (2013) 0.78
The -159C/T polymorphism in the CD14 gene and cancer risk: a meta-analysis. Onco Targets Ther (2013) 0.78
Genetic variation and its role in malignancy. Int J Biomed Sci (2011) 0.77
Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles. World J Gastroenterol (2014) 0.77
Genetic and functional profiling of Crohn's disease: autophagy mechanism and susceptibility to infectious diseases. Biomed Res Int (2013) 0.76
Oncodomains: A protein domain-centric framework for analyzing rare variants in tumor samples. PLoS Comput Biol (2017) 0.75
Exome Sequencing in a Family with Luminal-Type Breast Cancer Underpinned by Variation in the Methylation Pathway. Int J Mol Sci (2017) 0.75
Regional heritability mapping method helps explain missing heritability of blood lipid traits in isolated populations. Heredity (Edinb) (2015) 0.75
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet (2012) 6.25
A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nat Genet (2007) 6.02
The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling. Nat Genet (2009) 5.65
The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet (2012) 4.87
Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet (2010) 4.51
A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat Genet (2009) 4.38
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
Genetic prognostic and predictive markers in colorectal cancer. Nat Rev Cancer (2009) 3.99
Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nat Genet (2007) 3.93
A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet (2010) 3.86
Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet (2013) 3.81
A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat Genet (2011) 3.37
Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet (2012) 3.20
CCAT2, a novel noncoding RNA mapping to 8q24, underlies metastatic progression and chromosomal instability in colon cancer. Genome Res (2013) 2.57
Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation. Nat Med (2009) 2.51
Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am J Hum Genet (2013) 2.24
CDC4 mutations occur in a subset of colorectal cancers but are not predicted to cause loss of function and are not associated with chromosomal instability. Cancer Res (2005) 2.19
Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta-analysis. J Clin Oncol (2014) 2.17
Putative direct and indirect Wnt targets identified through consistent gene expression changes in APC-mutant intestinal adenomas from humans and mice. Hum Mol Genet (2008) 2.00
MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. Gastroenterology (2005) 1.94
SDH mutations in cancer. Biochim Biophys Acta (2011) 1.92
Genome-wide association study identifies a common variant associated with risk of endometrial cancer. Nat Genet (2011) 1.84
Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14 704 first-degree relatives. Hum Mol Genet (2006) 1.84
Severe polyposis in Apc(1322T) mice is associated with submaximal Wnt signalling and increased expression of the stem cell marker Lgr5. Gut (2010) 1.84
Targeting cell surface receptors with ligand-conjugated nanocrystals. J Am Chem Soc (2002) 1.82
19p13.1 is a triple-negative-specific breast cancer susceptibility locus. Cancer Res (2012) 1.81
Prognostic and predictive biomarkers in resected colon cancer: current status and future perspectives for integrating genomics into biomarker discovery. Oncologist (2010) 1.72
Common breast cancer susceptibility loci are associated with triple-negative breast cancer. Cancer Res (2011) 1.65
FBXW7 influences murine intestinal homeostasis and cancer, targeting Notch, Jun, and DEK for degradation. J Exp Med (2011) 1.62
E-cadherin/catenin complex status in solid pseudopapillary tumor of the pancreas. Am J Surg Pathol (2008) 1.60
Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium. Hum Mol Genet (2011) 1.56
The TGFBR1*6A/9A polymorphism is not associated with differential risk of breast cancer. Breast Cancer Res Treat (2009) 1.55
Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus. Nat Genet (2012) 1.52
Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals. Gut (2012) 1.52
CDC4/FBXW7 and the 'just enough' model of tumourigenesis. J Pathol (2012) 1.50
F-box and WD repeat domain-containing 7 regulates intestinal cell lineage commitment and is a haploinsufficient tumor suppressor. Gastroenterology (2010) 1.49
Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers. J Pathol (2013) 1.49
Cancer: evolution within a lifetime. Annu Rev Genet (2014) 1.44
Thyroid cancer susceptibility polymorphisms: confirmation of loci on chromosomes 9q22 and 14q13, validation of a recessive 8q24 locus and failure to replicate a locus on 5q24. J Med Genet (2012) 1.44
Evidence for a colorectal cancer susceptibility locus on chromosome 3q21-q24 from a high-density SNP genome-wide linkage scan. Hum Mol Genet (2006) 1.42
Enrichment of low penetrance susceptibility loci in a Dutch familial colorectal cancer cohort. Cancer Epidemiol Biomarkers Prev (2009) 1.40
Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1. Am J Hum Genet (2013) 1.39
An update on the genetics of colorectal cancer. Hum Mol Genet (2004) 1.39
Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients. Am J Pathol (2003) 1.38
Relationship of extreme chromosomal instability with long-term survival in a retrospective analysis of primary breast cancer. Cancer Epidemiol Biomarkers Prev (2011) 1.38
Evidence of linkage to chromosome 9q22.33 in colorectal cancer kindreds from the United Kingdom. Cancer Res (2006) 1.37
The genetics of FAP and FAP-like syndromes. Fam Cancer (2006) 1.34
Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes. Hum Mol Genet (2011) 1.33
The Apc 1322T mouse develops severe polyposis associated with submaximal nuclear beta-catenin expression. Gastroenterology (2009) 1.28
11q13 is a susceptibility locus for hormone receptor positive breast cancer. Hum Mutat (2012) 1.26
Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome. J Pathol (2005) 1.26
Selection of large diversities of antiidiotypic antibody fragments by phage display. J Mol Biol (2002) 1.25
Screen for IDH1, IDH2, IDH3, D2HGDH and L2HGDH mutations in glioblastoma. PLoS One (2011) 1.24
Chromosomal instability, colorectal cancer and taxane resistance. Cell Cycle (2006) 1.24
Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer. Cancer Epidemiol Biomarkers Prev (2011) 1.23
Mutation cluster region, association between germline and somatic mutations and genotype-phenotype correlation in upper gastrointestinal familial adenomatous polyposis. Am J Pathol (2002) 1.22
LKB1 regulates polarity remodeling and adherens junction formation in the Drosophila eye. Proc Natl Acad Sci U S A (2009) 1.20
Colorectal cancer risk is not associated with increased levels of homozygosity in a population from the United Kingdom. Cancer Res (2009) 1.19
Low-level microsatellite instability occurs in most colorectal cancers and is a nonrandomly distributed quantitative trait. Cancer Res (2002) 1.17
Comprehensive assessment of variation at the transforming growth factor beta type 1 receptor locus and colorectal cancer predisposition. Proc Natl Acad Sci U S A (2010) 1.16
Much of the genetic risk of colorectal cancer is likely to be mediated through susceptibility to adenomas. Gastroenterology (2012) 1.15
General lessons from large-scale studies to identify human cancer predisposition genes. J Pathol (2010) 1.15
Refining molecular analysis in the pathways of colorectal carcinogenesis. Clin Gastroenterol Hepatol (2005) 1.14
Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC). PLoS One (2012) 1.13
Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer. Oncogene (2002) 1.13
Deciphering the genetics of hereditary non-syndromic colorectal cancer. Eur J Hum Genet (2008) 1.13
Human domain antibodies against virulence traits of Candida albicans inhibit fungus adherence to vaginal epithelium and protect against experimental vaginal candidiasis. J Infect Dis (2006) 1.11
Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. Fam Cancer (2014) 1.09
Use of multivariate analysis to suggest a new molecular classification of colorectal cancer. J Pathol (2013) 1.09
Expression profiling in progressive stages of fumarate-hydratase deficiency: the contribution of metabolic changes to tumorigenesis. Cancer Res (2010) 1.05
Common variation at the adiponectin locus is not associated with colorectal cancer risk in the UK. Hum Mol Genet (2009) 1.03
Low penetrance breast cancer predisposition SNPs are site specific. Breast Cancer Res Treat (2008) 1.03
Genome-wide association study identifies a possible susceptibility locus for endometrial cancer. Cancer Epidemiol Biomarkers Prev (2012) 1.02
A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium. Hum Mol Genet (2013) 1.00
Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer. Gastroenterology (2006) 0.98
Cyclin D1 is not an essential target of beta-catenin signaling during intestinal tumorigenesis, but it may act as a modifier of disease severity in multiple intestinal neoplasia (Min) mice. Cancer Res (2002) 0.96
Prognostic and therapeutic impact of argininosuccinate synthetase 1 control in bladder cancer as monitored longitudinally by PET imaging. Cancer Res (2013) 0.96
9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium. Cancer Epidemiol Biomarkers Prev (2012) 0.95
Allelic imbalance analysis of chromosome 16q shows that grade I and grade III invasive ductal breast cancers follow different genetic pathways. J Pathol (2002) 0.95
The multiple colorectal adenoma phenotype and MYH, a base excision repair gene. Clin Gastroenterol Hepatol (2004) 0.95
Heritability and coefficient of genetic variation analyses of phenotypic traits provide strong basis for high-resolution QTL mapping in the Collaborative Cross mouse genetic reference population. Mamm Genome (2014) 0.94
Genomic stability and tumorigenesis. Semin Cancer Biol (2005) 0.94
Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome. BMC Genomics (2005) 0.93
Genetic basis of variation in adenoma multiplicity in ApcMin/+ Mom1S mice. Proc Natl Acad Sci U S A (2005) 0.93
Oral rapamycin reduces tumour burden and vascularization in Lkb1(+/-) mice. J Pathol (2009) 0.93
APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'. Hum Mol Genet (2006) 0.92
Mutations within Wnt pathway genes in sporadic colorectal cancers and cell lines. Int J Cancer (2006) 0.90
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. J Natl Cancer Inst (2015) 0.90
Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk. Hum Genet (2014) 0.89
FBXW7 mutations typically found in human cancers are distinct from null alleles and disrupt lung development. J Pathol (2011) 0.89
The in vivo rate of somatic adenomatous polyposis coli mutation. Am J Pathol (2008) 0.88
Nuclear beta-catenin expression and Wnt signalling: in defence of the dogma. J Pathol (2010) 0.88
BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations. Carcinogenesis (2012) 0.86
Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis. Dermatology (2010) 0.85
Novel MLH1 duplication identified in Colombian families with Lynch syndrome. Genet Med (2011) 0.84
A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk. Eur J Hum Genet (2009) 0.84
Cells lacking the fumarase tumor suppressor are protected from apoptosis through a hypoxia-inducible factor-independent, AMPK-dependent mechanism. Mol Cell Biol (2012) 0.83
A novel exon duplication event leading to a truncating germ-line mutation of the APC gene in a familial adenomatous polyposis family. Fam Cancer (2006) 0.83