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Gagliano, Teresa, Shah, Kalpit, Gargani, Sofia, Lao, Liyan, Alsaleem, Mansour, Chen, Jianing, Ntafis, Vasileios, Huang, Penghan, Ditsiou, Angeliki, Vella, Viviana, Yadav, Kritika, Bienkowska, Kamila, Benstead-Hum, Graeme, Pearl, Frances M G, Giamas, Georgios and others, (2020) PIK3Cδ expression by fibroblasts promotes triple-negative breast cancer progression. Journal of Clinical Investigation, 130 (6). pp. 3188-3204. ISSN 0021-9738
van der Crabben, Saskia N, Hennus, Marije P, McGregor, Grant, Ritter, Deborah I, Nagamani, Sandesh C S, Wells, Owen S, Harakalova, Magdalena, Chinn, Ivan K, Alt, Aaron, Vondrova, Lucie, Hochstenbach, Ron, van Montfrans, Joris M, Terheggen-Lagro, Suzanne W, van Lieshout, Stef, van Roosmalen, Markus J, Renkens, Ivo, Duran, Karen, Nijman, Isaac J, Kloosterman, Wigard P, Hennekam, Eric, Orange, Jordan S, van Hasselt, Peter M, Wheeler, David A, Palecek, Jan J, Lehmann, Alan R, Oliver, Antony W, Pearl, Laurence H, Plon, Sharon E, Murray, Johanne M and van Haaften, Gijs (2016) Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. Journal of Clinical Investigation, 126 (8). pp. 2881-2892. ISSN 0021-9738
Baple, Emma L, Chambers, Helen, Cross, Harold E, Fawcett, Heather, Nakazawa, Yuka, Chioza, Barry A, Harlalka, Gaurav V, Mansour, Sahar, Sreekantan-Nair, Ajith, Patton, Michael A, Muggenthaler, Martina, Rich, Phillip, Wagner, Karin, Coblentz, Roselyn, Stein, Constance K, Last, James I, Taylor, A Malcolm R, Jackson, Andrew P, Ogi, Tomoo, Lehmann, Alan R, Green, Catherine M and Crosby, Andrew H (2014) Hypomorphic PCNA mutation underlies a novel human DNA repair disorder. Journal of Clinical Investigation, 124 (7). pp. 3137-3146. ISSN 0021-9738
Woodbine, Lisa, Neal, Jessica A, Sasi, Nanda-Kumar, Shimada, Mayuko, Deem, Karen, Coleman, Helen, Dobyns, William B, Ogi, Tomoo, Meek, Katheryn, Davies, E Graham and Jeggo, Penny A (2013) PRKDC mutations in a SCID patient with profound neurological abnormalities. Journal of Clinical Investigation, 123 (7). pp. 2969-2980. ISSN 0021-9738
Nijnik, Anastasia, Dawson, Sara, Woodbine, Lisa, Visetnoi, Supawan, Bennett, Sophia, Jones, Margaret, Turner, Gareth D, Jeggo, Penelope A, Goodnow, Christopher C and Cornall, Richard J (2009) Impaired lymphocyte development and antibody class switching and increased malignancy in a murine model of DNA ligase IV syndrome. Journal of Clinical Investigation, 119 (6). pp. 1696-1705. ISSN 00219738
Kampmann, Beate, Hemingway, Cheryl, Stephens, Alick, Davidson, Robert, Goodsall, Anna, Anderson, Suzanne, Nicol, Mark, Schölvinck, Elisabeth, Relman, David, Waddell, Simon J, Langford, Paul, Sheehan, Brian, Semple, Lynn, Wilkinson, Katalin A, Wilkinson, Robert J, Ress, Stanley, Hibberd, Martin and Levin, Michael (2005) Acquired predisposition to mycobacterial disease due to autoantibodies to IFN-γ. Journal of Clinical Investigation, 115 (9). pp. 2480-2488. ISSN 0021-9738