Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
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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2 |
Material Type: Artigo
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Hereditary angioedema with a mutation in the plasminogen geneBork, K. ; Wulff, K. ; Steinmüller‐Magin, L. ; Brænne, I. ; Staubach‐Renz, P. ; Witzke, G. ; Hardt, J.Allergy (Copenhagen), 2018-02, Vol.73 (2), p.442-450 [Periódico revisado por pares]Denmark: Blackwell Publishing LtdTexto completo disponível |
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3 |
Material Type: Artigo
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Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumoursMa, Xiaotu ; Liu, Yu ; Liu, Yanling ; Alexandrov, Ludmil B ; Edmonson, Michael N ; Gawad, Charles ; Zhou, Xin ; Li, Yongjin ; Rusch, Michael C ; Easton, John ; Huether, Robert ; Gonzalez-Pena, Veronica ; Wilkinson, Mark R ; Hermida, Leandro C ; Davis, Sean ; Sioson, Edgar ; Pounds, Stanley ; Cao, Xueyuan ; Ries, Rhonda E ; Wang, Zhaoming ; Chen, Xiang ; Dong, Li ; Diskin, Sharon J ; Smith, Malcolm A ; Guidry Auvil, Jaime M ; Meltzer, Paul S ; Lau, Ching C ; Perlman, Elizabeth J ; Maris, John M ; Meshinchi, Soheil ; Hunger, Stephen P ; Gerhard, Daniela S ; Zhang, JinghuiNature (London), 2018-03, Vol.555 (7696), p.371-376 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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4 |
Material Type: Artigo
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Tissue-specific mutation accumulation in human adult stem cells during lifeBlokzijl, Francis ; de Ligt, Joep ; Jager, Myrthe ; Sasselli, Valentina ; Roerink, Sophie ; Sasaki, Nobuo ; Huch, Meritxell ; Boymans, Sander ; Kuijk, Ewart ; Prins, Pjotr ; Nijman, Isaac J ; Martincorena, Inigo ; Mokry, Michal ; Wiegerinck, Caroline L ; Middendorp, Sabine ; Sato, Toshiro ; Schwank, Gerald ; Nieuwenhuis, Edward E S ; Verstegen, Monique M A ; van der Laan, Luc J W ; de Jonge, Jeroen ; IJzermans, Jan N M ; Vries, Robert G ; van de Wetering, Marc ; Stratton, Michael R ; Clevers, Hans ; Cuppen, Edwin ; van Boxtel, RubenNature (London), 2016-10, Vol.538 (7624), p.260-264 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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5 |
Material Type: Artigo
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Landscape of somatic mutations in 560 breast cancer whole-genome sequencesNik-Zainal, Serena ; Davies, Helen ; Staaf, Johan ; Ramakrishna, Manasa ; Glodzik, Dominik ; Zou, Xueqing ; Martincorena, Inigo ; Alexandrov, Ludmil B ; Martin, Sancha ; Wedge, David C ; Van Loo, Peter ; Ju, Young Seok ; Smid, Marcel ; Brinkman, Arie B ; Morganella, Sandro ; Aure, Miriam R ; Lingjærde, Ole Christian ; Langerød, Anita ; Ringnér, Markus ; Ahn, Sung-Min ; Boyault, Sandrine ; Brock, Jane E ; Broeks, Annegien ; Butler, Adam ; Desmedt, Christine ; Dirix, Luc ; Dronov, Serge ; Fatima, Aquila ; Foekens, John A ; Gerstung, Moritz ; Hooijer, Gerrit K J ; Jang, Se Jin ; Jones, David R ; Kim, Hyung-Yong ; King, Tari A ; Krishnamurthy, Savitri ; Lee, Hee Jin ; Lee, Jeong-Yeon ; Li, Yilong ; McLaren, Stuart ; Menzies, Andrew ; Mustonen, Ville ; O'Meara, Sarah ; Pauporté, Iris ; Pivot, Xavier ; Purdie, Colin A ; Raine, Keiran ; Ramakrishnan, Kamna ; Rodríguez-González, F Germán ; Romieu, Gilles ; Sieuwerts, Anieta M ; Simpson, Peter T ; Shepherd, Rebecca ; Stebbings, Lucy ; Stefansson, Olafur A ; Teague, Jon ; Tommasi, Stefania ; Treilleux, Isabelle ; Van den Eynden, Gert G ; Vermeulen, Peter ; Vincent-Salomon, Anne ; Yates, Lucy ; Caldas, Carlos ; van't Veer, Laura ; Tutt, Andrew ; Knappskog, Stian ; Tan, Benita Kiat Tee ; Jonkers, Jos ; Borg, Åke ; Ueno, Naoto T ; Sotiriou, Christos ; Viari, Alain ; Futreal, P Andrew ; Campbell, Peter J ; Span, Paul N ; Van Laere, Steven ; Lakhani, Sunil R ; Eyfjord, Jorunn E ; Thompson, Alastair M ; Birney, Ewan ; Stunnenberg, Hendrik G ; van de Vijver, Marc J ; Martens, John W M ; Børresen-Dale, Anne-Lise ; Richardson, Andrea L ; Kong, Gu ; Thomas, Gilles ; Stratton, Michael RNature (London), 2016-06, Vol.534 (7605), p.47-54 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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6 |
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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7 |
Material Type: Artigo
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Efficient mutagenesis by Cas9 protein-mediated oligonucleotide insertion and large-scale assessment of single-guide RNAsGagnon, James A ; Valen, Eivind ; Thyme, Summer B ; Huang, Peng ; Akhmetova, Laila ; Ahkmetova, Laila ; Pauli, Andrea ; Montague, Tessa G ; Zimmerman, Steven ; Richter, Constance ; Schier, Alexander F Riley, BrucePloS one, 2014-05, Vol.9 (5), p.e98186 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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8 |
Material Type: Artigo
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The mutational constraint spectrum quantified from variation in 141,456 humansKarczewski, Konrad J ; Francioli, Laurent C ; Tiao, Grace ; Cummings, Beryl B ; Alföldi, Jessica ; Wang, Qingbo ; Collins, Ryan L ; Laricchia, Kristen M ; Ganna, Andrea ; Birnbaum, Daniel P ; Gauthier, Laura D ; Brand, Harrison ; Solomonson, Matthew ; Watts, Nicholas A ; Rhodes, Daniel ; Singer-Berk, Moriel ; England, Eleina M ; Seaby, Eleanor G ; Kosmicki, Jack A ; Walters, Raymond K ; Tashman, Katherine ; Farjoun, Yossi ; Banks, Eric ; Poterba, Timothy ; Wang, Arcturus ; Seed, Cotton ; Whiffin, Nicola ; Chong, Jessica X ; Samocha, Kaitlin E ; Pierce-Hoffman, Emma ; Zappala, Zachary ; O'Donnell-Luria, Anne H ; Minikel, Eric Vallabh ; Weisburd, Ben ; Lek, Monkol ; Ware, James S ; Vittal, Christopher ; Armean, Irina M ; Bergelson, Louis ; Cibulskis, Kristian ; Connolly, Kristen M ; Covarrubias, Miguel ; Donnelly, Stacey ; Ferriera, Steven ; Gabriel, Stacey ; Gentry, Jeff ; Gupta, Namrata ; Jeandet, Thibault ; Kaplan, Diane ; Llanwarne, Christopher ; Munshi, Ruchi ; Novod, Sam ; Petrillo, Nikelle ; Roazen, David ; Ruano-Rubio, Valentin ; Saltzman, Andrea ; Schleicher, Molly ; Soto, Jose ; Tibbetts, Kathleen ; Tolonen, Charlotte ; Wade, Gordon ; Talkowski, Michael E ; Neale, Benjamin M ; Daly, Mark J ; MacArthur, Daniel GNature (London), 2020-05, Vol.581 (7809), p.434-443 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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9 |
Material Type: Artigo
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Frequent Mutation of BAP1 in Metastasizing Uveal MelanomasHarbour, J. William ; Onken, Michael D ; Roberson, Elisha D.O ; Duan, Shenghui ; Cao, Li ; Worley, Lori A ; Council, M. Laurin ; Matatall, Katie A ; Helms, Cynthia ; Bowcock, Anne MScience (American Association for the Advancement of Science), 2010-12, Vol.330 (6009), p.1410-1413 [Periódico revisado por pares]Washington, DC: American Association for the Advancement of ScienceTexto completo disponível |
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10 |
Material Type: Artigo
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ARID1A loss impairs enhancer-mediated gene regulation and drives colon cancer in miceMathur, Radhika ; Alver, Burak H ; San Roman, Adrianna K ; Wilson, Boris G ; Wang, Xiaofeng ; Agoston, Agoston T ; Park, Peter J ; Shivdasani, Ramesh A ; Roberts, Charles W MNature genetics, 2017-02, Vol.49 (2), p.296-302 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |