A recurrent De Novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations

- Palmer, Elizabeth E., Kumar, Raman, Oufadem, Myriam, Lalani, Seema R., Lewis, Andrea M., Xia, Fan, Tam, Allison, Webster, Richard, Brammah, Susan, Filippini, Francesca, Pollard, John, Spies, Judy, Gordon, Christopher T., Minoche, Andre E., Cowley, Mark J., Risen, Sarah, Powell-Hamilton, Nina N., Tusi, Jessica E., Immken, LaDonna, Nagakura, Honey, Bole-Feysot, Christine, Nitschké, Patrick, Garrigue, Alexandrine, Shaw, Marie, de Saint Basile, Geneviève, Kivuva, Emma, Scott, Richard H., Rendon, Augusto, Munnich, Arnold, Newman, William, Kerr, Bronwyn, Besmond, Claude, Rosenfeld, Jill A., Amiel, Jeanne, Hubert, Laurence, Field, Michael, Gecz, Jozef, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy

Clinical and pathologic features of familial pancreatic cancer

- Humphris, Jeremy L., Johns, Amber L., Mead, R. Scott, Gill, Anthony J., Samra, Jaswinder S., Kench, James G., Musgrove, Elizabeth A., Tucker, Katherine M., Spigelman, Allan D., Waddell, Nic, Grimmond, Sean M., Biankin, Andrew V. Biankin, Simpson, Skye H., Australian Pancreatic Cancer Genome Initiative,, Cowley, Mark J., Pajic, Marina, Chang, David K., Nagrial, Adnan M., Chin, Venessa T., Chantrill, Lorraine A., Pinese, Mark

Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability

- Field, Michael J., Kumar, Raman, Gardner, Alison E., Sullivan, Patricia, Ha, Thuong T., Schwartz, Charles E., Cowley, Mark J., Dinger, Marcel E., Palmer, Elizabeth E., Christie, Louise, Shaw, Marie, Roscioli, Tony, Hackett, Anna, Gecz, Jozef, Corbett, MA, Kayumi, Sayaka, Shoubridge, Cheryl A., Ewans, Lisa J., Ivancevic, Atma M., Dudding-Byth, Tracy, Carroll, Renée, Kroes, Thessa

Histomolecular phenotypes and outcome in adenocarcinoma of the ampulla of Vater

- Chang, David K., Jamieson, Nigel B., Nagrial, Adnan M., Chantrill, Lorraine A., Chin, Venessa T., Pinho, Andreia V., Rooman, Ilse, Cowley, Mark J., Wu, Jianmin, Mead, R. Scott, Colvin, Emily K., Samra, Jaswinder S., Johns, Amber L., Corbo, Vincenzo, Bassi, Claudio, Falconi, Massimo, Lawlor, Rita T., Crippa, Stefano, Sperandio, Nicola, Bersani, Samantha, Dickson, Euan J., Mohamed, Mohamed A. A., Oien, Karin A., Scarlett, Christopher J., Foulis, Alan K., Musgrove, Elizabeth A., Sutherland, Robert L., Kench, James G., Carter, C. Ross, Gill, Anthony J., Scarpa, Aldo, McKay, Colin J., Biankin, Andrew V., Pajic, Marina, Chou, Angela, Pinese, Mark, Humphris, Jeremy L., Jones, Marc D., Toon, Christopher

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

- 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, Scarlett, Christopher J.

Precision oncology in surgery: patient selection for operable pancreatic cancer

- Dreyer, Stephan B., Pinese, Mark, Jamieson, Nigel B., Scarlett, Christopher J., Colvin, Emily K., Pajic, Marina, Johns, Amber L., Humphris, Jeremy L., Wu, Jianmin, Cowley, Mark J., Chou, Angela, Nagrial, Adnan M., Chantrill, Lorraine, Chin, Venessa T., Jones, Marc D., Moran-Jones, Kim, Carter, Christopher Ross, Dickson, Euan J., Samra, Jaswinder S., Merrett, Neil D., Gill, Anthony J., Kench, JG, Duthie, F, Miller, DK, Cooke, S, Aust, D, Knösel, T, Rümmele, P, Grützmann, R, Pilarsky, C, Nguyen, NQ, Musgrove, EA, Bailey, PJ, McKay, CJ, Biankin, AV, Chang, DK, Australian Pancreatic Cancer Genome Initiative, Glasgow Precision Oncology Laboratory

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy

- Bagnall, Richard D., Ingles, Jodie, Berman, Yemima, Ronan, Anne, Fatkin, Diane, Semsarian, Christopher, Dinger, Marcel E., Cowley, Mark J., Ross, Samantha Barratt, Minoche, André E., Lal, Sean, Turner, Christian, Colley, Alison, Rajagopalan, Sulekha