Journal Articles
Campbell, Peter J., Getz, Gad, Korbel, Jan O., Stuart, Joshua M., Jennings, Jennifer L., Stein, Lincoln D., Perry, Marc D., Nahal-Bose, Hardeep K., Ouellette, B. F. Francis, Li, Constance H., Rheinbay, Esther, Nielsen, G. Petur, Sgroi, Dennis C., Wu, Chin-Lee, Faquin, William C., Deshpande, Vikram, Boutros, Paul C., Lazar, Alexander J., Hoadley, Katherine A., Louis, David N., Dursi, L. Jonathan, Yung, Christina K., Bailey, Matthew H., Saksena, Gordon, Raine, Keiran M., Buchhalter, Ivo, Kleinheinz, Kortine, Schlesner, Matthias, Zhang, Junjun ... Hamdy, Freddie C. (2020). Pan-cancer analysis of whole genomes. Nature, 578 (7793), 82-93. doi: 10.1038/s41586-020-1969-6
Hayward, Nicholas K., Wilmott, James S., Waddell, Nicola, Johansson, Peter A., Field, Matthew A., Nones, Katia, Patch, Ann-Marie, Kakavand, Hojabr, Alexandrov, Ludmil B., Burke, Hazel, Jakrot, Valerie, Kazakoff, Stephen, Holmes, Oliver, Leonard, Conrad, Sabarinathan, Radhakrishnan, Mularoni, Loris, Wood, Scott, Xu, Qinying, Waddell, Nick, Tembe, Varsha, Pupo, Gulietta M., De Paoli-Iseppi, Ricardo, Vilain, Ricardo E., Shang, Ping, Lau, Loretta M. S., Dagg, Rebecca A., Schramm, Sarah-Jane, Pritchard, Antonia, Dutton-Regester, Ken ... Mann, Graham J. (2017). Whole-genome landscapes of major melanoma subtypes. Nature, 545 (7653), 175-180. doi: 10.1038/nature22071
Scarpa, Aldo, Chang, David K., Nones, Katia, Corbo, Vincenzo, Patch, Ann-Marie, Bailey, Peter, Lawlor, Rita T., Johns, Amber L., Miller, David K., Mafficini, Andrea, Rusev, Borislav, Scardoni, Maria, Antonello, Davide, Barbi, Stefano, Sikora, Katarzyna O., Cingarlini, Sara, Vicentini, Caterina, McKay, Skye, Quinn, Michael C.J., Bruxner, Timothy J.C., Christ, Angelika N., Harliwong, Ivon, Idrisoglu, Senel, McLean, Suzanne, Nourse, Craig, Nourbakhsh, Ehsan, Wilson, Peter J., Anderson, Matthew J., Fink, J. Lynn ... Grimmond, Sean M. (2017). Whole-genome landscape of pancreatic neuroendocrine tumours. Nature, 543 (7643), 65-71. doi: 10.1038/nature21063
Humphris, Jeremy L., Patch, Ann-Marie, Nones, Katia, Bailey, Peter J., Johns, Amber L., McKay, Skye, Chang, David K., Miller, David K., Pajic, Marina, Kassahn, Karin S., Quinn, Michael C. J., Bruxner, Timothy J. C., Christ, Angelika N., Harliwong, Ivon, Idrisoglu, Senel, Manning, Suzanne, Nourse, Craig, Nourbakhsh, Ehsan, Stone, Andrew, Wilson, Peter J., Anderson, Matthew, Fink, J. Lynn, Holmes, Oliver, Kazakoff, Stephen, Leonard, Conrad, Newell, Felicity, Waddell, Nick, Wood, Scott, Mead, Ronald S. ... Biankin, Andrew V. (2017). Hypermutation in pancreatic cancer. Gastroenterology, 152 (1), 68-74.e2. doi: 10.1053/j.gastro.2016.09.060
Secrier, Maria, Li, Xiaodun, De Silva, Nadeera, Eldridge, Matthew D., Contino, Gianmarco, Bornschein, Jan, Macrae, Shona, Grehan, Nicola, O'Donovan, Maria, Miremadi, Ahmad, Yang, Tsun-Po, Bower, Lawrence, Chettouh, Hamza, Crawte, Jason, Galeano-Dalmau, Núria, Grabowska, Anna, Saunders, John, Underwood, Tim, Waddell, Nicola, Barbour, Andrew P., Nutzinger, Barbara, Achilleos, Achilleas, Edwards, Paul A. W., Lynch, Andy G., Tavare, Simon, Fitzgerald, Rebecca C., Noorani, Ayesha, Elliott, Rachael Fels, Weaver, Jamie ... Grimmond, Sean M. (2016). Mutational signatures in esophageal adenocarcinoma define etiologically distinct subgroups with therapeutic relevance. Nature Genetics, 48 (10), 1131-1141. doi: 10.1038/ng.3659
Johansson, Peter A., Pritchard, Antonia L., Patch, Ann-Marie, Wilmott, James S., Pearson, John V., Waddell, Nicola, Scolyer, Richard A., Mann, Graham J. and Hayward, Nicholas K. (2016). Mutation load in melanoma is affected by MC1R genotype. Pigment Cell & Melanoma Research, 30 (2), 255-258. doi: 10.1111/pcmr.12571
Krause, Lutz, Nones, Katia , Loffler, Kelly A., Nancarrow, Derek, Oey, Harald , Tang, Yue Hang, Wayte, Nicola J., Patch, Ann Marie, Patel, Kalpana , Brosda, Sandra, Manning, Suzanne, Lampe, Guy, Clouston, Andrew, Thomas, Janine, Stoye, Jens, Hussey, Damian J., Watson, David I., Lord, Reginald V., Phillips, Wayne A., Gotley, David, Smithers, B. Mark, Whiteman, David C., Hayward, Nicholas K., Grimmond, Sean M., Waddell, Nicola and Barbour, Andrew P. (2016). Identification of the CIMP-like subtype and aberrant methylation of members of the chromosomal segregation and spindle assembly pathways in esophageal adenocarcinoma. Carcinogenesis, 37 (4), 356-365. doi: 10.1093/carcin/bgw018
Alioto, Tyler S., Buchhalter, Ivo, Derdak, Sophia, Hutter, Barbara, Eldridge, Matthew D., Hovig, Eivind, Heisler, Lawrence E., Beck, Timothy A., Simpson, Jared T., Tonon, Laurie, Sertier, Anne-Sophie, Patch, Ann-Marie, Jager, Natalie, Ginsbach, Philip, Drews, Ruben, Paramasivam, Nagarajan, Kabbe, Rolf, Chotewutmontri, Sasithorn, Diessl, Nicolle, Previti, Christopher, Schmidt, Sabine, Brors, Benedikt, Feuerbach, Lars, Heinold, Michael, Grobner, Susanne, Korshunov, Andrey, Tarpey, Patrick S., Butler, Adam P., Hinton, Jonathan ... Gut, Ivo G. (2015). A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing. Nature Communications, 6 (10001) 10001, 10001. doi: 10.1038/ncomms10001
Patch, Ann-Marie, Christie, Elizabeth L., Etemadmoghadam, Dariush, Garsed, Dale W., George, Joshy, Fereday, Sian, Nones, Katia, Cowin, Prue, Alsop, Kathryn, Bailey, Peter J., Kassahn, Karin S., Newell, Felicity, Quinn, Michael C. J., Kazakoff, Stephen, Quek, Kelly, Wilhelm-Benartzi, Charlotte, Curry, Ed, Leong, Huei San, Australian Ovarian Cancer Study Group, Hamilton, Anne, Mileshkin, Linda, Au-Yeung, George, Kennedy, Catherine, Hung, Jillian, Chiew, Yoke-Eng, Harnett, Paul, Friedlander, Michael, Quinn, Michael, Pyman, Jan ... Bowtell, David D. L. (2015). Corrigendum: Whole-genome characterization of chemoresistant ovarian cancer. Nature, 527 (7578), 398-398. doi: 10.1038/nature15716
Patch, Ann-Marie, Christie, Elizabeth L., Etemadmoghadam, Dariush, Garsed, Dale W., George, Joshy, Fereday, Sian, Nones, Katia, Cowin, Prue, Alsop, Kathryn, Bailey, Peter J., Kassahn, Karin S., Newell, Felicity, Quinn, Michael C. J., Kazakoff, Stephen, Quek, Kelly, Wilhelm-Benartzi, Charlotte, Curry, Ed, Leong, Huei San, The Australian Ovarian Cancer Study Group, Hamilton, Anne, Mileshkin, Linda, Au-Yeung, George, Kennedy, Catherine, Hung, Jillian, Chiew, Yoke-Eng, Harnett, Paul, Friedlander, Michael, Quinn, Michael, Pyman, Jan ... Bowtell, David D. L. (2015). Whole-genome characterization of chemoresistant ovarian cancer. Nature, 521 (7553), 489-494. doi: 10.1038/nature14410
Waddell, Nicola, Pajic, Marina, Patch, Anne-Marie, Chang, David K, Kassahn, Karin S, Bailey, Peter, Johns, Amber L, Miller, David, Nones, Katia, Quek, Kelly, Quinn, Michael C. J, Robertson, Alan J, Fadlullah, Muhammad Z.H, Bruxner, Tim J.C, Christ, Angelika N, Harliwong, Ivon, Idrisoglu, Senel, Manning, Suzanne, Nourse, Craig, Nourbakhsh, Ehsan, Wani, Shivangi, Wilson, Peter J, Markham, Emma, Cloonan, Nicole, Anderson, Matthew J, Fink, J. Lynn, Holmes, Oliver, Kazakoff, Stephen H, Leonard, Conrad ... Grimmond, Sean M (2015). Whole genomes redefine the mutational landscape of pancreatic cancer. Nature, 518 (7540), 495-501. doi: 10.1038/nature14169
Nones, Katia, Waddell, Nicola, Wayte, Nicci, Patch, Ann-Marie, Bailey, Peter, Newell, Felicity, Holmes, Oliver, Fink, J. Lynn, Quinn, Michael C. J., Tang, Yue Hang, Lampe, Guy, Quek, Kelly, Loffler, Kelly A., Manning, Suzanne, Idrisoglu, Senel, Miller, David, Xu, Qinying, Waddell, Nick, Wilson, Peter J., Bruxner, Timothy J. C., Christ, Angelika N., Harliwong, Ivon, Nourse, Craig, Nourbakhsh, Ehsan, Anderson, Matthew, Kazakoff, Stephen, Leonard, Conrad, Wood, Scott, Simpson, Peter T. ... Barbour, Andrew P. (2014). Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis. Nature Communications, 5 (1) 6224, 5224.1-5224.9. doi: 10.1038/ncomms6224
Nones, Katia, Waddell, Nic, Song, Sarah, Patch, Ann-Marie, Miller, David, Johns, Amber, Wu, Jianmin, Kassahn, Karin S., Wood, David, Bailey, Peter, Fink, Lynn, Manning, Suzanne, Christ, Angelika N., Nourse, Craig, Kazakoff, Stephen, Taylor, Darrin, Leonard, Conrad, Chang, David K., Jones, Marc D., Thomas, Michelle, Watson, Clare, Pinese, Mark, Cowley, Mark, Rooman, Ilse, Pajic, Marina, Butturini, Giovanni, Malpaga, Anna, Corbo, Vincenzo, Crippa, Stefano ... Grimmond, Sean M. (2014). Genome-wide DNA methylation patterns in pancreatic ductal adenocarcinoma reveal epigenetic deregulation of SLIT-ROBO, ITGA2 and MET signaling. International Journal of Cancer, 2014 (5), 1110-1118. doi: 10.1002/ijc.28765
Quek, Kelly, Nones, Katia, Patch, Ann-Marie, Fink, J. Lynn, Newell, Felicity, Cloonan, Nicole, Miller, David, Fadlullah, Muhammad Z. H., Kassahn, Karin, Christ, Angelika N., Bruxner, Timothy J. C., Manning, Suzanne, Harliwong, Ivon, Idrisoglu, Senel, Nourse, Craig, Nourbakhsh, Ehsan, Wani, Shivangi, Steptoe, Anita, Anderson, Matthew, Holmes, Oliver, Leonard, Conrad, Taylor, Darrin, Wood, Scott, Xu, Qinying, Australian Pancreatic Cancer Genome Initiative, Wilson, Peter, Biankin, Andrew V., Pearson, John V., Waddell, Nic and Grimmond, Sean M. (2014). A workflow to increase verification rate of chromosomal structural rearrangements using high-throughput next-generation sequencing. BioTechniques, 57 (1), 31-38. doi: 10.2144/000114189
Kassahn, Karin S., Holmes, Oliver, Nones, Katia, Patch, Ann-Marie, Miller, David K., Christ, Angelika K., Harliwong, Ivon, Bruxner, Timothy J., Xu, Qinying, Anderson, Matthew, Wood, Scott, Leonard, Conrad, Taylor, Darrin, Newell, Felicity, Song, Sarah, Idrisoglu, Senel, Nourse, Craig, Nourbakhsh, Ehsan, Manning, Suzanne, Wani, Shivangi, Steptoe, Anita, Pajic, Marina, Cowley, Mark J., Pinese, Mark, Chang, David K., Gill, Anthony J., Johns, Amber L., Wu, Jianmin, Wilson, Peter J. ... Pearson, John V. (2013). Somatic point mutation calling in low cellularity tumors. PloS One, 8 (11) e74380, e74380.1-e74380.10. doi: 10.1371/journal.pone.0074380
Chou, Angela, Waddell, Nicola, Cowley, Mark J., Gill, Anthony J., Chang, David K., Patch, Ann-Marie, Nones, Katia, Wu, Jianmin, Pinese, Mark, Johns, Amber L., Miller, David K., Kassahn, Karin S., Nagrial, Adnan M., Wasan, Harpreet, Goldstein, David, Toon, Christopher W., Chin, Venessa, Chantrill, Lorraine, Humphris, Jeremy, Mead, R. Scott, Rooman, Ilse, Samra, Jaswinder S., Pajic, Marina, Musgrove, Elizabeth A., Pearson, John V., Morey, Adrienne L., Grimmond, Sean M. and Biankin, Andrew V. (2013). Clinical and molecular characterization of HER2 amplified-pancreatic cancer. Genome Medicine, 5 (8) 78, 78.1-78.10. doi: 10.1186/gm482
Biankin, Andrew V., Waddell, Nicola, Kassahn, Karin S., Gingras, Marie-Claude, Muthuswamy, Lakshmi B., Johns, Amber L., Miller, David K., Wilson, Peter J., Patch, Ann-Marie, Wu, Jianmin, Chang, David K., Cowley, Mark J., Gardiner, Brooke B., Song, Sarah, Harliwong, Ivon, Idrisoglu, Senel, Nourse, Craig, Nourbakhsh, Ehsan, Manning, Suzanne, Wani, Shivangi, Gongora, Milena, Pajic, Marina, Scarlett, Christopher J., Gill, Anthony J., Pinho, Andreia V., Rooman, Ilse, Anderson, Matthew, Holmes, Oliver, Leonard, Conrad ... Grimmond, Sean M. (2012). Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature, 491 (7424), 399-405. doi: 10.1038/nature11547
Shaw-Smith, Charles, Flanagan, Sarah E., Patch, Ann-Marie, Grulich-Henn, Juergen, Habeb, Abdelhadi M., Hussain, Khalid, Pomahacova, Renata, Matyka, Krystyna, Abdullah, Mohamed, Hattersley, Andrew T. and Ellard, Sian (2012). Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia. Pediatric Diabetes, 13 (4), 307-314. doi: 10.1111/j.1399-5448.2012.00855.x
Mann, Karen M., Ward, Jerrold M., Yew, Christopher Chin Kuan, Kovochich, Anne, Dawson, David W., Black, Michael A., Brett, Benjamin T., Sheetz, Benjamin T., Dupuy, Adam J., Chang, David K., Biankin, Andrew V., Waddell, Nicola, Kassahn, Karin S., Grimmond, Sean M., Rust, Alistair G., Adams, David J., Jenkins, Nancy A., Copeland, Neal G., Australian Pancreatic Cancer Genome Initiative, Miller, David K., Wilson, Peter J., Patch, Ann-Marie, Song, Sarah, Harliwong, Ivon, Idrisoglu, Senel, Nourse, Craig, Nourbakhsh, Ehsan, Manning, Suzanne, Wani, Shivangi ... Pearson, John V. (2012). Sleeping Beauty mutagenesis reveals cooperating mutations and pathways in pancreatic adenocarcinoma. Proceedings of the National Academy of Sciences of the United States of America, 109 (16), 5934-5941. doi: 10.1073/pnas.1202490109
Flanagan, Sarah E., Patch, Ann-Marie, Locke, Jonathan M., Akcay, Teoman, Simsek, Enver, Alaei, Mohammadreza, Yekta, Zeinab, Desai, Meena, Kapoor, Ritika R., Hussain, Khalid and Ellard, Sian (2011). Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. Journal of Clinical Endocrinology and Metabolism, 96 (3), E498-E502. doi: 10.1210/jc.2010-1906
Dimitri, P., Warner, J. T., Minton, J. A. L, Patch, A. M., Ellard, S., Hattersley, A. T., Barr, S., Hawkes, D., Wales, J. K. and Gregory, J. W. (2011). Novel GLIS3 mutations demonstrate an extended multisystem phenotype. European Journal of Endocrinology, 164 (3), 437-443. doi: 10.1530/EJE-10-0893
Hanley, Karen Piper, Hearn, Tom, Berry, Andrew, Carvell, Melanie J., Patch, Ann-Marie, Williams, Louise J., Sugden, Sarah A., Wilson, David I., Ellard, Sian and Hanley, Neil A. (2010). In vitro expression of NGN3 identifies RAB3B as the predominant Ras-associated GTP-binding protein 3 family member in human islets. Journal of Endocrinology, 207 (2), 151-161. doi: 10.1677/JOE-10-0120
Flanagan, Sarah E., Patch, Ann-Marie and Ellard, Sian (2010). Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genetic Testing and Molecular Biomarkers, 14 (4), 533-537. doi: 10.1089/gtmb.2010.0036
Garin, Intza, Edghill, Emma L., Akerman, Ildem, Rubio-Cabezas, Oscar, Rica, Itxaso, Locke, Jonathan M., Maestro, Miguel Angel, Alshaikh, Adnan, Bundak, Ruveyde, del Castillo, Gabriel, Deeb, Asma, Deiss, Dorothee, Fernandez, Juan M., Godbole, Koumudi, Hussain, Khalid, O'Connell, Michele, Klupa, Thomasz, Kolouskova, Stanislava, Mohsin, Fauzia, Perlman, Kusiel, Sumnik, Zdenek, Rial, Jose M., Ugarte, Estibaliz, Vasanthi, Thiruvengadam, Neonatal Diabetes International Group, Johnstone, Karen, Flanagan, Sarah E., Martinez, Rosa, Castano, Carlos ... Hattersley, Andrew T. (2010). Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proceedings of the National Academy of Sciences of the USA, 107 (7), 3105-3110. doi: 10.1073/pnas.0910533107
Smith, Stuart B., Qu, Hui-Qi, Taleb, Nadine, Kishimoto, Nina Y., Scheel, David W., Lu, Yang, Patch, Ann-Marie, Grabs, Rosemary, Wang, Juehu, Lynn, Francis C., Miyatsuka, Takeshi, Mitchell, John, Seerke, Rina, Désir, Julie, Vanden Eijnden, Serge, Abramowicz, Marc, Kacet, Nadine, Weill, Jacques, Renard, Marie-Ève, Gentile, Mattia, Hansen, Inger, Dewar, Ken, Hattersely, Andrew T., Wang, Rennian, Wilson, Maria E., Johnson, Jeffrey D., Polychronakos, Constantin and German, Michael S. (2010). Rfx6 directs islet formation and insulin production in mice and humans. Nature, 463 (7282), 775-780. doi: 10.1038/nature08748
Barbarini, D. S., Haslinger, V., Schmidt, K., Patch, A. M., Muller, G. and Simma, B. (2009). Neonatal diabetes mellitus due to pancreas agenesis: A new case report and review of the literature. Pediatric Diabetes, 10 (7), 487-491. doi: 10.1111/j.1399-5448.2009.00523.x
Rubio-Cabezas, Oscar, Patch, Ann-Marie, Minton, Jayne A. L., Flanagan, Sarah E., Edghill, Emma L., Hussain, Khalid, Balafrej, Amina, Deeb, Asma, Buchanan, Charles R., Jefferson, Ian G., Mutair, Angham, The Neonatal Diabetes International Collaborative Group, Hattersley, Andrew T. and Ellard, Sian (2009). Wolcott-Rallison Syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. The Journal of Clinical Endocrinology and Metabolism, 94 (11), 4162-4170. doi: 10.1210/jc.2009-1137
Klupa, T., Kowalska, I., Wyka, K., Skupien, J., Patch, A.-M., Flanagan, S. E., Noczynska, A., Arciszewska, M., Ellard, S., Hattersley, A. T., Sieradzki, J., Mlynarski, W. and Malecki, M. T. (2009). Mutations in the ABCC8 (SUR1 subunit of the K-ATP channel) gene are associated with a variable clinical phenotype. Clinical Endocrinology, 71 (3), 358-362. doi: 10.1111/j.1365-2265.2008.03478.x
Rubio-Cabezas, Oscar, Puri, Vishwajeet, Murano, Incoronata, Saudek, Vladimir, Semple, Robert K., Dash, Satya, Hyden, Caroline S. S., Bottomley, William, Vigouroux, Corinne, Magre, Jocelyne, Raymond-Barker, Philippa, Murgatroyd, Peter R., Chawla, Anil, Skepper, Jeremy N., Chatterjee, V. Krishna, Suliman, Sara, LD Screening Consortium, Patch, Ann-Marie, Agarwal, Anil K., Garg, Abhimanyu, Barroso, Ines, Cinti, Saverio, Czech, Michael P., Argente, Jesus, O'Rahilly, Stephen and Savage, David B. (2009). Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. EMBO Molecular Medicine, 1 (5), 280-287. doi: 10.1002/emmm.200900037
Edghill, Emma L., Flanagan, Sarah E., Patch, Ann-Marie, Boustred, Chris, Parrish, Andrew, Shields, Beverley, Shepherd, Maggie H., Hussain, Khalid, Kapoor, Ritika R., Malecki, Maciej, MacDonald, Michael J., Støy, Julie, Steiner, Donald F., Philipson, Louis H., Bell, Graeme I., The Neonatal Diabetes International Collaborative Group, Hattersley, Andrew T. and Ellard, Sian (2008). Insulin mutation screening in 1,044 patients with diabetes: Mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes, 57 (4), 1034-1042. doi: 10.2337/db07-1405
Rafiq, Meena, Flanagan, Sarah E., Patch, Ann-Marie, Shields, Beverley M., Ellard, Sian, Hattersley, Andrew T. and Neonatal Diabetes International Collaborative Group (2008). Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes Care, 31 (2), 204-209. doi: 10.2337/dc07-1785
Flanagan, S. E., Patch, A. M., Mackay, D. J. G., Edghill, E. L., Gloyn, A. L., Robinson, D., Shield, J. P. H., Temple, K., Ellard, S. and Hattersley, A. T. (2008). Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (vol 56, pg 1930, 2007). Diabetes, 57 (2), 523-523. doi: 10.2337/db08-er02
De Wet, Heidi, Rees, Mathew G., Shimomura, Kenju, Aittoniemi, Jussi, Patch, Ann-Marie, Flanagan, Sarah E., Ellard, Sian, Hattersley, Andrew T., Sansom, Mark S. P. and Ashcroft, Frances M. (2007). Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes. Proceedings of the National Academy of Sciences of the United States of America, 104 (48), 18988-18992. doi: 10.1073/pnas.0707428104
Støy, Julie, Edghill, Emma L., Flanagan, Sarah E., Ye, Honggang, Paz, Veronica P., Pluzhnikov, Anna, Below, Jennifer E., Hayes, M. Geoffrey, Cox, Nancy J., Lipkind, Gregory M., Lipton, Rebecca B., Greeley, Siri Atma W., Patch, Ann-Marie, Ellard, Sian, Steiner, Donald F., Hattersley, Andrew T., Philipson, Louis H. and Bell, Graeme I. (2007). Insulin gene mutations as a cause of permanent neonatal diabetes. Proceedings of the National Academy of Sciences of USA, 104 (38), 15040-15044. doi: 10.1073/pnas.0707291104
Ellard, Sian, Flanagan, Sarah E., Girard, Christophe A., Patch, Ann-Marie, Harries, Lorna W., Parrish, Andrew, Edghill, Emma L., Mackay, Deborah J. G., Proks, Peter, Shimomura, Kenju, Haberland, Holger, Carson, Dennis J., Sheild, Julian P. H., Hattersley, Andrew T. and Ashcroft, Frances M. (2007). Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. American Journal of Human Genetics, 81 (2), 375-382. doi: 10.1086/519174
Flanagan, Sarah E., Patch, Ann-Marie, Mackay, Deborah J. G., Edghill, Emma L., Gloyn, Anna L., Robinson, David, Shield, Julian P. H., Temple, Karen, Ellard, Sian and Hattersley, Andrew T. (2007). Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes, 56 (7), 1930-1937. doi: 10.2337/db07-0043
Frayling, Timothy M., Timpson, Nicholas J., Weedon, Michael N., Zeggini, Eleftheria, Freathy, Rachel M., Lindgren, Cecilia M., Perry, John R. B., Elliott, Katherine S., Lango, Hana, Rayner, Nigel W., Shields, Beverley, Harries, Lorna W., Barrett, Jeffrey C., Ellard, Sian, Groves, Christopher J., Knight, Bridget, Patch, Ann-Marie, Ness, Andrew R., Ebrahim, Shah, Lawlor, Debbie A., Ring, Susan M., Ben-Shlomo, Yoav, Jarvelin, Marjo-Riitta, Sovio, Ulla, Bennett, Amanda J., Melzer, David, Ferrucci, Luigi, Loos, Ruth J. F., Barroso, Inês ... Wellcome Trust Case Control (2007). A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science, 316 (5826), 889-894. doi: 10.1126/science.1141634
Patch, Ann-Marie and Aves, Stephen J. (2007). Fingerprinting fission yeast: Polymorphic markers for molecular genetic analysis of Schizosaccharomyces pombe strains. Microbiology, 153 (3), 887-897. doi: 10.1099/mic.0.2006/001669-0
Boby, T., Patch, A.-M. and Aves, S. J. (2005). TRbase: a database relating tandem repeats to disease genes for the human genome. Bioinformatics, 21 (6), 811-816. doi: 10.1093/bioinformatics/bti059
Conference Papers
Saunus, J. M., Quinn, M. C. J., Patch, A. M., Pearson, J. V., Bailey, P. J., Cloonan, N., Nones, K., Miller, D., Mariasegaram, M., Lau, Q., Jeffree, L., Khanna, K. K., Chenevix-Trench, G., Grimmond, S. M., Simpson, P. T., Waddell, N. and Lakhani, S. R. (2015). Genomic and transcriptomic landscapes of human brain metastases. 15th International Biennial Congress of the Metastasis Research Society, Heidelberg, Germany, June 28th–July 1st, 2014. Dordrecht, Netherlands: Springer Netherlands. doi: 10.1007/s10585-015-9708-3
Minton, Jal, Rubio-Cabezas, O, Patch, AM, Flanagan, SF, Edghill, E, Hussain, K, Hattersley, AT and Ellard, S (2009). Homozygosity mapping as a novel tool to identify patients with Wolcott-Rallison syndrome among infants with permanent neonatal diabetes. British Human Genetics Conference, York England, Aug 31-Sep 02, 2009. UNIV CHICAGO PRESS.
Klupa, T., Kowalska, I., Wyka, K., Patch, A. M., Skupien, J., Noczynska, A., Ellard, S., Hattersley, A., Sieradzki, J., Mlynarski, W. and Malecki, M. T. (2008). Variable clinical picture of mutations in the ABCC8 gene: can it be modified by the sensitivity to insulin or the islet-specific antibodies?. 44th EASD Annual Meeting of the European Association for the Study of Diabetes, Rome, Italy, 8-11 September 2008. Heidelberg, Germany: Springer. doi: 10.1007/s00125-008-1117-6
Edghill, E. L., Locke, J., Flanagan, S. E., Patch, A. M., Harries, L. W., Ellard, S. and Hattersley, A. T. (2008). Recessive mutations in the INS gene; a novel common cause of permanent neonatal diabetes in consanguineous pedigrees. 44th EASD Annual Meeting of the European Association for the Study of Diabetes, Rome, Italy, 8-11 September 2008. Heidelberg, Germany: Springer. doi: 10.1007/s00125-008-1117-6
Flanagan, Sarah, Edghill, Emma, Patch, Ann-Marie, Minton, Jayne, Ellard, Sian and Hattersley, Andrew (2008). Genetic heterogeneity in permanent neonatal diabetes. 47th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Istanbul, Turkey, 20-23 September 2008. WILLIAMS & WILKINS.
Ellard, S, Edghill, EL, Locke, J, Flanagan, SE, Patch, AM, Harries, LW and Hattersley, AT (2008). Both recessive and dominant INS gene mutations are a common cause of neonatal diabetes. British Human Genetics Conference, York England, Sep 15-17, 2008.
Slingerland, AS, Flanagan, SE, Shields, B, Patch, AM, Bruining, GJ, Noordam, K, Cinek, O, Malecki, M, Gach, A, Mlynarski, W, Sumnik, Z, Dzivite, I, Ellard, SE and Hattersley, AT (2007). Prevalence and incidence of neonatal diabetes in children and adults in the largest international series: increased interest, extended definition, continued misclassification?. 43rd Annual Meeting of the European-Association-for-the-Study-of-Diabetes, Amsterdam Netherlands, Sep 18-21, 2007.
Klupa, T, Gach, A, Patch, AM, Skupien, J, Pietrzak, I, Ellard, S, Hattersley, A, Mlynarski, W, Malecki, MT and Sieradzki, J (2007). The prevalence estimation of PNDM in Poland: the relative contribution of mutations in KCNJ11 and ABCC8 genes. 43rd Annual Meeting of the European-Association-for-the-Study-of-Diabetes, Amsterdam Netherlands, Sep 18-21, 2007.
Patch, A. M., Flanagan, S. E., Boustred, C., Hattersley, A. T. and Ellard, S. (2007). Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period. 8th Servier-IGIS Symposium: Animal Models of Islet Dysfunction, Saint Jean Cap Ferrat, France, 8-11 March 2007. Oxford, U.K.: Wiley-Blackwell Publishing. doi: 10.1111/j.1463-1326.2007.00772.x