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Number of items: 109.

Paller, Channing J., Tukachinsky, Hanna, Maertens, Alexandra, Decker, Brennan, Sampson, Julian R., Cheadle, Jeremy P. ORCID: https://orcid.org/0000-0001-9453-8458 and Antonarakis, Emmanuel S. 2024. Pan-cancer interrogation of MUTYH variants reveals biallelic inactivation and defective base excision repair across a spectrum of solid tumors. JCO Precision Oncology 8 (8) 10.1200/PO.23.00251
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Wills, Christopher, Watts, Katie, Maughan, Timothy S., Fisher, David, Al-Tassan, Nada A., Houlston, Richard S., Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483 and Cheadle, Jeremy ORCID: https://orcid.org/0000-0001-9453-8458 2023. Germline variation in RASAL2 may predict survival in patients with RAS-activated colorectal cancer. Genes Chromosomes and Cancer 62 (6) , pp. 332-341. 10.1002/gcc.23133
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Wills, Christopher, Houseman, Amy, Watts, Katie, Maughan, Timothy S., Fisher, David, Houlston, Richard S., West, Hannah D. ORCID: https://orcid.org/0000-0002-6104-6534, Escott Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483 and Cheadle, Jeremy P. ORCID: https://orcid.org/0000-0001-9453-8458 2023. Relationship between 233 colorectal cancer risk loci and survival in 1,926 patients with advanced disease. BJC Reports 1 , 2. 10.1038/s44276-023-00003-z
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Fernandez-Rozadilla, Ceres, Timofeeva, Maria, Chen, Zhishan, Law, Philip, Thomas, Minta, Schmit, Stephanie, Díez-Obrero, Virginia, Hsu, Li, Fernandez-Tajes, Juan, Palles, Claire, Sherwood, Kitty, Briggs, Sarah, Svinti, Victoria, Donnelly, Kevin, Farrington, Susan, Blackmur, James, Vaughan-Shaw, Peter, Shu, Xiao-ou, Long, Jirong, Cai, Qiuyin, Guo, Xingyi, Lu, Yingchang, Broderick, Peter, Studd, James, Huyghe, Jeroen, Harrison, Tabitha, Conti, David, Dampier, Christopher, Devall, Mathew, Schumacher, Fredrick, Melas, Marilena, Rennert, Gad, Obón-Santacana, Mireia, Martín-Sánchez, Vicente, Moratalla-Navarro, Ferran, Oh, Jae Hwan, Kim, Jeongseon, Jee, Sun Ha, Jung, Keum Ji, Kweon, Sun-Seog, Shin, Min-Ho, Shin, Aesun, Ahn, Yoon-Ok, Kim, Dong-Hyun, Oze, Isao, Wen, Wanqing, Matsuo, Keitaro, Matsuda, Koichi, Tanikawa, Chizu, Ren, Zefang, Gao, Yu-Tang, Jia, Wei-Hua, Hopper, John, Jenkins, Mark, Win, Aung Ko, Pai, Rish, Figueiredo, Jane, Haile, Robert, Gallinger, Steven, Woods, Michael, Newcomb, Polly, Duggan, David, Cheadle, Jeremy ORCID: https://orcid.org/0000-0001-9453-8458, Kaplan, Richard, Maughan, Timothy, Kerr, Rachel, Kerr, David, Kirac, Iva, Böhm, Jan, Mecklin, Lukka-Pekka, Jousilahti, Pekka, Knekt, Paul, Aaltonen, Lauri, Rissanen, Harri, Pukkala, Eero, Eriksson, Johan, Cajuso, Tatiana, Hänninen, Ulrika, Kondelin, Johanna, Palin, Kimmo, Tanskanen, Tomas, Renkonen-Sinisalo, Laura, Zanke, Brent, Männistö, Satu, Albanes, Demetrius, Weinstein, Stephanie, Ruiz-Narvaez, Edward, Palmer, Julie, Buchanan, Daniel, Platz, Elizabeth, Visvanathan, Kala, Ulrich, Cornelia, Siegel, Erin, Brezina, Stefanie, Gsur, Andrea, Campbell, Peter, Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Slattery, Martha, Potter, John, Tsilidis, Konstantinos, Schulze, Matthias, Gunter, Marc, Murphy, Neil, Castells, Antoni, Castellví-Bel, Sergi, Moreira, Leticia, Arndt, Volker, Shcherbina, Anna, Stern, Mariana, Pardamean, Bens, Bishop, Timothy, Giles, Graham, Southey, Melissa, Idos, Gregory, McDonnell, Kevin, Abu-Ful, Zomoroda, Greenson, Joel, Shulman, Katerina, Lejbkowicz, Flavio, Offit, Kenneth, Su, Yu-Ru, Steinfelder, Robert, Keku, Temitope, van Guelpen, Bethany, Hudson, Thomas, Hampel, Heather, Pearlman, Rachel, Berndt, Sonja, Hayes, Richard, Martinez, Marie Elena, Thomas, Sushma, Corley, Douglas, Pharoah, Paul, Larsson, Susanna, Yen, Yun, Lenz, Heinz-Josef, White, Emily, Li, Li, Doheny, Kimberly, Pugh, Elizabeth, Shelford, Tameka, Chan, Andrew, Cruz-Correa, Marcia, Lindblom, Annika, Hunter, David, Joshi, Amit, Schafmayer, Clemens, Scacheri, Peter, Kundaje, Anshul, Nickerson, Deborah, Schoen, Robert, Hampe, Jochen, Stadler, Zsofia, Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Papadopoulos, Nickolas, Edlund, Chistopher, Gauderman, William, Thomas, Duncan, Shibata, David, Toland, Amanda, Markowitz, Sanford, Kim, Andre, Chanock, Stephen, van Duijnhoven, Franzel, Feskens, Edith, Sakoda, Lori, Gago-Dominguez, Manuela, Wolk, Alicja, Naccarati, Alessio, Pardini, Barbara, FitzGerald, Liesel, Lee, Soo Chin, Ogino, Shuji, Bien, Stephanie, Kooperberg, Charles, Li, Christopher, Lin, Yi, Prentice, Ross, Qu, Conghui, Bézieau, Stéphane, Tangen, Catherine, Mardis, Elaine, Yamaji, Taiki, Sawada, Norie, Iwasaki, Motoki, Haiman, Christopher, Le Marchand, Loic, Wu, Anna, Qu, Chenxu, McNeil, Caroline, Coetzee, Gerhard, Hayward, Caroline, Deary, Ian, Harris, Sarah, Theodoratou, Evropi, Reid, Stuart, Walker, Marion, Ooi, Li Yin, Moreno, Victor, Casey, Graham, Gruber, Stephen, Tomlinson, Ian, Zheng, Wei, Dunlop, Malcolm, Houlston, Richard and Peters, Ulrike 2023. Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries. Nature Genetics 55 , 519–520. 10.1038/s41588-023-01334-w
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Fernandez-Rozadilla, Ceres, Timofeeva, Maria, Chen, Zhishan, Law, Philip, Thomas, Minta, Schmit, Stephanie, Díez-Obrero, Virginia, Hsu, Li, Fernandez-Tajes, Juan, Palles, Claire, Sherwood, Kitty, Briggs, Sarah, Svinti, Victoria, Donnelly, Kevin, Farrington, Susan, Blackmur, James, Vaughan-Shaw, Peter, Shu, Xiao-ou, Long, Jirong, Cai, Qiuyin, Guo, Xingyi, Lu, Yingchang, Broderick, Peter, Studd, James, Huyghe, Jeroen, Harrison, Tabitha, Conti, David, Dampier, Christopher, Devall, Mathew, Schumacher, Fredrick, Melas, Marilena, Rennert, Gad, Obón-Santacana, Mireia, Martin-Sanchez, Vicente, Moratalla-Navarro, Ferran, Hwan Oh, Jae, Kim, Jeongseon, Jee, Sun Ha, Jung, Keum Ji, Kweon, Sun-Seog, Shin, Min-Ho, Shin, Aesun, Ahn, Yoon-Ok, Kim, Dong-Hyun, Oze, Isao, Wen, Wanqing, Matsuo, Keitaro, Matsuda, Koichi, Tanikawa, Chizu, Ren, Zefang, Gao, Yu-Tang, Jia, Wei-Hua, Hopper, John, Jenkins, Mark, Win, Aung Ko, Pai, Rish, Figueiredo, Jane, Haile, Robert, Gallinger, Steven, Woods, Michael, Newcomb, Polly, Duggan, David, Cheadle, Jeremy ORCID: https://orcid.org/0000-0001-9453-8458, Kaplan, Richard, Maughan, Timothy, Kerr, Rachel, Kerr, David, Kirac, Iva, Bohm, Jan, Mecklin, Lukka-Pekka, Jousilahti, Pekka, Knekt, Paul, Aaltonen, Lauri, Rissanen, Harri, Pukkala, Eero, Eriksson, Johan, Cajuso, Tatiana, Hanninen, Ulrika, Kondelin, Johanna, Palin, Kimmo, Tanskanen, Tomas, Renkonen-Sinisalo, Laura, Zanke, Brent, Männistö, Satu, Albanes, Demetrius, Weinstein, Stephanie, Ruiz-Narvaez, Edward, Palmer, Julie, Buchanan, Daniel, Platz, Elizabeth, Visvanathan, Kala, Ulrich, Cornelia, Siegel, Erin, Brezina, Stefanie, Gsur, Andrea, Campbell, Peter, Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann and Slattery, Martha 2022. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and East Asian ancestries. Nature Genetics 10.1038/s41588-022-01222-9
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Watts, Katie, Wills, Christopher, Madi, Ayman, Palles, Claire, Maughan, Timothy S., Kaplan, Richard, Al-Tassan, Nada A., Kerr, Rachel, Kerr, David J., Houlston, Richard S., Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483 and Cheadle, Jeremy P. ORCID: https://orcid.org/0000-0001-9453-8458 2022. Genetic variation in ST6GAL1 is a determinant of capecitabine and oxaliplatin induced hand-foot syndrome. International Journal of Cancer 151 (6) , pp. 957-966. 10.1002/ijc.34046
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Wills, Christopher, He, Yazhou, Summers, Matthew G., Lin, Yi, Phipps, Amanda I., Watts, Katie, Law, Philip J., Al-Tassan, Nada A., Maughan, Timothy S., Kaplan, Richard, Houlston, Richard S., Peters, Ulrike, Newcomb, Polly A., Chan, Andrew T., Buchanan, Daniel D., Gallinger, Steve, Marchand, Loic L., Pai, Rish K., Shi, Qian, Alberts, Steven R., Gray, Victoria, West, Hannah D. ORCID: https://orcid.org/0000-0002-6104-6534, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Dunlop, Malcolm G. and Cheadle, Jeremy ORCID: https://orcid.org/0000-0001-9453-8458 2021. Genome-wide search for determinants of survival in 1,926 patients with advanced colorectal cancer with follow-up in over 22,000 patients. European Journal Of Cancer 159 , pp. 247-258. 10.1016/j.ejca.2021.09.047
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Watts, Katie, Wills, Christopher, Madi, Ayman, Palles, Claire, Maughan, Timothy S., Kaplan, Richard, Al-Tassan, Nada A., Kerr, Rachel, Kerr, David, Gray, Victoria, West, Hannah ORCID: https://orcid.org/0000-0002-6104-6534, Houlston, Richard S., Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483 and Cheadle, Jeremy P. ORCID: https://orcid.org/0000-0001-9453-8458 2021. Genome-wide association studies of toxicity to oxaliplatin and fluoropyrimidine chemotherapy with or without cetuximab in 1800 patients with advanced colorectal cancer. International Journal of Cancer 149 (9) , pp. 1713-1722. 10.1002/ijc.33739
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Culliford, Richard, Cornish, Alex J., Law, Philip J., Farrington, Susan M., Palin, Kimmo, Jenkins, Mark A., Casey, Graham, Hoffmeister, Michael, Brenner, Hermann, Chang-Claude, Jenny, Kirac, Iva, Maughan, Tim, Brezina, Stefanie, Gsur, Andrea, Cheadle, Jeremy P. ORCID: https://orcid.org/0000-0001-9453-8458, Aaltonen, Lauri A., Dunlop, Malcom G. and Soulston, Richard S. 2021. Lack of an association between gallstone disease and bilirubin levels with risk of colorectal cancer: A Mendelian randomisation analysis. British Journal of Cancer 124 , pp. 1169-1174. 10.1038/s41416-020-01211-x
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Cornish, Alex J., Law, Philip J., Timofeeva, Maria, Palin, Kimmo, Farrington, Susan M., Palles, Claire, Jenkins, Mark A., Casey, Graham, Brenner, Hermann, Chang-Claude, Jenny, Hoffmeister, Michael, Kirac, Iva, Maughan, Tim, Brezina, Stefanie, Gsur, Andrea, Cheadle, Jeremy P. ORCID: https://orcid.org/0000-0001-9453-8458, Aaltonen, Lauri A., Tomlinson, Ian, Dunlop, Malcolm G. and Houlston, Richard S. 2020. Modifiable pathways for colorectal cancer: a mendelian randomisation analysis. Lancet Gastroenterology and Hepatology 5 (1) , pp. 55-62. 10.1016/S2468-1253(19)30294-8
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Summers, Matthew G. ORCID: https://orcid.org/0000-0001-6387-124X, Maughan, Timothy S., Kaplan, Richard, Law, Philip J., Houlston, Richard S., Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483 and Cheadle, Jeremy P. ORCID: https://orcid.org/0000-0001-9453-8458 2020. Comprehensive analysis of colorectal cancer-risk loci and survival outcome: a prognostic role for CDH1 variants. European Journal Of Cancer 124 , pp. 56-63. 10.1016/j.ejca.2019.09.024
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Gray, Victoria, Briggs, Sarah, Palles, Claire, Jaegar, Emma, Iveson, Timothy, Kerr, Rachel, Saunders, Mark P., Paul, James, Harkin, Andrea, McQueen, John, Summers, Matthew G., Johnstone, Elaine, Wang, Haitao, Gatcombe, Laura, Maughan, Timothy S., Kaplan, Richard, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Al-Tassan, Nada A., Meyer, Brian F., Wakil, Salma M., Houlston, Richard S., Cheadle, Jeremy P. ORCID: https://orcid.org/0000-0001-9453-8458, Tomlinson, Ian and Church, David N. 2019. Pattern recognition receptor polymorphisms as predictors of oxaliplatin benefit in colorectal cancer. JNCI: Journal of the National Cancer Institute 111 (8) , pp. 828-836. 10.1093/jnci/djy215
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Law, Philip J., Timofeeva, Maria, Fernandez-Rozadilla, Ceres, Broderick, Peter, Studd, James, Fernandez-Tajes, Juan, Farrington, Susan, Svinti, Victoria, Palles, Claire, Orlando, Giulia, Sud, Amit, Holroyd, Amy, Penegar, Steven, Theodoratou, Evropi, Vaughan-Shaw, Peter, Campbell, Harry, Zgaga, Lina, Hayward, Caroline, Campbell, Archie, Harris, Sarah, Deary, Ian J., Starr, John, Gatcombe, Laura, Pinna, Maria, Briggs, Sarah, Martin, Lynn, Jaeger, Emma, Sharma-Oates, Archana, East, James, Leedham, Simon, Arnold, Roland, Johnstone, Elaine, Wang, Haitao, Kerr, David, Kerr, Rachel, Maughan, Tim, Kaplan, Richard, Al-Tassan, Nada, Palin, Kimmo, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Buchanan, Daniel D., Win, Aung-Ko, Hopper, John, Jenkins, Mark E., Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steven, Duggan, David, Casey, Graham, Hoffmann, Per, Nöthen, Markus M., Jöckel, Karl-Heinz, Easton, Douglas F., Pharoah, Paul D. P., Peto, Julian, Canzian, Federico, Swerdlow, Anthony, Eeles, Rosalind A., Kote-Jarai, Zsofia, Muir, Kenneth, Pashayan, Nora, Harkin, Andrea, Allan, Karen, McQueen, John, Paul, James, Iveson, Timothy, Saunders, Mark, Butterbach, Katja, Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Kirac, Iva, Matošević, Petar, Hofer, Philipp, Brezina, Stefanie, Gsur, Andrea, Cheadle, Jeremy P. ORCID: https://orcid.org/0000-0001-9453-8458, Aaltonen, Lauri A., Tomlinson, Ian, Houlston, Richard S. and Dunlop, Malcolm G. 2019. Association analyses identify 31 new risk loci for colorectal cancer susceptibility. Nature Communications 10 , 2154. 10.1038/s41467-019-09775-w
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West, Hannah ORCID: https://orcid.org/0000-0002-6104-6534, Coffey, Michelle, Wagner, Michael J., McLeod, Howard L., Colley, James P., Adams, Richard A. ORCID: https://orcid.org/0000-0003-3915-7243, Fleck, Oliver, Maughan, Timothy S., Fisher, David, Kaplan, Richard S., Harris, Rebecca and Cheadle, Jeremy P. ORCID: https://orcid.org/0000-0001-9453-8458 2018. Role for nucleotide excision repair gene variants in oxaliplatin-induced peripheral neuropathy. JCO Precision Oncology 2 , pp. 1-18. 10.1200/PO.18.00090
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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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Tanskanen, Tomas, van den Berg, Linda, Välimäki, Niko, Aavikko, Mervi, Ness-Jensen, Eivind, Hveem, Kristian, Wettergren, Yvonne, Bexe Lindskog, Elinor, Tõnisson, Neeme, Metspalu, Andres, Silander, Kaisa, Orlando, Giulia, Law, Philip J., Tuupanen, Sari, Gylfe, Alexandra E., Hänninen, Ulrika A., Cajuso, Tatiana, Kondelin, Johanna, Sarin, Antti-Pekka, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Järvinen, Heikki, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Martin, Lynn, Barclay, Ella, Tenesa, Albert, Farrington, Susan M., Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Tim S., Kaplan, Richard, Kerr, Rachel, Kerr, David, Buchanan, Daniel D., Win, Aung K., Hopper, John, Jenkins, Mark A., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fredrick R., Casey, Graham, Cheadle, Jeremy P. ORCID: https://orcid.org/0000-0001-9453-8458, Dunlop, Malcolm G., Tomlinson, Ian P., Houlston, Richard S., Palin, Kimmo and Aaltonen, Lauri A. 2018. Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci. International Journal of Cancer 142 (3) , pp. 540-546. 10.1002/ijc.31076
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May-Wilson, Sebastian, Sud, Amit, Law, Philip J., Palin, Kimmo, Tuupanen, Sari, Gylfe, Alexandra, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Farrington, Susan M., Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Timothy S., Fisher, David, Kerr, Rachel, Kerr, David, Passarelli, Michael N., Figueiredo, Jane C., Buchanan, Daniel D., Win, Aung K., Hopper, John L., Jenkins, Mark A., Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steven, Conti, David, Schumacher, Fred, Casey, Graham, Aaltonen, Lauri A., Cheadle, Jeremy P. ORCID: https://orcid.org/0000-0001-9453-8458, Tomlinson, Ian P., Dunlop, Malcolm G. and Houlston, Richard S. 2017. Pro-inflammatory fatty acid profile and colorectal cancer risk: a Mendelian randomisation analysis. European Journal of Cancer 84 , pp. 228-238. 10.1016/j.ejca.2017.07.034

Summers, Matthew ORCID: https://orcid.org/0000-0001-6387-124X, Smith, Chris, Maughan, Timothy, Kaplan, Rick, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2017. BRAF and NRAS locus-specific variants have different outcomes on survival to colorectal cancer. Clinical Cancer Research 23 (11) , pp. 2742-2749. 10.1158/1078-0432.CCR-16-1541
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Rodriguez-Broadbent, Henry, Law, Philip J., Sud, Amit, Palin, Kimmo, Tuupanen, Sari, Gylfe, Alexandra, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Ripatti, Samuli, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Palotie, Aarno, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Martin, Lynn, Barclay, Ella, Farrington, Susan M., Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Timothy S., Kaplan, Richard, Kerr, Rachel, Kerr, David, Passarelli, Michael N., Figueiredo, Jane C., Buchanan, Daniel D., Win, Aung K., Hopper, John L., Jenkins, Mark A., Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steven, Conti, David, Schumacher, Fred, Casey, Graham, Aaltonen, Lauri A., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Tomlinson, Ian P., Dunlop, Malcolm G. and Houlston, Richard S. 2017. Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer. International Journal of Cancer 140 (12) , pp. 2701-2708. 10.1002/ijc.30709
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Madi, Ayman, Fisher, David, Maughan, Timothy S., Colley, James P., Meade, Angela M., Tejpar, Sabine, Vam den Bosch, Ben, 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 2017. Comprehensive pharmacogenetic profiling of the epidermal growth factor receptor pathway for biomarkers of response to, and toxicity from, cetuximab. Journal of Medical Genetics 54 (8) , pp. 567-571. 10.1136/jmedgenet-2016-104317
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Seligmann, J.F., Fisher, D., Smith, C. G., Richman, S.D., Elliott, F., Brown, S., Adams, Richard ORCID: https://orcid.org/0000-0003-3915-7243, Maughan, T., Quirke, P., Cheadle, Jeremy ORCID: https://orcid.org/0000-0001-9453-8458, Seymour, M. and Middleton, G. 2017. Investigating the poor outcomes of BRAF-mutant advanced colorectal cancer: Analysis from 2530 patients in randomised clinical trials. Annals of Oncology 28 (3) , pp. 562-568. 10.1093/annonc/mdw645
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Jarvis, David, Mitchell, Jonathan S., Law, Philip J., Palin, Kimmo, Tuupanen, Sari, Gylfe, Alexandra, Hanninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Kaprio, Jaakko, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Jarvinen, Heikki, Renkonen-Sinisalo, Laura, Lepisto, Anna, Bohm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Martin, Lynn, Barclay, Ella, Farrington, Susan M., Mimofeeva, Maria N., Meyer, Brian ., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Timothy, Kaplan, Richard, Kerr, Rachel, Buchanan, Daniel D., Win, Aung K., Hopper, John L., Jenkins, Mark A., Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fred, Casey, Graham, Taipale, Jussi, Aaltonen, Lauri A., Cheadle, Jeremy ORCID: https://orcid.org/0000-0001-9453-8458, Dunlop, Malcolm G., Tomlinson, Ian P. and Houlston, Richard S. 2016. Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer. British Journal of Cancer 115 , pp. 266-272. 10.1038/bjc.2016.188
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Orlando, Giulia, Law, Philip J., Palin, Kimmo, Tuupanen, Sari, Gylfe, Alexandra, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Kaprio, Jaakko, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Järvinen, Heikki, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Martin, Lynn, Barclay, Ella, Tenesa, Albert, Farrington, Susan, Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Timothy Stanley, Kaplan, Richard, Kerr, Rachel, Kerr, David, Buchanan, Daniel D., Ko Win, Aung, Hopper, John, Jenkins, Mark, Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fred, Casey, Graham, Taipale, Jussi, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Dunlop, Malcolm G., Tomlinson, Ian P., Aaltonen, Lauri A. and Houlston, Richard S. 2016. Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease. Human Molecular Genetics 25 (11) , pp. 2349-2359. 10.1093/hmg/ddw087
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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

Payne, Y., Williams, M., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Stott, N. C. H., Rowlands, M., Shickle, D., West, G., Meredith, Linda, Goodchild, M., Harper, Peter Stanley and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2008. Carrier screening for cystic fibrosis in primary care: evaluation of a project in South Wales The South Wales Cystic Fibrosis Carrier Screening Research Team. Clinical Genetics 51 (3) , pp. 153-163. 10.1111/j.1399-0004.1997.tb02445.x

Goorden, Susanna M. I., van Woerden, Geeske M., van der Weerd, Louise, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Elgersma, Ype 2007. Cognitive deficits inTsc1+/-mice in the absence of cerebral lesions and seizures. Annals of Neurology 62 (6) , pp. 648-655. 10.1002/ana.21317

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2007. MUTYH-associated polyposis - From defect in base excision repair to clinical genetic testing. DNA Repair 6 (3) , pp. 274-279. 10.1016/j.dnarep.2006.11.001

Dolwani, Sunil ORCID: https://orcid.org/0000-0002-3113-5472, Williams, Geraint Trefor ORCID: https://orcid.org/0000-0003-3768-9940, West, K.P., Newman, J., Stock, D., Williams, A.P., Best, J., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2007. Analysis of inherited MYH (MUTYH) mutations in British Asian patients with colorectal cancer [Letter]. Gut 56 (4) , p. 593. 10.1136/gut.2006.094532

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

Wilson, Catherine Helen, Idziaszczyk, Shelley Alexis, Parry, Lee ORCID: https://orcid.org/0000-0002-4467-9196, Guy, Carol, Griffiths, David Francis Rees, Lazda, Edgar Janis, Bayne, Rosemary A. L., Smith, Andrew J. H., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2005. A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma. Human Molecular Genetics 14 (13) , pp. 1839-1850. 10.1093/hmg/ddi190

Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Jones, Sian, Dolwani, Sunil ORCID: https://orcid.org/0000-0002-3113-5472 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2005. MutYH (MYH) and colorectal cancer. Biochemical Society Transactions 33 (4) , pp. 679-683. 10.1042/BST0330679

Bai, Haibo, Jones, Sian, Guan, Xin, Wilson, Teresa M., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Lu, A-Lien 2005. 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. Nucleic Acids Research 33 (2) , pp. 597-604. 10.1093/nar/gki209

Fleischmann, Christina, Peto, Julian, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Shah, Bindiya, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Houlston, Richard S. 2004. Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer. International Journal of Cancer 109 (4) , pp. 554-558. 10.1002/ijc.20020

Jones, Sian, Lambert, S., Williams, Geraint Trevor ORCID: https://orcid.org/0000-0003-3768-9940, Best, J. M., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2004. Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas. British Journal of Cancer 90 (8) , pp. 1591-1593. 10.1038/sj.bjc.6601747
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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

Kwiatkowski, D.J., Reeve, M. P., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2003. Molecular genetics. Curatolo, Paolo, ed. Tuberous Sclerosis Complex: From Basic Science to Clinical Phenotypes, International Review of Child Neurology (Mac Keith Press), Cambridge: Cambridge University Press, pp. 228-263.

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2003. Exposing the MYtH about base excision repair and human inherited disease. Human Molecular Genetics 12 (s2) , R159-R165. 10.1093/hmg/ddg259

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

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Dolwani, Sunil ORCID: https://orcid.org/0000-0002-3113-5472 and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2003. Inherited defects in the DNA glycosylase MYH cause multiple colorectal adenoma and carcinoma [Letter]. Carcinogenesis 24 (7) , pp. 1281-1282. 10.1093/carcin/bgg068

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

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Sampson, J. 2003. Tuberous sclerosis: genetics. Cooper, David Neil, ed. Encyclopedia of the Human Genome, London: Nature Publishing Group, pp. 650-656.

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

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Krawczak, Michael, Thomas, Meinir W, Hodges, Angela Kaye, Al-Tassan, Nada, Fleming, Nick and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2002. Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours. Cancer Research 62 , pp. 363-366.

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Krawczak, Michael, Thomas, Meinir W., Hodges, Angela Kaye, Al-Tassan, Nada, Fleming, Nick and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2002. Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours. Cancer Research 62 (2) , pp. 363-366.

Antonarakis, Emmanuel 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. Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2. Journal of Biochemical and Biophysical Methods 51 (2) , pp. 161-164. 10.1016/S0165-022X(02)00011-8

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

Soucek, Thomas, Rosner, Margit, Miloloza, Angelina, Kubista, Marion, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Hengstschläger, Markus 2001. Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression. Oncogene 20 (35) , pp. 4904-4909.

Jones, Alistair C., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2001. Low level mosaicism detectable by DHPLC but not by direct sequencing. Human Mutation 17 (3) , pp. 233-234. 10.1002/humu.8

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

Benvenuto, Giovanna, Li, Shaowei, Brown, Samantha J., Braverman, Richard, Vass, William C., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Halley, Dicky J. J., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Wienecke, Ralf and DeClue, Jeffrey E. 2000. The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination. Oncogene 19 (54) , pp. 6306-6316. 10.1038/sj.onc.1204009

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Dobbie, Lorraine, Idziaszczyk, Shelley, Hodges, Angela Kaye, Smith, Andrew J.H., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Young, Janet 2000. Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locus. Mammalian Genome 11 (12) , pp. 1135-1138. 10.1007/s003350010203

Lamlum, Hanan, Al-Tassan, Nada A., Jaeger, Emma, Frayling, Ian Martin, Sieber, Oliver, Bin Reza, Faisal, Eckert, Maria, Rowan, Andrew, Barclay, Ella, Atkin, Wendy, Williams, Christopher, Gilbert, John, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Bell, Jennie, Houlston, Richard, Bodmer, Walter, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Tomlinson, Ian 2000. Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q. Human Molecular Genetics 9 (15) , pp. 2215-2221.

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Reeve, Mary Pat, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Kwiatkowski, David J. 2000. Molecular genetic advances in tuberous sclerosis. Human Genetics 107 (2) , pp. 97-114. 10.1007/s004390000348

Jones, Alistair C., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Hoogendoorn, Bastiaan ORCID: https://orcid.org/0000-0001-9753-169X, Cohen, David and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2000. Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis. Human Genetics 106 (6) , pp. 663-668. 10.1007/s004390000316

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

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

Jones, Alistair C., Austin, Jehannine, Hansen, Nancy, Hoogendoorn, Bastiaan ORCID: https://orcid.org/0000-0001-9753-169X, Oefner, Peter J., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 1999. Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. Clinical Chemistry 45 (8) , pp. 1133-1140.

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

van Slegtenhorst, M., Nellist, M., Nagelkerken, B., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Snell, Russell, van den Ouweland, Ans, Reuser, Arnold, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Halley, D. and van der Sluijs, Peter 1998. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Human Molecular Genetics 7 (6) , pp. 1053-1057. 10.1093/hmg/7.6.1053

Jones, Alistair C., Daniells, Claire E., Snell, Russell G., Tachataki, Maria, Idziaszczyk, Shelley Alexis, Krawczak, Michael, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 1997. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Human Molecular Genetics 6 (12) , pp. 2155-2161. 10.1093/hmg/6.12.2155

Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, Maheshwar, Magitha M., Aspinwall, Richard, Thompson, Peter, Cheadle, Jeremy P ORCID: https://orcid.org/0000-0001-9453-8458, Ravine, David, Roy, Sushmita, Haan, Eric, Bernstein, Jay and Harris, Peter C. 1997. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. American Journal of Human Genetics 61 (4) , pp. 843-851. 10.1086/514888

Maheshwar, Magitha M., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Jones, Alistair C., Myring, Jenny, Fryer, Alan E., Harris, Peter C. and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 1997. The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. Human Molecular Genetics 6 (11) , pp. 1991-1996. 10.1093/hmg/6.11.1991

Kobayashi, Toshiyuki, Urakami, Shinji, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Aspinwall, Richard, Harris, Peter, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Hino, Okio 1997. Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog. Mammalian Genome 8 (8) , pp. 554-558. 10.1007/s003359900502

van Slegtenhorst, Marjon, de Hoogt, Ronald, Hermans, Caroline, Nellist, Mark, Janssen, Bart, Verhoef, Senno, Lindhout, Dick, van den Ouwenland, Ans, Halley, Dicky, Young, Janet, Burley, Mariwyn, Jeremiah, Steve, Woodward, Karen, Nahmias, Joseph, Fox, Margaret, Ekong, Rosemary, Osborne, John, Wolfe, Jonathan, Povey, Sue, Snell, Russell G., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Jones, Alistair C., Tachataki, Maria, Ravine, David, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Reeve, Mary Pat, Richardson, Paul, Wilmer, Friederike, Munro, Cheryl, Hawkins, Trevor L., Sepp, Tiina, Ali, Johari B. M., Ward, Susannah, Green, Andrew J., Yates, John R. W., Kwiatkowska, Jolanta, Henske, Elizabeth P., Short, M. Priscilla, Haines, Jonathan H., Jowziak, Sergiusz and Kwiatkowski, David J. 1997. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277 (5327) , pp. 805-808. 10.1126/science.277.5327.805

Aspinwall, Richard, Rothwell, Dominic G., Roldan- Arjona, Teresa, Anselmino, Catherine, Ward, Christopher J., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Lindahl, Thomas, Harris, Peter C. and Hickson, Ian D. 1997. Cloning and characterization of a functional human homolog of Escherichia coli endonuclease  III. Proceedings of the National Academy of Sciences of the United States of America 94 (1) , pp. 109-114.

Maheshwar, Magitha M., Sandford, Richard, Nellist, Mark, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Sgotto, Barbara, Vaudin, Mark and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 1996. Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish. Human Molecular Genetics 5 (1) , pp. 131-137. 10.1093/hmg/5.1.131

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Meredith, Alison L., Millar-Jones, Lynne and Goodchild, Mary C. 1995. Two CF patients, one homozygous for the 621 + 1G>T splice mutation, the other homozygous for the 1898 + 1G>A splice mutation [Letter]. Journal of Medical Genetics 32 (2) , p. 158. 10.1136/jmg.32.2.158

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Shaw, D. J. 1995. The cystic fibrosis gene: cloning and characterisation. Shaw, D. J., ed. Molecular genetics of human inherited disease, Chichester: Wiley, pp. 41-68.

Schwarz, Martin J., Malone, Geraldine M., Haworth, Andrea, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Meredith, Alison Linda, Gardner, Anne, Sawyer, I. Hilary, Connarty, Margaret, Dennis, Nick, Seller, Anneke, Harris, Ann, Taylor, Rohan, Dear, Simon, Middleton-Price, Helen, McMahon, Cathie, Mayall, Ed, McMahon, Rob, Barton, David E., Giles, Martin, Lindley, Victoria, Plaha, Davinder S., Price, Susan, Sharif, Abid, Cross, Gareth S., Dalton, Ann, Taylor, Graham, Wallace, Andrew, Tassabehji, Mayada, Whittaker, Joanne L., Butler, Rachel, Curtis, Ann, Pinkett, Ros, Gilfillan, Annette J., Brock, David J. H., Higgins, G. Scott, Lanyon, George, Miedzybrodzka, Zosia, Davidson, Mark, Graham, Colin A. and Hill, Alison J. M. 1995. Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories. Human Mutation 6 (4) , pp. 326-333. 10.1002/humu.1380060406

James, C, Houlihan, G. D., Snell, Russell G., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 and Harper, Peter Stanley 1994. Late-onset Huntington's Disease: a clinical and molecular study. Age and Ageing 23 (6) , pp. 445-448. 10.1093/ageing/23.6.445

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Belloni, Elena, Ferrari, Maurizio, Millar-Jones, Lynne and Meredith, Alison Linda 1994. A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin. Human Molecular Genetics 3 (8) , pp. 1431-1432. 10.1093/hmg/3.8.1431

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 1994. Population variation of common cystic fibrosis mutations. Human Mutation 4 (3) , pp. 167-177. 10.1002/humu.1380040302

Cheadle, Jeremy P. ORCID: https://orcid.org/0000-0001-9453-8458, AI-Jader, Layla N. and Meredith, Alison L. 1993. Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Human Molecular Genetics 2 (3) , pp. 317-319. 10.1093/hmg/2.3.317

MacMillan, J. C., Snell, R. G., Tyler, A., Houlihan, G. D., Fenton, I., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Lazarou, L. P., Shaw, J. D. and Harper, Peter Stanley 1993. Molecular analysis and clinical correlations of the Huntington's disease mutation. The Lancet 342 (8877) , pp. 954-958. 10.1016/0140-6736(93)92002-B

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Goodchild, Mary C. and Meredith, Alison L. 1993. Direct sequencing of the complete CFTR gene: the molecular characterisation of 99.5% of CF chromosomes in Wales. Human Molecular Genetics 2 (10) , pp. 1551-1556. 10.1093/hmg/2.10.1551

Snell, Russell G., MacMillan, John C., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Fenton, Iain, Lazarou, Lazarus P., Davies, Peter, MacDonald, Marcy E., Gusella, James F., Harper, Peter Stanley and Shaw, Duncan J. 1993. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nature Genetics 4 (4) , pp. 393-397. 10.1038/ng0893-393

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Al-Jader, Layla N. and Meredith, Alison L. 1993. A novel nonsense mutation, W846XI (amber termination), in exon 14a of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Human Molecular Genetics 2 (7) , pp. 1067-1068. 10.1093/hmg/2.7.1067

al-Jader, Layla N., Meredith, Alison L., Ryley, Henry Charles, Cheadle, Jeremy P. ORCID: https://orcid.org/0000-0001-9453-8458, Maguire, S., Owen, G., Goodchild, M. C. and Harper, Peter Stanley 1992. Severity of chest disease in cystic fibrosis patients in relation to their genotypes. Journal of Medical Genetics 29 (12) , pp. 883-887. 10.1136/jmg.29.12.883

Cheadle, Jeremy P. ORCID: https://orcid.org/0000-0001-9453-8458, Myring, J., al-Jader, Layla and Meredith, L. 1992. Mutation analysis of 184 cystic fibrosis families in Wales. Journal of Medical Genetics 29 (9) , pp. 642-646. 10.1136/jmg.29.9.642

Cheadle, Jeremy P. ORCID: https://orcid.org/0000-0001-9453-8458, al-Jader, Layla N., Goodchild, M> and Meredith, Alison L. 1992. Mild pulmonary disease in a cystic fibrosis child homozygous for R553X. Journal of Medical Genetics 29 (8) , p. 597. 10.1136/jmg.29.8.597

This list was generated on Tue Mar 19 03:51:27 2024 GMT.