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Number of items: 21.

Madi, Ayman, Fisher, David, Maughan, Timothy S., Colley, James P., Meade, Angela M., Maynard, Julie, Humphreys, Vikki, Wasan, Harpreet, Adams, Richard A., Idziaszczyk, Shelley, Harris, Rebecca, Kaplan, Richard S. and Cheadle, Jeremy P. 2018. Pharmacogenetic analyses of 2,183 patients with advanced colorectal cancer; Potential role for common dihydropyrimidine dehydrogenase variants in toxicity to chemotherapy. European Journal of Cancer 102 , pp. 31-39. 10.1016/j.ejca.2018.07.009
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Thomas, Laura Elizabeth, Hurley, Joanna J., Meuser, Elena, Jose, Sian, Ashelford, Kevin E., Mort, Matthew, Idziaszczyk, Shelley, Maynard, Julie, Leon Brito, Helena, Harry, Manon, Walters, Angharad, Raja, Meera, Walton, Sarah Jane, Dolwani, Sunil, Williams, Geraint T., Morgan, Meleri, Moorghen, Morgan, Clark, Susan K. and Sampson, Julian R. 2017. Burden and profile of somatic mutation in duodenal adenomas from patients with familial adenomatous- and MUTYH-associated polyposis. Clinical Cancer Research 23 (21) , pp. 6721-6732. 10.1158/1078-0432.CCR-17-1269
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Rashid, Mamunur, Fischer, Andrej, Wilson, Cathy H, Tiffen, Jessamy, Rust, Alistair G, Stevens, Philip, Idziaszczyk, Shelley, Maynard, Julie, Williams, Geraint T., Mustonen, Ville, Sampson, Julian Roy and Adams, David J. 2016. Adenoma development in familial adenomatous polyposis andMUTYH-associated polyposis: somatic landscape and driver genes. The Journal of Pathology 238 (1) , pp. 98-108. 10.1002/path.4643
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Dallosso, Anthony Richard, Dolwani, Sunil, Jones, N., Jones, Sian, Colley, James, Maynard, Julie Helen, Idziaszczyk, Shelley Alexis, Humphreys, Vikki, Arnold, J., Donaldson, A., Eccles, D., Ellis, A., Evans, D. G., Frayling, Ian, Hes, F. J., Houlston, R S, Maher, E R, Nielsen, M, Parry, S, Tyler, E, Escott-Price, Valentina, Cheadle, Jeremy Peter and Sampson, Julian Roy 2008. Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. Gut 57 (9) , pp. 1252-1255. 10.1136/gut.2007.145748

Wilson, Catherine Helen, Bonnet, Cleo, Guy, Carol, Idziaszczyk, Shelley Alexis, Colley, James, Humphreys, Vikki, Maynard, Julie Helen, Sampson, Julian Roy and Cheadle, Jeremy Peter 2006. Tsc1 Haploinsufficiency without Mammalian Target of Rapamycin Activation Is Sufficient for Renal Cyst Formation in Tsc1+/- Mice. Cancer Research 66 (16) , pp. 7934-8. 10.1158/0008-5472.CAN-06-1740

Wilson, Catherine Helen, Idziaszczyk, Shelley Alexis, Colley, James, Humphreys, Vikki, Guy, Carol, Maynard, Julie Helen, Sampson, Julian Roy and Cheadle, Jeremy Peter 2005. Induction of renal tumorigenesis with elevated levels of somatic loss of heterozygosity in Tsc1+/- mice on a Blm-deficient background. Cancer Research 65 (22) , pp. 10179-10182. 10.1158/0008-5472.CAN-05-2688

Colley, James, Jones, Sian, Dallosso, Anthony R., Maynard, Julie Helen, Humphreys, Vikki, Dolwani, Sunil, Sampson, Julian Roy and Cheadle, Jeremy Peter 2005. Rapid recognition of aberrant dHPLC elution profiles using the Transgenomic NavigatorTM software. Human Mutation 26 (2) , p. 165. 10.1002/humu.9354

Al-Tassan, Nada, Eisen, Tim, Maynard, Julie Helen, Bridle, Helen, Shah, Bindiya, Fleischmann, Christina, Sampson, Julian Roy, Cheadle, Jeremy Peter and Houlston, Richard S. 2004. Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma. Human Genetics 114 (2) , pp. 207-210. 10.1007/s00439-003-1033-2

Sampson, Julian Roy, Dolwani, Sunil, Jones, Sian, Eccles, Diana, Ellis, Anthony, Evans, D. Gareth, Frayling, Ian Martin, Jordan, Sheila, Maher, Eamonn R., Mak, Tony, Maynard, Julie Helen, Pigatto, Francesca, Shaw, Joan and Cheadle, Jeremy Peter 2003. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. The Lancet 362 (9377) , pp. 39-41. 10.1016/S0140-6736(03)13805-6

Gill, Hefin, Cheadle, Jeremy Peter, Maynard, Julie Helen, Fleming, Nick, Whatley, Sharon D., Cranston, T, Thompson, E M, Leonard, H, Davis, M, Christodoulou, J, Skjeldal, O, Hanefeld, F, Kerr, A, Tandy, A, Ravine, D. and Clarke, Angus John 2003. Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. Journal of Medical Genetics 40 (5) , pp. 380-384. 10.1136/jmg.40.5.380

Emmerson, Paul, Maynard, Julie Helen, Jones, Sian, Butler, Rachel, Sampson, Julian Roy and Cheadle, Jeremy Peter 2003. Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes. Human Mutation 21 (2) , pp. 112-115. 10.1002/humu.10159

Jones, Sian, Emmerson, Paul, Maynard, Julie Helen, Best, Jacqueline M., Jordan, Sheila, Williams, Geraint Trefor, Sampson, Julian Roy and Cheadle, Jeremy Peter 2002. Biallelic germline mutations in MYH predispose to multiple colorectal ademona and somatic G:C to T:A mutations. Human Molecular Genetics 11 (23) , pp. 2961-2967. 10.1093/hmg/11.23.2961

Al-Tassan, Nada, Chmiel, Nikolas H., Maynard, Julie Helen, Fleming, Nick, Livingston, Alison L., Williams, Geraint Trefor, Hodges, Angela Kaye, Davies, D.Rhodri, David, Sheila S., Sampson, Julian Roy and Cheadle, Jeremy Peter 2002. Inherited variants of MYH associated with somatic G:C to T:A mutations in colorectal tumors. Nature Genetics 30 (2) , pp. 227-32. 10.1038/ng828

Hodges, Angela K., Li, Shaowei, Maynard, Julie Helen, Parry, Lee, Braverman, Richard, DeClue, Jeffrey E., Cheadle, Jeremy Peter and Sampson, Julian Roy 2001. Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin. Human Molecular Genetics 10 (25) , pp. 2899-9205. 10.1093/hmg/10.25.2899

Parry, Lee, Maynard, Julie Helen, Patel, A., Clifford, S. C., Morrissey, C., Maher, E. R., Cheadle, Jeremy Peter and Sampson, Julian Roy 2001. Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas. British Journal of Cancer 85 , pp. 1226-1230. 10.1054/bjoc.2001.2072

Fleming, Nick, Maynard, Julie H., Tzitzis, Loukas, Sampson, Julian Roy and Cheadle, Jeremy Peter 2001. LD-PCR coupled to long-read direct sequencing: an approach for mutation detection in genes with compact genomic structures. Journal of Biochemical and Biophysical Methods 47 (1-2) , pp. 131-136. 10.1016/S0165-022X(00)00159-7

Parry, Lee, Maynard, Julie Helen, Patel, Amit, Hodges, Angela, von Deimling, Andreas, Sampson, Julian Roy and Cheadle, Jeremy Peter 2000. Molecular analysis of the TSC1 and TSC2 tumour suppressor genes in sporadic glial and glioneuronal tumours. Human Genetics 107 (4) , pp. 350-356. 10.1007/s004390000390

Cheadle, Jeremy Peter, Gill, Harinder, Fleming, Nick, Maynard, Julie Helen, Kerr, Alison, Leonard, Helen, Krawczak, Michael, Cooper, David Neil, Lynch, Sally, Thomas, Nicholas Stuart Tudor, Hughes, Helen, Hulten, Maj, Ravine, David, Sampson, Julian Roy and Clarke, Angus John 2000. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Human Molecular Genetics 9 (7) , pp. 1119-1129. 10.1093/hmg/9.7.1119

Jones, Alistair C., Shyamsundar, Magitha M., Thomas, Meinir W., Maynard, Julie Helen, Idziaszczyk, Shelley, Tomkins, Susan, Sampson, Julian Roy and Cheadle, Jeremy Peter 1999. Comprehensive mutation analysis of TSC1 and TSC2 - and phenotypic correlations in 150 families with tuberous sclerosis. American Journal of Human Genetics 64 (5) , pp. 1305-1315. 10.1086/302381

Upadhyaya, Meena, Ruggieri, M., Maynard, Julie Helen, Osborn, M., Hartog, C., Mudd, S., Penttinen, M., Cordeiro, I., Ponder, M., Ponder, B. A., Krawczak, M. and Cooper, David Neil 1998. Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Human Genetics 102 (5) , pp. 591-597. 10.1007/s004390050746

Upadhyaya, Meena, Osborn, M. J., Maynard, Julie Helen, Kim, M. R., Tamanoi, F. and Cooper, David Neil 1997. Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. Human Genetics -Berlin- 99 (1) , pp. 88-92. 10.1007/s004390050317

This list was generated on Thu Mar 21 04:22:27 2019 GMT.