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Number of items: 23.

Short, Emma, Thomas, Laura E. ORCID: https://orcid.org/0000-0002-8621-5285, Davies, Alice, Bolton, Alice, Maynard, Julie, Giles, Peter ORCID: https://orcid.org/0000-0003-3143-6854, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Consoli, Claudia, Egner, Iris, Jundi, Hala and Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348 2020. APC transcription studies and molecular diagnosis of familial adenomatous polyposis. European Journal of Human Genetics 28 (1) , pp. 118-121. 10.1038/s41431-019-0486-2
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Madi, A., Fisher, D., Maughan, T. S., Colley, J. P., Meade, A. M., Maynard, J., Humphreys, V., Wasan, H., Adams, R. A. ORCID: https://orcid.org/0000-0003-3915-7243, Idziaszczyk, S., Harris, R., Kaplan, R. S. and Cheadle, J. P. ORCID: https://orcid.org/0000-0001-9453-8458 2018. Common and rare DPYD variants are predictive for 5FU/capecitabine (5FU) toxicity: The MRC COIN and COIN-B trials. Presented at: 43rd ESMO Congress 2018, Munich, Germany, 19-23 October 2018. Annals of Oncology. , vol.29 (Supple) Oxford University Press, VIII22. 10.1093/annonc/mdy269.072

Madi, Ayman, Fisher, David, Maughan, Timothy S., Colley, James P., Meade, Angela M., Maynard, Julie, Humphreys, Vikki, Wasan, Harpreet, Adams, Richard A. ORCID: https://orcid.org/0000-0003-3915-7243, Idziaszczyk, Shelley, Harris, Rebecca, Kaplan, Richard S. and Cheadle, Jeremy P. ORCID: https://orcid.org/0000-0001-9453-8458 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 E. ORCID: https://orcid.org/0000-0002-8621-5285, Hurley, Joanna J., Meuser, Elena, Jose, Sian, Ashelford, Kevin E. ORCID: https://orcid.org/0000-0003-3217-2811, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Idziaszczyk, Shelley, Maynard, Julie, Leon Brito, Helena, Harry, Manon, Walters, Angharad, Raja, Meera, Walton, Sarah-Jane, Dolwani, Sunil ORCID: https://orcid.org/0000-0002-3113-5472, Williams, Geraint T. ORCID: https://orcid.org/0000-0003-3768-9940, Morgan, Meleri, Moorghen, Morgan, Clark, Susan K. and Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348 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. ORCID: https://orcid.org/0000-0003-3768-9940, Mustonen, Ville, Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348 and Adams, David J. 2016. Adenoma development in familial adenomatous polyposis andMUTYH-associated polyposis: somatic landscape and driver genes. Journal of Pathology 238 (1) , pp. 98-108. 10.1002/path.4643
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Dallosso, Anthony Richard, Dolwani, Sunil ORCID: https://orcid.org/0000-0002-3113-5472, 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 ORCID: https://orcid.org/0000-0003-1784-5483, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 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 ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 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 ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 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 ORCID: https://orcid.org/0000-0002-3113-5472, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 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 ORCID: https://orcid.org/0000-0002-2902-2348, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 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 ORCID: https://orcid.org/0000-0002-2902-2348, Dolwani, Sunil ORCID: https://orcid.org/0000-0002-3113-5472, 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 ORCID: https://orcid.org/0000-0001-9453-8458 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 ORCID: https://orcid.org/0000-0001-9453-8458, 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 ORCID: https://orcid.org/0000-0002-1200-9286 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 ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 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 ORCID: https://orcid.org/0000-0003-3768-9940, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 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 ORCID: https://orcid.org/0000-0001-9453-8458, Chmiel, Nikolas H., Maynard, Julie Helen, Fleming, Nick, Livingston, Alison L., Williams, Geraint Trefor ORCID: https://orcid.org/0000-0003-3768-9940, Hodges, Angela Kaye, Davies, D.Rhodri, David, Sheila S., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 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 ORCID: https://orcid.org/0000-0002-4467-9196, Braverman, Richard, DeClue, Jeffrey E., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 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 ORCID: https://orcid.org/0000-0002-4467-9196, Maynard, Julie Helen, Patel, A., Clifford, S. C., Morrissey, C., Maher, E. R., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 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 ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 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

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Gill, Harinder, Fleming, Nick, Maynard, Julie Helen, Kerr, Alison, Leonard, Helen, Krawczak, Michael, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Lynch, Sally, Thomas, Nicholas Stuart Tudor, Hughes, Helen, Hulten, Maj, Ravine, David, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 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

Parry, Lee ORCID: https://orcid.org/0000-0002-4467-9196, Maynard, Julie Helen, Patel, Amit, Hodges, Angela, von Deimling, Andreas, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 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

Jones, Alistair C., Shyamsundar, Magitha M., Thomas, Meinir W., Maynard, Julie Helen, Idziaszczyk, Shelley, Tomkins, Susan, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 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 ORCID: https://orcid.org/0000-0002-8943-8484 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 ORCID: https://orcid.org/0000-0002-8943-8484 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 Mon Apr 21 08:33:04 2025 BST.


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