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J. Cheadle · SciRah

Researcher profile · Semantic Scholar

J. Cheadle

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J. Cheadle — researcher profile on SciRah

h-index: 53
Works: 135
Citations: 16K

Most-cited papers

Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors
N. Al-Tassan, N. Chmiel, J. Maynard, N. Fleming +7 more
2002Nature Genetics1,339 citations
Semantic Scholar
Addition of cetuximab to oxaliplatin-based first-line combination chemotherapy for treatment of advanced colorectal cancer: results of the randomised phase 3 MRC COIN trial
T. Maughan, Richard A. Adams, Christopher G. Smith, A. Meade +17 more
2011The Lancet946 citations Open access
Semantic Scholar
Mismatch repair status and BRAF mutation status in metastatic colorectal cancer patients: a pooled analysis of the CAIRO, CAIRO2, COIN and FOCUS studies
S. Venderbosch, I. Nagtegaal, T. Maughan, Christopher G. Smith +12 more
2014Clinical Cancer Research691 citations Open access
Semantic Scholar
Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.
J. Sampson, S. Dolwani, Siân Jones, D. Eccles +10 more
2003The Lancet465 citations
Semantic Scholar
Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations.
Siân Jones, Paul Emmerson, J. Maynard, J. Best +4 more
2002Human Molecular Genetics416 citations
Semantic Scholar
Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33
R. Houlston, J. Cheadle, S. Dobbins, A. Tenesa +41 more
2010Nature Genetics405 citations Open access
Semantic Scholar
Tuberous sclerosis complex
Andrew R. Tee, Julian R. Sampson, J. Cheadle, D. M. Davies
2017Nature Reviews Disease Primers386 citations Open access
Semantic Scholar
Cognitive deficits in Tsc1+/−mice in the absence of cerebral lesions and seizures
S. Goorden, Geeske M. van Woerden, L. van der Weerd, J. Cheadle +1 more
2007Annals of Neurology258 citations
Semantic Scholar
Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk
M. Dunlop, S. Dobbins, S. Farrington, A. Jones +60 more
2012Nature Genetics249 citations Open access
Semantic Scholar
Multiple Common Susceptibility Variants near BMP Pathway Loci GREM1, BMP4, and BMP2 Explain Part of the Missing Heritability of Colorectal Cancer
I. Tomlinson, L. Carvajal-Carmona, S. Dobbins, A. Tenesa +49 more
2011PLoS Genetics213 citations Open access
Semantic Scholar
Association analyses identify 31 new risk loci for colorectal cancer susceptibility
P. Law, Maria Timofeeva, C. Fernández-Rozadilla, P. Broderick +155 more
2019Nature Communications205 citations Open access
Semantic Scholar
Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and East Asian ancestries
C. Fernández-Rozadilla, M. Timofeeva, Zhi-Shan Chen, P. Law +206 more
2022Nature Genetics204 citations Open access
Semantic Scholar
Investigating the poor outcomes of BRAF-mutant advanced colorectal cancer: analysis from 2530 patients in randomised clinical trials
J. Seligmann, D. Fisher, Christopher Smith, S. Richman +8 more
2016Annals of Oncology165 citations Open access
Semantic Scholar
MUTYH-associated polyposis--from defect in base excision repair to clinical genetic testing.
J. Cheadle, J. Sampson
2007DNA Repair154 citations
Semantic Scholar
Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin.
Angela K. Hodges, Shao-Wei Li, Julie Helen Maynard, Lee Parry +4 more
2001Human Molecular Genetics133 citations Open access
Semantic Scholar
Comprehensive analysis of the contribution of germline MYH variation to early‐onset colorectal cancer
C. Fleischmann, J. Peto, J. Cheadle, Bindiya Shah +2 more
2004International Journal of Cancer130 citations Open access
Semantic Scholar
A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer
N. Al-Tassan, N. Whiffin, Fay J. Hosking, C. Palles +31 more
2015Scientific Reports124 citations Open access
Semantic Scholar
MutYH (MYH) and colorectal cancer.
J. Sampson, Siân Jones, S. Dolwani, J. Cheadle
2005Biochemical Society Transactions120 citations
Semantic Scholar
Somatic profiling of the epidermal growth factor receptor pathway in tumours from patients with advanced colorectal cancer, treated with chemotherapy ± cetuximab
Christopher G. Smith, D. Fisher, B. Claes, T. Maughan +11 more
2013Clinical Cancer Research112 citations Open access
Semantic Scholar
Modifiable pathways for colorectal cancer: a mendelian randomisation analysis
A. Cornish, P. Law, M. Timofeeva, Kimmo Palin +16 more
2019The Lancet Gastroenterology and Hepatology107 citations Open access
Semantic Scholar
Exposing the MYtH about base excision repair and human inherited disease.
J. Cheadle, J. Sampson
2003Human Molecular Genetics101 citations
Semantic Scholar
Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer
H. Rodriguez-Broadbent, P. Law, A. Sud, Kimmo Palin +52 more
2017International Journal of Cancer95 citations Open access
Semantic Scholar
Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas.
Duncan Azzopardi, Anthony R. Dallosso, Kristilyn Eliason, B. Hendrickson +9 more
2008Cancer Research93 citations Open access
Semantic Scholar
Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis.
Cleo S. Bonnet, M. Aldred, C. V. von Ruhland, Rebecca Harris +2 more
2009Human Molecular Genetics91 citations Open access
Semantic Scholar
Critical research gaps and recommendations to inform research prioritisation for more effective prevention and improved outcomes in colorectal cancer
M. Lawler, D. Alsina, R. Adams, A. Anderson +85 more
2017Gut80 citations Open access
Semantic Scholar
Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas
Siân Jones, S. Lambert, G. Williams, J. Best +2 more
2004British Journal of Cancer76 citations Open access
Semantic Scholar
Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis
Hai-Bo Bai, Siân Jones, Xin-min Guan, T. Wilson +3 more
2005Nucleic Acids Research74 citations Open access
Semantic Scholar
Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer
D. Jarvis, J. Mitchell, P. Law, Kimmo Palin +53 more
2016British Journal of Cancer68 citations Open access
Semantic Scholar
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome
C. Palles, Hannah D. West, E. Chew, Sara Galavotti +65 more
2022American Journal of Human Genetics65 citations Open access
Semantic Scholar
Exome Resequencing Identifies Potential Tumor‐Suppressor Genes that Predispose to Colorectal Cancer
Christopher G. Smith, M. Naven, Rebecca Harris, James P. Colley +10 more
2013Human Mutation65 citations Open access
Semantic Scholar
Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3
Anthony R. Dallosso, S. Dolwani, N. Jones, S. Jones +19 more
2008Gut65 citations
Semantic Scholar
Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis
Alistair Jones, J. Sampson, B. Hoogendoorn, D. Cohen +1 more
2000Human Genetics65 citations
Semantic Scholar
A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma.
Catherine H. Wilson, S. Idziaszczyk, L. Parry, Carol Guy +6 more
2005Human Molecular Genetics64 citations
Semantic Scholar
Low level mosaicism detectable by DHPLC but not by direct sequencing
A. C. Jones, J. Sampson, J. Cheadle
2001Human Mutation57 citations Open access
Semantic Scholar
Identification of potentially responsive subsets when cetuximab is added to oxaliplatin-fluoropyrimidine chemotherapy (CT) in first-line advanced colorectal cancer (aCRC): Mature results of the MRC COIN trial.
T. Maughan, R. Adams, Christopher G. Smith, M. Seymour +7 more
201056 citations
Semantic Scholar
Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease
Giulia Orlando, P. Law, Kimmo Palin, S. Tuupanen +53 more
2016Human Molecular Genetics53 citations Open access
Semantic Scholar
Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours.
J. Cheadle, M. Krawczak, M. Thomas, A. Hodges +3 more
2002Cancer Research53 citations
Semantic Scholar
Tsc1 haploinsufficiency without mammalian target of rapamycin activation is sufficient for renal cyst formation in Tsc1+/- mice.
Catherine H. Wilson, Cleo S. Bonnet, Carol Guy, S. Idziaszczyk +5 more
2006Cancer Research52 citations
Semantic Scholar
Characterizing mutations in samples with low‐level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes
Paul Emmerson, J. Maynard, Siân Jones, R. Butler +2 more
2003Human Mutation52 citations Open access
Semantic Scholar
6LBA Addition of cetuximab to oxaliplatin-based combination chemotherapy (CT) in patients with KRAS wild-type advanced colorectal cancer (ACRC): a randomised superiority trial (MRC COIN)
T. Maughan, R. Adams, Christopher G. Smith, M. Seymour +6 more
200950 citations
Semantic Scholar
Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression
T. Soucek, M. Rosner, A. Miloloza, Marion Kubista +3 more
2001Oncogene48 citations
Semantic Scholar
Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma
N. Al-Tassan, T. Eisen, J. Maynard, H. Bridle +5 more
2003Human Genetics46 citations
Semantic Scholar
Common genetic variation and survival after colorectal cancer diagnosis: a genome-wide analysis.
A. Phipps, M. Passarelli, A. Chan, T. Harrison +31 more
2016Carcinogenesis42 citations Open access
Semantic Scholar
BRAF and NRAS Locus-Specific Variants Have Different Outcomes on Survival to Colorectal Cancer
M. Summers, Christopher G. Smith, T. Maughan, R. Kaplan +2 more
2016Clinical Cancer Research39 citations
Semantic Scholar
Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis
S. May-Wilson, A. Sud, P. Law, Kimmo Palin +50 more
2017European Journal of Cancer37 citations Open access
Semantic Scholar
Pharmacogenetic analyses of 2183 patients with advanced colorectal cancer; potential role for common dihydropyrimidine dehydrogenase variants in toxicity to chemotherapy.
A. Madi, D. Fisher, T. Maughan, James P. Colley +9 more
2018European Journal of Cancer33 citations Open access
Semantic Scholar
Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci
T. Tanskanen, Linda van den Berg, Niko Välimäki, M. Aavikko +56 more
2017International Journal of Cancer33 citations Open access
Semantic Scholar
Pan-Cancer Interrogation of MUTYH Variants Reveals Biallelic Inactivation and Defective Base Excision Repair Across a Spectrum of Solid Tumors
C. Paller, H. Tukachinsky, A. Maertens, B. Decker +3 more
2024JCO Precision Oncology27 citations Open access
Semantic Scholar
Analysis of inherited MYH/(MutYH) mutations in British Asian patients with colorectal cancer
S. Dolwani, Gwyn T. Williams, K. P. West, J. Newman +5 more
2007Gut27 citations Open access
Semantic Scholar
Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome
H. Gill, J. Cheadle, Julie Helen Maynard, Nicholas I. Fleming +12 more
2003Journal of Medical Genetics25 citations Open access
Semantic Scholar

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