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1 |
Material Type: Artigo
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Mutational landscape and significance across 12 major cancer typesKandoth, Cyriac ; McLellan, Michael D ; Vandin, Fabio ; Ye, Kai ; Niu, Beifang ; Lu, Charles ; Xie, Mingchao ; Zhang, Qunyuan ; McMichael, Joshua F ; Wyczalkowski, Matthew A ; Leiserson, Mark D M ; Miller, Christopher A ; Welch, John S ; Walter, Matthew J ; Wendl, Michael C ; Ley, Timothy J ; Wilson, Richard K ; Raphael, Benjamin J ; Ding, LiNature (London), 2013-10, Vol.502 (7471), p.333-339 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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The landscape of genomic alterations across childhood cancersGröbner, Susanne N ; Worst, Barbara C ; Weischenfeldt, Joachim ; Buchhalter, Ivo ; Kleinheinz, Kortine ; Rudneva, Vasilisa A ; Johann, Pascal D ; Balasubramanian, Gnana Prakash ; Segura-Wang, Maia ; Brabetz, Sebastian ; Bender, Sebastian ; Hutter, Barbara ; Sturm, Dominik ; Pfaff, Elke ; Hübschmann, Daniel ; Zipprich, Gideon ; Heinold, Michael ; Eils, Jürgen ; Lawerenz, Christian ; Erkek, Serap ; Lambo, Sander ; Waszak, Sebastian ; Blattmann, Claudia ; Borkhardt, Arndt ; Kuhlen, Michaela ; Eggert, Angelika ; Fulda, Simone ; Gessler, Manfred ; Wegert, Jenny ; Kappler, Roland ; Baumhoer, Daniel ; Burdach, Stefan ; Kirschner-Schwabe, Renate ; Kontny, Udo ; Kulozik, Andreas E ; Lohmann, Dietmar ; Hettmer, Simone ; Eckert, Cornelia ; Bielack, Stefan ; Nathrath, Michaela ; Niemeyer, Charlotte ; Richter, Günther H ; Schulte, Johannes ; Siebert, Reiner ; Westermann, Frank ; Molenaar, Jan J ; Vassal, Gilles ; Witt, Hendrik ; Burkhardt, Birgit ; Kratz, Christian P ; Witt, Olaf ; van Tilburg, Cornelis M ; Kramm, Christof M ; Fleischhack, Gudrun ; Dirksen, Uta ; Rutkowski, Stefan ; Frühwald, Michael ; von Hoff, Katja ; Wolf, Stephan ; Klingebiel, Thomas ; Koscielniak, Ewa ; Landgraf, Pablo ; Koster, Jan ; Resnick, Adam C ; Zhang, Jinghui ; Liu, Yanling ; Zhou, Xin ; Waanders, Angela J ; Zwijnenburg, Danny A ; Raman, Pichai ; Brors, Benedikt ; Weber, Ursula D ; Northcott, Paul A ; Pajtler, Kristian W ; Kool, Marcel ; Piro, Rosario M ; Korbel, Jan O ; Schlesner, Matthias ; Eils, Roland ; Jones, David T W ; Lichter, Peter ; Chavez, Lukas ; Zapatka, Marc ; Pfister, Stefan MNature (London), 2018-03, Vol.555 (7696), p.321-327 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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The repertoire of mutational signatures in human cancerAlexandrov, Ludmil B ; Kim, Jaegil ; Haradhvala, Nicholas J ; Huang, Mi Ni ; Tian Ng, Alvin Wei ; Wu, Yang ; Boot, Arnoud ; Covington, Kyle R ; Gordenin, Dmitry A ; Bergstrom, Erik N ; Islam, S M Ashiqul ; Lopez-Bigas, Nuria ; Klimczak, Leszek J ; McPherson, John R ; Morganella, Sandro ; Sabarinathan, Radhakrishnan ; Wheeler, David A ; Mustonen, Ville ; Getz, Gad ; Rozen, Steven G ; Stratton, Michael RNature (London), 2020-02, Vol.578 (7793), p.94-101 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Analyses of non-coding somatic drivers in 2,658 cancer whole genomesRheinbay, Esther ; Nielsen, Morten Muhlig ; Abascal, Federico ; Wala, Jeremiah A ; Shapira, Ofer ; Tiao, Grace ; Hornshøj, Henrik ; Hess, Julian M ; Juul, Randi Istrup ; Lin, Ziao ; Feuerbach, Lars ; Sabarinathan, Radhakrishnan ; Madsen, Tobias ; Kim, Jaegil ; Mularoni, Loris ; Shuai, Shimin ; Lanzós, Andrés ; Herrmann, Carl ; Maruvka, Yosef E ; Shen, Ciyue ; Amin, Samirkumar B ; Bandopadhayay, Pratiti ; Bertl, Johanna ; Boroevich, Keith A ; Busanovich, John ; Carlevaro-Fita, Joana ; Chakravarty, Dimple ; Chan, Calvin Wing Yiu ; Craft, David ; Dhingra, Priyanka ; Diamanti, Klev ; Fonseca, Nuno A ; Gonzalez-Perez, Abel ; Guo, Qianyun ; Hamilton, Mark P ; Haradhvala, Nicholas J ; Hong, Chen ; Isaev, Keren ; Johnson, Todd A ; Juul, Malene ; Kahles, Andre ; Kahraman, Abdullah ; Kim, Youngwook ; Komorowski, Jan ; Kumar, Kiran ; Kumar, Sushant ; Lee, Donghoon ; Lehmann, Kjong-Van ; Li, Yilong ; Liu, Eric Minwei ; Lochovsky, Lucas ; Park, Keunchil ; Pich, Oriol ; Roberts, Nicola D ; Saksena, Gordon ; Schumacher, Steven E ; Sidiropoulos, Nikos ; Sieverling, Lina ; Sinnott-Armstrong, Nasa ; Stewart, Chip ; Tamborero, David ; Tubio, Jose M C ; Umer, Husen M ; Uusküla-Reimand, Liis ; Wadelius, Claes ; Wadi, Lina ; Yao, Xiaotong ; Zhang, Cheng-Zhong ; Zhang, Jing ; Haber, James E ; Hobolth, Asger ; Imielinski, Marcin ; Kellis, Manolis ; Lawrence, Michael S ; von Mering, Christian ; Nakagawa, Hidewaki ; Raphael, Benjamin J ; Rubin, Mark A ; Sander, Chris ; Stein, Lincoln D ; Stuart, Joshua M ; Tsunoda, Tatsuhiko ; Wheeler, David A ; Johnson, Rory ; Reimand, Jüri ; Gerstein, Mark ; Khurana, Ekta ; Campbell, Peter J ; López-Bigas, Núria ; Weischenfeldt, Joachim ; Beroukhim, Rameen ; Martincorena, Iñigo ; Pedersen, Jakob Skou ; Getz, GadNature (London), 2020-02, Vol.578 (7793), p.102-111 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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The mutational landscapes of genetic and chemical models of Kras-driven lung cancerWestcott, Peter M K ; Halliwill, Kyle D ; To, Minh D ; Rashid, Mamunur ; Rust, Alistair G ; Keane, Thomas M ; Delrosario, Reyno ; Jen, Kuang-Yu ; Gurley, Kay E ; Kemp, Christopher J ; Fredlund, Erik ; Quigley, David A ; Adams, David J ; Balmain, AllanNature (London), 2015-01, Vol.517 (7535), p.489-492 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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The clonal and mutational evolution spectrum of primary triple―negative breast cancersSHAH, Sohrab P ; ROTH, Andrew ; BASHASHATI, Ali ; PRENTICE, Leah M ; KHATTRA, Jaswinder ; BURLEIGH, Angela ; YAP, Damian ; BERNARD, Virginie ; MCPHERSON, Andrew ; SHUMANSKY, Karey ; CRISAN, Anamaria ; GIULIANY, Ryan ; GOYA, Rodrigo ; HERAVI-MOUSSAVI, Alireza ; ROSNER, Jamie ; LAI, Daniel ; BIROL, Inane ; VARHOL, Richard ; TAM, Angela ; DHALLA, Noreen ; ZENG, Thomas ; MA, Kevin ; CHAN, Simon K ; OLOUMI, Arusha ; GRIFFITH, Malachi ; MORADIAN, Annie ; GRACE CHENG, S.-W ; MORIN, Gregg B ; WATSON, Peter ; GELMON, Karen ; CHIA, Stephen ; CHIN, Suet-Feung ; CURTIS, Christina ; RUEDA, Oscar M ; HA, Gavin ; PHAROAH, Paul D ; DAMARAJU, Sambasivarao ; MACKEY, John ; HOON, Kelly ; HARKINS, Timothy ; TADIGOTLA, Vasisht ; SIGAROUDINIA, Mahvash ; GASCARD, Philippe ; TLSTY, Thea ; COSTELLO, Joseph F ; YONGJUN ZHAO ; MEYER, Irmtraud M ; EAVES, Connie J ; WASSERMAN, Wyeth W ; JONES, Steven ; HUNTSMAN, David ; HIRST, Martin ; CALDAS, Carlos ; MARRA, Marco A ; APARICIO, Samuel ; TURASHVILI, Gulisa ; JIARUI DING ; TSE, Kane ; HAFFARI, GholamrezaNature (London), 2012-06, Vol.486 (7403), p.395-399 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Whole genomes redefine the mutational landscape of pancreatic cancerWaddell, Nicola ; Pajic, Marina ; Patch, Ann-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 ; Grützmann, 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 ; Grimmond, Sean MNature (London), 2015-02, Vol.518 (7540), p.495-501 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individualsSurendran, Praveen ; Feofanova, Elena V ; Lahrouchi, Najim ; Mifsud, Borbala ; Kraja, Aldi T ; Hellwege, Jacklyn N ; Thorleifsson, Gudmar ; Liu, Dajiang J ; Cabrera, Claudia P ; Bielak, Lawrence F ; Bis, Joshua C ; Nielsen, Sune Fallgaard ; Fauman, Eric B ; Fava, Cristiano ; Ferreira, Teresa ; Foley, Christopher N ; Franceschini, Nora ; Giannakopoulou, Olga ; Gudbjartsson, Daniel F ; Guo, Xiuqing ; Harris, Sarah E ; Kontto, Jukka ; Larson, Martin G ; Li-Gao, Ruifang ; Malerba, Giovanni ; Mei, Hao ; Mook-Kanamori, Dennis O ; Müller-Nurasyid, Martina ; Rauramaa, Rainer ; Smith, Albert V ; Thériault, Sébastien ; Trompet, Stella ; Veronesi, Giovanni ; Weiss, Stefan ; Willems, Sara M ; Zhang, Weihua ; Zhao, Wei ; Zhao, Wei ; Evangelou, Evangelos ; Bonnycastle, Lori L ; Burgess, Stephen ; Connell, John ; Farmaki, Aliki-Eleni ; Grarup, Niels ; Hallmans, Göran ; Have, Christian T ; Karpe, Fredrik ; Koistinen, Heikki A ; Lee, I-Te ; Lee, Wen-Jane ; Linneberg, Allan ; Rasheed, Asif ; Rasmussen, Katrine L ; Renström, Frida ; Rettig, Rainer ; Rossouw, Jacques ; Schreiner, Pamela J ; Sever, Peter S ; Sun, Yan V ; Esko, Tõnu ; Vergnaud, Anne-Claire ; Wilson, Peter W F ; Witte, Daniel R ; Almgren, Peter ; Barnes, Michael R ; Bottinger, Erwin P ; Chowdhury, Rajiv ; Correa, Adolfo ; Dedoussis, George ; Di Angelantonio, Emanuele ; Ferrières, Jean ; Fornage, Myriam ; Franks, Stephen ; Frossard, Philippe ; Gaunt, Tom R ; Ingelsson, Erik ; Lind, Lars ; Loos, Ruth J F ; Majumder, Abdulla Al Shafi ; Packard, Chris J ; Palmas, Walter ; Prentice, Andrew M ; Relton, Caroline L ; Rolandsson, Olov ; Smith, Blair H ; Soranzo, Nicole ; Spector, Timothy D ; Taylor, Kent D ; Timpson, Nicholas J ; Völker, Uwe ; Wareham, Nicholas J ; Langenberg, Claudia ; Tomaszewski, Maciej ; Caulfield, Mark J ; Hung, Adriana M ; Morris, Andrew P ; Morrison, Alanna C ; Psaty, Bruce M ; Levy, Daniel ; Munroe, Patricia BNature genetics, 2020-12, Vol.52 (12), p.1314-1332 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Evaluating drug targets through human loss-of-function genetic variationMinikel, Eric Vallabh ; Karczewski, Konrad J ; Martin, Hilary C ; Cummings, Beryl B ; Whiffin, Nicola ; Rhodes, Daniel ; Alföldi, Jessica ; Trembath, Richard C ; van Heel, David A ; Daly, Mark J ; Schreiber, Stuart L ; MacArthur, Daniel GNature (London), 2020-05, Vol.581 (7809), p.459-464 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Mutations of optineurin in amyotrophic lateral sclerosisKawakami, Hideshi ; Kawata, Akihiro ; Maruyama, Hirofumi ; Nodera, Hiroyuki ; Komure, Osamu ; Abe, Koji ; Ito, Hidefumi ; Hirano, Asao ; Kinoshita, Yoshimi ; Kato, Hidemasa ; Hagiwara, Koichi ; Watanabe, Yasuhito ; Ogasawara, Kazumasa ; Hirai, Takeshi ; Takumi, Toru ; Kato, Takeo ; Morimoto, Nobutoshi ; Morino, Hiroyuki ; Kamada, Masaki ; Kobatake, Keitaro ; Suzuki, Naoki ; Aoki, Masashi ; Izumi, Yuishin ; Matsuura, Shinya ; Kaji, Ryuji ; Suzuki, Hidenori ; Kusaka, HirofumiNature (London), 2010-05, Vol.465 (7295), p.223-226 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |