Ian Tomlinson

Author PubWeight™ 193.86‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 2013 8.24
2 Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 2012 6.25
3 A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nat Genet 2007 6.02
4 The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling. Nat Genet 2009 5.65
5 The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet 2012 4.87
6 Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet 2010 4.51
7 A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat Genet 2009 4.38
8 Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet 2013 4.35
9 Genetic prognostic and predictive markers in colorectal cancer. Nat Rev Cancer 2009 3.99
10 Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nat Genet 2007 3.93
11 A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet 2010 3.86
12 Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet 2013 3.81
13 A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat Genet 2011 3.37
14 Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet 2012 3.20
15 CCAT2, a novel noncoding RNA mapping to 8q24, underlies metastatic progression and chromosomal instability in colon cancer. Genome Res 2013 2.57
16 Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation. Nat Med 2009 2.51
17 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
18 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
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
20 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
21 MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. Gastroenterology 2005 1.94
22 SDH mutations in cancer. Biochim Biophys Acta 2011 1.92
23 Genome-wide association study identifies a common variant associated with risk of endometrial cancer. Nat Genet 2011 1.84
24 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
25 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
26 Targeting cell surface receptors with ligand-conjugated nanocrystals. J Am Chem Soc 2002 1.82
27 19p13.1 is a triple-negative-specific breast cancer susceptibility locus. Cancer Res 2012 1.81
28 Prognostic and predictive biomarkers in resected colon cancer: current status and future perspectives for integrating genomics into biomarker discovery. Oncologist 2010 1.72
29 Common breast cancer susceptibility loci are associated with triple-negative breast cancer. Cancer Res 2011 1.65
30 Investigation of the atypical FBXW7 mutation spectrum in human tumours by conditional expression of a heterozygous propellor tip missense allele in the mouse intestines. Gut 2013 1.63
31 FBXW7 influences murine intestinal homeostasis and cancer, targeting Notch, Jun, and DEK for degradation. J Exp Med 2011 1.62
32 E-cadherin/catenin complex status in solid pseudopapillary tumor of the pancreas. Am J Surg Pathol 2008 1.60
33 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
34 The TGFBR1*6A/9A polymorphism is not associated with differential risk of breast cancer. Breast Cancer Res Treat 2009 1.55
35 Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus. Nat Genet 2012 1.52
36 Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals. Gut 2012 1.52
37 CDC4/FBXW7 and the 'just enough' model of tumourigenesis. J Pathol 2012 1.50
38 F-box and WD repeat domain-containing 7 regulates intestinal cell lineage commitment and is a haploinsufficient tumor suppressor. Gastroenterology 2010 1.49
39 Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers. J Pathol 2013 1.49
40 Cancer: evolution within a lifetime. Annu Rev Genet 2014 1.44
41 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
42 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
43 Enrichment of low penetrance susceptibility loci in a Dutch familial colorectal cancer cohort. Cancer Epidemiol Biomarkers Prev 2009 1.40
44 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
45 An update on the genetics of colorectal cancer. Hum Mol Genet 2004 1.39
46 Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients. Am J Pathol 2003 1.38
47 Relationship of extreme chromosomal instability with long-term survival in a retrospective analysis of primary breast cancer. Cancer Epidemiol Biomarkers Prev 2011 1.38
48 Evidence of linkage to chromosome 9q22.33 in colorectal cancer kindreds from the United Kingdom. Cancer Res 2006 1.37
49 The genetics of FAP and FAP-like syndromes. Fam Cancer 2006 1.34
50 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
51 The Apc 1322T mouse develops severe polyposis associated with submaximal nuclear beta-catenin expression. Gastroenterology 2009 1.28
52 Rare genetic variants and the risk of cancer. Curr Opin Genet Dev 2010 1.27
53 11q13 is a susceptibility locus for hormone receptor positive breast cancer. Hum Mutat 2012 1.26
54 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
55 Selection of large diversities of antiidiotypic antibody fragments by phage display. J Mol Biol 2002 1.25
56 Screen for IDH1, IDH2, IDH3, D2HGDH and L2HGDH mutations in glioblastoma. PLoS One 2011 1.24
57 Chromosomal instability, colorectal cancer and taxane resistance. Cell Cycle 2006 1.24
58 Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer. Cancer Epidemiol Biomarkers Prev 2011 1.23
59 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
60 LKB1 regulates polarity remodeling and adherens junction formation in the Drosophila eye. Proc Natl Acad Sci U S A 2009 1.20
61 Colorectal cancer risk is not associated with increased levels of homozygosity in a population from the United Kingdom. Cancer Res 2009 1.19
62 Low-level microsatellite instability occurs in most colorectal cancers and is a nonrandomly distributed quantitative trait. Cancer Res 2002 1.17
63 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
64 Much of the genetic risk of colorectal cancer is likely to be mediated through susceptibility to adenomas. Gastroenterology 2012 1.15
65 General lessons from large-scale studies to identify human cancer predisposition genes. J Pathol 2010 1.15
66 Refining molecular analysis in the pathways of colorectal carcinogenesis. Clin Gastroenterol Hepatol 2005 1.14
67 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
68 Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer. Oncogene 2002 1.13
69 Deciphering the genetics of hereditary non-syndromic colorectal cancer. Eur J Hum Genet 2008 1.13
70 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
71 Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. Fam Cancer 2014 1.09
72 Use of multivariate analysis to suggest a new molecular classification of colorectal cancer. J Pathol 2013 1.09
73 Expression profiling in progressive stages of fumarate-hydratase deficiency: the contribution of metabolic changes to tumorigenesis. Cancer Res 2010 1.05
74 Common variation at the adiponectin locus is not associated with colorectal cancer risk in the UK. Hum Mol Genet 2009 1.03
75 Low penetrance breast cancer predisposition SNPs are site specific. Breast Cancer Res Treat 2008 1.03
76 Genome-wide association study identifies a possible susceptibility locus for endometrial cancer. Cancer Epidemiol Biomarkers Prev 2012 1.02
77 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
78 Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer. Gastroenterology 2006 0.98
79 Prognostic and therapeutic impact of argininosuccinate synthetase 1 control in bladder cancer as monitored longitudinally by PET imaging. Cancer Res 2013 0.96
80 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
81 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
82 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
83 The multiple colorectal adenoma phenotype and MYH, a base excision repair gene. Clin Gastroenterol Hepatol 2004 0.95
84 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
85 Genomic stability and tumorigenesis. Semin Cancer Biol 2005 0.94
86 Genetic basis of variation in adenoma multiplicity in ApcMin/+ Mom1S mice. Proc Natl Acad Sci U S A 2005 0.93
87 Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome. BMC Genomics 2005 0.93
88 Oral rapamycin reduces tumour burden and vascularization in Lkb1(+/-) mice. J Pathol 2009 0.93
89 APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'. Hum Mol Genet 2006 0.92
90 Mutations within Wnt pathway genes in sporadic colorectal cancers and cell lines. Int J Cancer 2006 0.90
91 BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. J Natl Cancer Inst 2015 0.90
92 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
93 FBXW7 mutations typically found in human cancers are distinct from null alleles and disrupt lung development. J Pathol 2011 0.89
94 The in vivo rate of somatic adenomatous polyposis coli mutation. Am J Pathol 2008 0.88
95 Nuclear beta-catenin expression and Wnt signalling: in defence of the dogma. J Pathol 2010 0.88
96 BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations. Carcinogenesis 2012 0.86
97 Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis. Dermatology 2010 0.85
98 Novel MLH1 duplication identified in Colombian families with Lynch syndrome. Genet Med 2011 0.84
99 A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk. Eur J Hum Genet 2009 0.84
100 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
101 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
102 C-ANCA positive systemic vasculitis in a patient with rheumatoid arthritis treated with infliximab. Clin Rheumatol 2007 0.82
103 Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility. PLoS One 2013 0.82
104 Colorectal tumourigenesis in carriers of the APC I1307K variant: lone gunman or conspiracy? J Pathol 2003 0.82
105 A family with juvenile polyposis linked to the BMPR1A locus: cryptic mutation or closely linked gene? J Gastroenterol Hepatol 2007 0.81
106 A mitotic recombination map proximal to the APC locus on chromosome 5q and assessment of influences on colorectal cancer risk. BMC Med Genet 2009 0.81
107 Cancer. The utility of mouse models in post-GWAS research. Science 2012 0.81
108 Polymorphisms in inflammation pathway genes and endometrial cancer risk. Cancer Epidemiol Biomarkers Prev 2012 0.81
109 Genome-wide allelotyping of 104 Finnish colorectal cancers reveals an excess of allelic imbalance in chromosome 20q in familial cases. Oncogene 2003 0.80
110 Reply to "The classification of intestinal polyposis". Nat Genet 2013 0.80
111 Germline variants and advanced colorectal adenomas: adenoma prevention with celecoxib trial genome-wide association study. Clin Cancer Res 2013 0.80
112 Pregnancy does not influence colonic polyp multiplicity but may modulate upper gastrointestinal disease in patients with FAP. J Med Genet 2007 0.80
113 The C-terminus of Apc does not influence intestinal adenoma development or progression. J Pathol 2011 0.79
114 The role of E-cadherin in low-grade ductal breast tumourigenesis. J Pathol 2003 0.79
115 Breast cancer susceptibility polymorphisms and endometrial cancer risk: a Collaborative Endometrial Cancer Study. Carcinogenesis 2011 0.79
116 Expression of EGFR, HER2, phosphorylated ERK and phosphorylated MEK in colonic neoplasms of familial adenomatous polyposis patients. J Gastrointest Cancer 2012 0.78
117 [From genome to proteome--aim of human proteomics]. Seikagaku 2004 0.77
118 Cyclin D-1 protein over-expression is not associated with gene amplification in benign and atypical apocrine lesions of the breast. Pathol Res Pract 2010 0.77
119 Five quantitative trait loci control radiation-induced adenoma multiplicity in Mom1R Apc Min/+ mice. PLoS One 2009 0.76
120 Down-regulation of serum/glucocorticoid regulated kinase 1 in colorectal tumours is largely independent of promoter hypermethylation. PLoS One 2010 0.76
121 Expression Profiling of Proliferation and Apoptotic Markers along the Adenoma-Carcinoma Sequence in Familial Adenomatous Polyposis Patients. Gastroenterol Res Pract 2013 0.75
122 Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet 2015 0.75
123 The continuum model of selection in human tumors: general paradigm or niche product? Cancer Res 2012 0.75
124 Prioritizing rare variants with conditional likelihood ratios. Hum Hered 2015 0.75
125 Clinical manifestations of colorectal cancer patients from a large multicenter study in Colombia. Medicine (Baltimore) 2016 0.75
126 Ian Tomlinson. Nat Rev Drug Discov 2016 0.75
127 High-resolution breakpoint analysis provides evidence for the sequence-directed nature of genome rearrangements in hereditary disorders. Hum Mutat 2015 0.75