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PreviewIssue DateTitleAuthor(s)
2014Inactivating mutations in NPC1L1 and protection from coronary heart diseaseStitziel, N.O.; Won, H.H.; Morrison, A.C.; Peloso, G.M.; Do, R.; Lange, L.A.; Fontanillas, P.; Gupta, N.; Duga, S.; Goel, A.; Farrall, M.; Saleheen, D.; Ferrario, P.; König, I.; Asselta, R.; Merlini, P.A.; Marziliano, N.; Notarangelo, M.F.; Schick, U.; Auer, P.; et al.
2013PIK3CA and PTEN gene and exon mutation-specific clinicopathologic and molecular associations in colorectal cancerDay, F.; Jorissen, R.; Lipton, L.; Mouradov, D.; Sakthianandeswaren, A.; Christie, M.; Li, S.; Tsui, C.; Tie, J.; Desai, J.; Xu, Z.; Molloy, P.; Whitehall, V.; Leggett, B.; Jones, I.; McLaughlin, S.; Ward, R.; Hawkins, N.; Ruszkiewicz, A.; Moore, J.; et al.
2016Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDvan Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
2011A novel recurrent mutation in MITF predisposes to familial and sporadic melanomaYokoyama, S.; Woods, S.; Boyle, G.; Aoude, L.; MacGregor, S.; Zismann, V.; Gartside, M.; Cust, A.; Haq, R.; Harland, M.; Taylor, J.; Duffy, D.; Holohan, K.; Dutton-Regester, K.; Palmer, J.; Bonazzi, V.; Stark, M.; Symmons, J.; Law, M.; Schmidt, C.; et al.
2013Mutations in DEPDC5 cause familial focal epilepsy with variable fociDibbens, L.; de Vries, B.; Donatello, S.; Heron, S.; Hodgson, B.; Chintawar, S.; Crompton, D.; Hughes, J.; Bellows, S.; Klein, K.; Callenbach, P.; Corbett, M.; Gardner, A.; Kivity, S.; Iona, X.; Regan, B.; Weller, C.; Crimmins, D.; O'Brien, T.; Guerrero-Lopez, R.; et al.
2010Lynch syndrome-associated breast cancers: Clinicopathologic characteristics of a case series from the colon cancer family registryWalsh, M.; Buchanan, D.; Cummings, M.; Pearson, S.; Arnold, S.; Clendenning, M.; Walters, R.; McKeone, D.; Spurdle, A.; Hopper, J.; Jenkins, M.; Phillips, K.; Suthers, G.; George, J.; Goldblatt, J.; Muir, A.; Tucker, K.; Pelzer, E.; Gattas, M.; Woodall, S.; et al.
2016Antiretroviral resistance at virological failure in the NEAT 001/ANRS 143 trial: raltegravir plus darunavir/ritonavir or tenofovir/emtricitabine plus darunavir/ritonavir as first-line ARTLambert-Niclot, S.; George, E.; Pozniak, A.; White, E.; Schwimmer, C.; Jessen, H.; Johnson, M.; Dunn, D.; Perno, C.; Clotet, B.; Plettenberg, A.; Blaxhult, A.; Palmisano, L.; Wittkop, L.; Calvez, V.; Marcelin, A.; Raffi, F.; Dedes, N.; Chěne, G.; Allavena, C.; et al.
2015Analysis of KRAS/NRAS mutations in a phase III study of panitumumab with FOLFIRI compared with FOLFIRI zlone as second-line treatment for metastatic colorectal cancerPeeters, M.; Oliner, K.; Price, T.; Cervantes, A.; Sobrero, A.; Ducreux, M.; Hotko, Y.; André, T.; Chan, E.; Lordick, F.; Punt, C.; Strickland, A.; Wilson, G.; Ciuleanu, T.; Roman, L.; Van Cutsem, E.; He, P.; Yu, H.; Koukakis, R.; Terwey, J.; et al.
2017Adults with Philadelphia chromosome-like acute lymphoblastic leukemia frequently have IGH-CRLF2 and JAK2 mutations, persistence of minimal residual disease and poor prognosisHerold, T.; Schneider, S.; Metzeler, K.; Neumann, M.; Hartmann, L.; Roberts, K.; Konstandin, N.; Greif, P.; Braeundl, K.; Ksienzyk, B.; Huk, N.; Schneider, I.; Zellmeier, E.; Jurinovic, V.; Mansmann, U.; Hiddemann, W.; Mullighan, C.; Bohlander, S.; Spiekermann, K.; Hoelzer, D.; et al.
2013SMAD2, SMAD3 and SMAD4 mutations in colorectal cancerFleming, N.; Jorissen, R.; Mouradov, D.; Christie, M.; Sakthianandeswaren, A.; Palmieri, M.; Day, F.; Li, S.; Tsui, C.; Lipton, L.; Desai, J.; Jones, I.; McLaughlin, S.; Ward, R.; Hawkins, N.; Ruszkiewicz, A.; Moore, J.; Zhu, H.; Mariadason, J.; Burgess, A.; et al.

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