Associate Professor Ann-Marie Patch

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, Newell, Felicity, Fitzgerald, Anna, Shang, Catherine A., Grimmond, Sean M., Pickett, Hilda A., Yang, Jean Y., Stretch, Jonathan R., Behren, Andreas, Kefford, Richard F., Hersey, Peter, Long, Georgina V., Cebon, Jonathan, Shackleton, Mark, Spillane, Andrew J., Saw, Robyn P. M., Lopez-Bigas, Nuria, Pearson, John V., Thompson, John F., Scolyer, Richard A. and 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, Newell, Felicity, Waddell, Nick, Holmes, Oliver, Kazakoff, Stephen H., Leonard, Conrad, Wood, Scott, Xu, Qinying, Nagaraj, Shivashankar Hiriyur, Amato, Eliana, Dalai, Irene, Bersani, Samantha, Cataldo, Ivana, Dei Tos, Angelo P., Capelli, Paola, Davì, Maria Vittoria, Landoni, Luca, Malpaga, Anna, Miotto, Marco, Whitehall, Vicki L.J., Leggett, Barbara A., Harris, Janelle L., Harris, Jonathan, Jones, Marc D., Humphris, Jeremy, Chantrill, Lorraine A., Chin, Venessa, Nagrial, Adnan M., Pajic, Marina, Scarlett, Christopher J., Pinho, Andreia, Rooman, Ilse, Toon, Christopher, Wu, Jianmin, Pinese, Mark, Cowley, Mark, Barbour, Andrew, Mawson, Amanda, Humphrey, Emily S., Colvin, Emily K., Chou, Angela, Lovell, Jessica A., Jamieson, Nigel B., Duthie, Fraser, Gingras, Marie-Claude, Fisher, William E., Dagg, Rebecca A., Lau, Loretta M.S., Lee, Michael, Pickett, Hilda A., Reddel, Roger R., Samra, Jaswinder S., Kench, James G., Merrett, Neil D., Epari, Krishna, Nguyen, Nam Q., Zeps, Nikolajs, Falconi, Massimo, Simbolo, Michele, Butturini, Giovanni, Van Buren, George, Partelli, Stefano, Fassan, Matteo, Khanna, Kum Kum, Gill, Anthony J., Wheeler, David A., Gibbs, Richard A., Musgrove, Elizabeth A., Bassi, Claudio, Tortora, Giampaolo, Pederzoli, Paolo, Pearson, John V., Waddell, Nicola, Biankin, Andrew V. and 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., Xu, Qinying, Wu, Jianmin, Pinese, Mark, Cowley, Mark J., Jones, Marc D., Nagrial, Adnan M., Chin, Venessa T., Chantrill, Lorraine A., Mawson, Amanda, Chou, Angela, Scarlett, Christopher J., Pinho, Andreia V., Rooman, Ilse, Giry-Laterriere, Marc, Samra, Jaswinder S., Kench, James G., Merrett, Neil D., Toon, Christopher W., Epari, Krishna, Nguyen, Nam Q., Barbour, Andrew, Zeps, Nikolajs, Jamieson, Nigel B., McKay, Colin J., Carter, C. Ross, Dickson, Euan J., Graham, Janet S., Duthie, Fraser, Oien, Karin, Hair, Jane, Morton, Jennifer P., Sansom, Owen J., Grutzmann, Robert, Hruban, Ralph H., Maitra, Anirban, Iacobuzio-Donahue, Christine A., Schulick, Richard D., Wolfgang, Christopher L., Morgan, Richard A., Lawlor, Rita T., Rusev, Borislav, Corbo, Vincenzo, Salvia, Roberto, Cataldo, Ivana, Tortora, Giampaolo, Tempero, Margaret A., Hofmann, Oliver, Eshleman, James R., Pilarsky, Christian, Scarpa, Aldo, Musgrove, Elizabeth A., Gill, Anthony J., Pearson, John V., Grimmond, Sean M., Waddell, Nicola and 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, Ross-Innes, Caryn, Smith, Laura, Abdullahi, Zarah, De La Rue, Rachel, Cluroe, Alison, Malhotra, Shalini, Hardwick, Richard, Ford, Hugo, Smith, Mike L., Davies, Jim, Turkington, Richard, Hayes, Stephen J., Ang, Yeng, Preston, Shaun R., Oakes, Sarah, Bagwan, Izhar, Save, Vicki, Skipworth, Richard J. E., Hupp, Ted R., O'Neill, J. Robert, Tucker, Olga, Taniere, Philippe, Noble, Fergus, Owsley, Jack, Lovat, Laurence, Haidry, Rehan, Eneh, Victor, Crichton, Charles, Barr, Hugh, Shepherd, Neil, Old, Oliver, Lagergren, Jesper, Gossage, James, Davies, Andrew, Chang, Fuju, Zylstra, Janine, Sanders, Grant, Berrisford, Richard, Harden, Catherine, Bunting, David, Lewis, Mike, Cheong, Ed, Kumar, Bhaskar, Parsons, Simon L., Soomro, Irshad, Kaye, Philip, Collier, Pamela, Igali, Laszlo, Welch, Ian, Scott, Michael, Sothi, Shamila, Suortamo, Sari, Lishman, Suzy, Beardsmore, Duncan, Francies, Hayley E., Garnett, Mathew J., Pearson, John V., Nones, Katia, Patch, Ann-Marie and 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

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, Jones, David, Menzies, Andrew, Raine, Keiran, Shepherd, Rebecca, Stebbings, Lucy, Teague, Jon W., Ribeca, Paolo, Giner, Francesc, Beltran, Sergi, Raineri, Emanuele, Dabad, Marc, Heath, Simon C., Gut, Marta, Denroche, Robert E., Harding, Nicholas J., Yamaguchi, Takafumi N., Fujimoto, Akihiro, Nakagawa, Hidewaki, Quesada, Victor, Valdes-Mas, Rafael, Nakken, Sigve, Vodak, Daniel, Bower, Lawrence, Lynch, Andrew G., Anderson, Charlotte L., Waddell, Nicola, Pearson, John V., Grimmond, Sean M., Peto, Myron, Spellman, Paul, He, Minghui, Kandoth, Cyriac, Lee, Semin, Zhang, John, Letourneau, Louis, Ma, Singer, Seth, Sahil, Torrents, David, Xi, Liu, Wheeler, David A., Lopez-Otin, Carlos, Campo, Elias, Campbell, Peter J., Boutros, Paul C., Puente, Xose S., Gerhard, Daniela S., Pfister, Stefan M., McPherson, John D., Hudson, Thomas J., Schlesner, Matthias, Lichter, Peter, Eils, Roland, Jones, David T.W. and Gut, Ivo G. (2015) A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing. Nature Communications, 6 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, Cordner, Stephen, O'Brien, Patricia, Leditschke, Jodie, Young, Greg, Strachan, Kate, Waring, Paul, Azar, Walid, Mitchell, Chris, Traficante, Nadia, Hendley, Joy, Thorne, Heather, Shackleton, Mark, Miller, David K., Arnau, Gisela Mir, Tothill, Richard W., Holloway, Timothy P., Semple, Timothy, Harliwong, Ivon, Nourse, Craig, Nourbakhsh, Ehsan, Manning, Suzanne, Idrisoglu, Senel, Bruxner, Timothy J. C., Christ, Angelika N., Poudel, Barsha, Holmes, Oliver, Anderson, Matthew, Leonard, Conrad, Lonie, Andrew, Hall, Nathan, Wood, Scott, Taylor, Darrin F., Xu, Qinying, Fink, J. Lynn, Waddell, Nick, Drapkin, Ronny, Stronach, Euan, Gabra, Hani, Brown, Robert, Jewell, Andrea, Nagaraj, Shivashankar H., Markham, Emma, Wilson, Peter J., Ellul, Jason, McNally, Orla, Doyle, Maria A., Vedururu, Ravikiran, Stewart, Collin, Lengyel, Ernst, Pearson, John V., Waddell, Nicola, deFazio, Anna, Grimmond, Sean M. and 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, Cordner, Stephen, O'Brien, Patricia, Leditschke, , Jodie, Young, Greg, Strachan, Kate, Waring, Paul, Azar, Walid, Mitchell, Chris, Traficante, Nadia, Hendley, Joy, Thorne, Heather, Shackleton, Mark, Miller, David K., Arnau, Gisela Mir, Tothill, Richard W., Holloway, Timothy P., Semple, Timothy, Harliwong, Ivon, Nourse, Craig, Nourbakhsh, Ehsan, Manning, Suzanne, Idrisoglu, Senel, Bruxner, Timothy J. C., Christ, Angelika N., Poudel, Barsha, Holmes, Oliver, Anderson, Matthew, Leonard, Conrad, Lonie, Andrew, Hall, Nathan, Wood, Scott, Taylor, Darrin F., Xu, Qinying, Fink, J. Lynn, Waddell, Nick, Drapkin, Ronny, Stronach, Euan, Gabra, Hani, Brown, Robert, Jewell, Andrea, Nagaraj, Shivashankar H., Markham, Emma, Wilson, Peter J., Ellul, Jason, McNally, Orla, Doyle, Maria A., Vedururu, Ravikiran, Stewart, Collin, Lengyel, Ernst, Pearson, John V., Waddell, Nicola, Defazio, Anna, Grimmond, Sean M. and 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, Newell, Felicity, Poudel, Barsha, Song, Sarah, Taylor, Darrin, Waddell, Nick, Wood, Scott, Xu, Qinying, Wu, Jianmin, Pinese, Mark, Cowley, Mark J, Lee, Hong C, Jones, Marc D, Nagrial, Adnan M, Humphris, Jeremy, Chantrill, Lorraine A, Chin, Venessa, Steinmann, Angela M, Mawson, Amanda, Humphrey, Emily S, Colvin, Emily K, Chou, Angela, Scarlett, Christopher J, Pinho, Andreia V, Giry-Laterriere, Marc, Rooman, Ilse, Samra, Jaswinder S, Kench, James G, Pettitt, Jessica A, Merrett, Neil D, Toon, Christopher, Epari, Krishna, Nguyen, Nam Q, Barbour, Andrew, Zeps, Nikolajs, Jamieson, Nigel B, Graham, Janet S, Niclou, Simone P, Bjerkvig, Rolf, Grutzmann, Robert, Aust, Daniela, Hruban, Ralph H, Maitra, Anirban, Iacobuzio-Donahue, Christine A, Wolfgang, Christopher L, Morgan, Richard A, Lawlor, Rita T, Corbo, Vincenzo, Bassi, Claudio, Falconi, Massimo, Zamboni, Giuseppe, Tortora, Giampaolo, Tempero, Margaret A, Gill, Anthony J, Eshleman, James R, Pilarsky, Christian, Scarpa, Aldo, Musgrove, Elizabeth A, Pearson, John V, Biankin, Andrew V and 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., Reid, Lynne E., Krause, Lutz, Hussey, Damian J., Watson, David I., Lord, Reginald V., Nancarrow, Derek, Phillips, Wayne A., Gotely, David, Smithers, B. Mark, Whiteman, David C., Hayward, Nicholas K., Campbell, Peter J., Pearson, John V., Grimmond, Sean M. and Barbour, Andrew P. (2014) Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis. Nature Communications, 5 1: 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, Falconi, Massimo, Zamboni, Guiseppe, Castelli, Paola, APGI, Lawlor, Rita T., Gill, Anthony J., Scarpa, Aldo, Pearson, John V., Biankin, Andrew V. and 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

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., Fink, Lynn, Biankin, Andrew V., Waddell, Nicola, Grimmond, Sean M. and Pearson, John V. (2013) Somatic point mutation calling in low cellularity tumors. PloS One, 8 11: e74380.1-e74380.10. doi:10.1371/journal.pone.0074380

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, Taylor, Darrin, Wood, Scott, Xu, Christina, Nones, Katia, Fink, J. Lynn, Christ, Angelika, Bruxner, Tim, Cloonan, Nicole, Kolle, Gabriel, Newell, Felicity, Pinese, Mark, Mead, R. Scott, Humphris, Jeremy L., Kaplan, Warren, Jones, Marc D., Colvin, Emily K., Nagrial, Adnan M., Humphrey, Emily S., Chou, Angela, Chin, Venessa T., Chantrill, Lorraine A., Mawson, Amanda, Samra, Jaswinder S., Kench, James G., Lovell, Jessica A., Daly, Roger J., Merrett, Neil D., Toon, Christopher, Epari, Krishna, Nguyen, Nam Q., Barbour, Andrew, Zeps, Nikolajs, Australian Pancreatic Cancer Genome Initiative, Pearson, John V. and 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, Gongora, Milena, Anderson, Matthew, Holmes, Oliver, Leonard, Conrad, Taylor, Darrin, Wood, Scott, Xu, Christina, Nones, Katia, Fink, J. Lynn, Christ, Angelika, Bruxner, Tim, Cloonan, Nicole, Newell, Felicity and 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

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

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

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, Patch, Ann-Marie, Fernandez-Rebollo, Eduardo, Raile, Klemens, Morgan, Noel, Harries, Lorna W., Castano, Luis, Ellard, Sian, Ferrer, Jorge, de Nanclares, Guiomar Perez and 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

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

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

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

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

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, Wareham, Nicholas J., Karpe, Fredrik, Owen, Katharine R., Cardon, Lon R., Walker, Mark, Hitman, Graham A., Palmer, Colin N. A., Doney, Alex S. F.Graham A., Morris, Andrew D., Smith, George Davey, Hattersley, Andrew T., McCarthy, Mark I. and 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

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. In: 15th International Biennial Congress of the Metastasis Research Society, Heidelberg, Germany, (236-236). June 28th–July 1st, 2014. 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. In: Journal of Medical Genetics. British Human Genetics Conference, York England, (S90-S90). Aug 31-Sep 02, 2009.

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. In: Journal of Medical Genetics. British Human Genetics Conference, York England, (S24-S24). Sep 15-17, 2008.

Flanagan, Sarah, Edghill, Emma, Patch, Ann-Marie, Minton, Jayne, Ellard, Sian and Hattersley, Andrew (2008). Genetic heterogeneity in permanent neonatal diabetes. In: 47th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Istanbul, Turkey, (38-38). 20-23 September 2008.

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. In: Abstracts of the 44th EASD Annual Meeting of the European Association for the Study of Diabetes. 44th EASD Annual Meeting of the European Association for the Study of Diabetes, Rome, Italy, (S104-S104). 8-11 September 2008. doi:10.1007/s00125-008-1117-6

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?. In: Abstracts of the 44th EASD Annual Meeting of the European Association for the Study of Diabetes. 44th EASD Annual Meeting of the European Association for the Study of Diabetes, Rome, Italy, (S121-S121). 8-11 September 2008. doi:10.1007/s00125-008-1117-6

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. In: Diabetologia. 43rd Annual Meeting of the European-Association-for-the-Study-of-Diabetes, Amsterdam Netherlands, (S124-S124). Sep 18-21, 2007.

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?. In: Diabetologia. 43rd Annual Meeting of the European-Association-for-the-Study-of-Diabetes, Amsterdam Netherlands, (S34-S34). 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. In: Eighth Servier-IGIS Symposium: Animal Models of Islet Dysfunction. 8th Servier-IGIS Symposium: Animal Models of Islet Dysfunction, Saint Jean Cap Ferrat, France, (28-39). 8-11 March 2007. doi:10.1111/j.1463-1326.2007.00772.x

Associate Professor Ann-Marie Patch

Publications

Journal Articles

Conference Papers