Phenotype-genotype correlations in a series of Wolfram syndrome families

- Smith, Casey J. A., Crock, Patricia A., King, Bruce R., Meldrum, Cliff J., Scott, Rodney J.

Hereditary haemochromatosis: to screen or not to screen? (editorial)

- Olynyk, J. K., Trinder, D., Milward, Adrienne Elizabeth

Directional sensing of a phorbol ester gradient requires CD44 and is regulated by CD44 phosphorylation

- Tzircotis, G., Thorne, R. F., Isacke, C. M.

A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease

- Hooper, Amanda J., Tran, Huy A., Formby, Mark R., Burnett, John R.

Small molecular weight variants of p53 are expressed in human melanoma cells and are induced by the DNA-damaging agent cisplatin

- Avery-Kiejda, Kelly A., Zhang, Xu Dong, Adams, Luke J., Scott, Rodney J., Vojtesek, Borivoj, Lane, David P., Hersey, Peter

Variable phenotypic expression in HNPCC and the search for modifier genes

- Scott, Rodney J.

Planning the Human Variome Project: the Spain report

- Kaput, Jim, Cotton, Richard G. H., Bapat, Bharati, Bernstein, Inge T., Bhak, Jong, Bleoo, Stacey L., Blöcker, Helmut, Brenner, Steven E., Burn, John, Bustamante, Mariona, Calzone, Rita, Scott, Rodney J., Hardman, Lauren, Watson, Michael, Aqeel, Aida I. Al, Al-Aama, Jumana Y., Al-Mulla, Fahd, Alonso, Santos, Aretz, Stefan, Auerbach, Arleen D.

Probing glycine receptor stoichiometry in superficial dorsal horn neurones using the spasmodic mouse

- Graham, B. A., Tadros, M. A., Schofield, P. R., Callister, R. J.

Characteristics of a widespread community cluster of H275Y Oseltamivir-Resistant A (H1N1)pdm09 influenza in Australia

- Hurt, A. C., Hardie, K., Wark, P., Caldwell, N., Givney, R. C., Xue, L., Maurer-Stroh, S., Dwyer, D. E., Wang, B., Smith, D. W., Levy, A., Booy, R., Wilson, N. J., Dixit, R., Merritt, T., Kelso, A., Dalton, C. B., Durrheim, D. N., Barr, I. G., Deng, Y. M., Osbourn, M., Leang, S. K., Lee, R. T. C., Iannello, P., Gehrig, N., Shaw, R.

AEBP1 upregulation confers acquired resistance to BRAF (V600E) inhibition in melanoma

- Hu, W., Jin, L., Jiang, C. C., Long, G. V., Scolyer, R. A., Wu, Q., Zhang, X. D., Mei, Y., Wu, M.

Paternal obesity, interventions, and mechanistic pathways to impaired health in offspring

- McPherson, Nicole O., Fullston, Tod, Aitken, R. John, Lane, Michelle

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

- Spurdle, Amanda B., Couch, Fergus J., Rhiem, Kerstin, Lissowska, Jolanta, Olson, Janet E., Pankratz, Vernon S., John, Esther M., Whittemore, Alice S., West, Dee W., Hamann, Ute, Torres, Diana, Ulmer, Hans Ulrich, Rüdiger, Thomas, Hahnen, Eric, Devilee, Peter, Tollenaar, Robert AEM, Seynaeve, Caroline, Van Asperen, Christi J, Eccles, Diana M, Tapper, William J, Durcan, Lorraine, Jones, Louise, Peto, Julian, dos-Santos-Silva, Isabel, Engel, Christoph, Fletcher, Olivia, Johnson, Nichola, Dwek, Miriam, Swann, Ruth, Bane, Anita L., Glendon, Gord, Mulligan, Anna M., Giles, Graham G., Milne, Roger L, Baglietto, Laura, Meindl, Alfons, McLean, Catriona, Carpenter, Jane, Clarke, Christine, Scott, Rodney, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Ditsch, Nina, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Gronwald, Jacek, Dörk, Thilo, Bogdanova, Natalia, Park-Simon, Tjoung-Won, Hillemanns, Peter, Haiman, Christopher A., Henderson, Brian E., Arnold, Norbert, Schumacher, Fredrick, Le Marchand, Loic, Burwinkel, Barbara, Marme, Frederik, Surovy, Harald, Yang, Rongxi, Anton-Culver, Hoda, Ziogas, Argyrios, Hooning, Maartje J., Collée, J. Margriet, Plendl, Hansjoerg, Martens, John W. M., Tilanus-Linthorst, Madeleine M. A., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volke, Stegmaier, Christa, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Niederacher, Dieter, Lindblom, Annika, Margolin, Sara, Joseph, Vijai, Robson, Mark, Rau-Murthy, Rohini, González-Neira, Anna, Arias, José Ignacio, Zamora, Pilar, Benítez, Javier, Mannermaa, Arto, Sutter, Christian, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Peterlongo, Paolo, Zaffaroni, Daniela, Barile, Monica, Capra, Fabio, Radice, Paolo, Teo, Soo H., Easton, Douglas F., Wang-Gohrke, Shan, Antoniou, Antonis C., Chenevix-Trench, Georgia, Goldgar, David E., Parsons, Michael T., Steinemann, Doris, Preisler-Adams, Sabine, Kast, Karin, Varon-Mateeva, Raymonda, Ellis, Steve, Frost, Debra, Platte, Radka, Perkins, Jo, Evans, D. Gareth, Izatt, Louise, McGuffog, Lesley, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Scuvera, Giulietta, Manoukian, Siranoush, Bonanni, Bernardo, Mariette, Frederique, Fortuzzi, Stefano, Viel, Alessandra, Barrowdale, Daniel, Pasini, Barbara, Papi, Laura, Varesco, Liliana, Balleine, Rosemary, Nathanson, Katherine L., Domchek, Susan M., Offitt, Kenneth, Jakubowska, Anna, Lindor, Noralane, Thomassen, Mads, Bolla, Manjeet K., Jensen, Uffe Birk, Rantala, Johanna, Borg, Åke, Andrulis, Irene L., Miron, Alexander, Hansen, Thomas V. O., Caldes, Trinidad, Neuhausen, Susan L., Toland, Amanda E., Nevanlinna, Heli, Wang, Qin, Montagna, Marco, Garber, Judy, Godwin, Andrew K., Osorio, Ana, Factor, Rachel E., Terry, Mary B., Rebbeck, Timothy R., Karlan, Beth Y., Southey, Melissa, Rashid, Muhammad Usman, Healey, Sue, Tung, Nadine, Pharoah, Paul D. P., Blows, Fiona M., Dunning, Alison M., Provenzano, Elena, Hall, Per, Czene, Kamila, Schmidt, Marjanka K., Broeks, Annegien, Cornelissen, Sten, Schmutzler, Rita Katharina, Verhoef, Senno, Fasching, Peter A., Beckmann, Matthias W., Ekici, Arif B., Slamon, Dennis J., Bojesen, Stig E., Nordestgaard, Børg G., Nielsen, Sune F., Flyger, Henrik, Chang-Claude, Jenny, Wappenschmidt, Barbara, Flesch-Janys, Dieter, Rudolph, Anja, Seibold, Petra, Aittomäki, Kristiina, Muranen, Taru A., Heikkilä, Päivi, Blomqvist, Carl, Figueroa, Jonine, Chanock, Stephen J., Brinton, Louise

Switching strategies to mitigate HIV mutation

- Hernandez-Vargas, Esteban Abelardo, Colaneri, Patrizio, Middleton, Richard H.

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

- Corbett, Mark A., Dudding-Byth, Tracy, Friend, Kathryn L., Crawford, Jo, Jackson, Graeme, Vandeleur, Lucianne, Hackett, Anna, Tarpey, Patrick, Stratton, Michael R., Turner, Gillian, Gécz, Jozef, Field, Michael, Crock, Patricia A., Botta, Elena, Christie, Louise M., Nardo, Tiziana, Caligiuri, Giuseppina, Hobson, Lynne, Boyle, Jackie, Mansour, Albert

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

- Eggers, Stefanie, Sadedin, Simon, Cameron, Fergus, Werther, George, Hutson, John, O'Connell, Michele, Grover, Sonia R., Heloury, Yves, Zacharin, Margaret, Bergman, Philip, Kimber, Chris, Brown, Justin, van den Bergen, Jocelyn A., Webb, Nathalie, Hunter, Matthew F., Srinivasan, Shubha, Titmuss, Angela, Verge, Charles F., Mowat, David, Smith, Grahame, Smith, Janine, Ewans, Lisa, Shalhoub, Carolyn, Robevska, Gorjana, Crock, Patricia, Cowell, Chris, Leong, Gary M., Ono, Makato, Lafferty, Antony R., Huynh, Tony, Visser, Uma, Choong, Catherine S., McKenzie, Fiona, Pachter, Nicholas, Ohnesorg, Thomas, Thompson, Elizabeth M., Couper, Jennifer, Baxendale, Anne, Gecz, Jozef, Wheeler, Benjamin J., Jefferies, Craig, MacKenzie, Karen, Hofman, Paul, Carter, Philippa, King, Richard I., Hewitt, Jacqueline, Krausz, Csilla, van Ravenswaaij-Arts, Conny M. A., Looijenga, Leendert, Drop, Sten, Riedl, Stefan, Cools, Martine, Dawson, Angelika, Juniarto, Achmad Zulfa, Khadilkar, Vaman, Khadilkar, Anuradha, Lambeth, Luke, Bhatia, Vijayalakshmi, Dũng, Vũ Chí, Atta, Irum, Raza, Jamal, thi Diem Chi, Nguyen, Hao, Tran Kiem, Harley, Vincent, Koopman, Peter, Warne, Garry, Faradz, Sultana, Bouty, Aurore, Oshlack, Alicia, Ayers, Katie L., Sinclair, Andrew H., Knarston, Ingred M., Tan, Tiong Yang

Oestrogen fuels the growth of endometrial hyperplastic lesions initiated by overactive Wnt/β-catenin signalling

- Goad, Jyoti, Ko, Yi-An, Kumar, Manish, Jamaluddin, M. Fairuz B., Tanwar, Pradeep S.

Proteomic characterization of the extracellular matrix of human uterine fibroids

- Jamaluddin, M. Fairuz B., Nahar, Pravin, Tanwar, Pradeep S.

RIP1 protects melanoma cells from apoptosis induced by BRAF/MEK inhibitors

- Lei, Fu Xi, Jin, Lei, Liu, Xiao Ying, Lai, Fritz, Yan, Xu Guang, Farrelly, Margaret, Guo, Su Tang, Zhao, Xin Han, Zhang, Xu Dong

A missense variant in PTPN22 is a risk factor for drug-induced liver injury

- Cirulli, Elizabeth T., Nicoletti, Paola, Abramson, Karen, Andrade, Raul J., Bjornsson, Einar S., Chalasani, Naga, Fontana, Robert J., Hallberg, Par, Li, Yi Ju, Lucena, M. Isabel, Long, Nanye, Molokhia, Mariam, Nelson, Matthew R., Odin, Joseph A., Pirmohamed, Munir, Rafnar, Thorunn, Serrano, Jose, Stefánsson, Kari, Stolz, Andrew, Martin, Jennifer H.

A subsidiary cell-localized glucose transporter promotes stomatal conductance and photosynthesis

- Wang, Hai, Yan, Shijuan, Li, Shengyan, Zhang, Chunyi, Ruan, Yong-Ling, Chen, Li-Qing, Lang, Zhihong, Xin, Hongjia, Huang, Wenjie, Zhang, Hao, Teng, Shouzhen, Yu, Ya-Chi, Fernie, Alisdair R., Lu, Xiaoduo, Li, Pengcheng