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Comprehensive Analysis of Hypermutation in Human Cancer
Comprehensive Analysis of Hypermutation in Human Cancer
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Comprehensive Analysis of Hypermutation in Human Cancer

Campbell, Brittany B. ; Light, Nicholas ; Fabrizio, David ; Zatzman, Matthew ; Fuligni, Fabio ; de Borja, Richard ; Davidson, Scott ; Edwards, Melissa ; Elvin, Julia A. ; Hodel, Karl P. ; Zahurancik, Walter J. ; Suo, Zucai ; Lipman, Tatiana ; Wimmer, Katharina ; Kratz, Christian P. ; Bowers, Daniel C. ; Laetsch, Theodore W. ; Dunn, Gavin P. ; Johanns, Tanner M. ; Grimmer, Matthew R. ; Smirnov, Ivan V. ; Larouche, Valérie ; Samuel, David ; Bronsema, Annika ; Osborn, Michael ; Stearns, Duncan ; Raman, Pichai ; Cole, Kristina A. ; Storm, Phillip B. ; Yalon, Michal ; Opocher, Enrico ; Mason, Gary ; Thomas, Gregory A. ; Sabel, Magnus ; George, Ben ; Ziegler, David S. ; Lindhorst, Scott ; Issai, Vanan Magimairajan ; Constantini, Shlomi ; Toledano, Helen ; Elhasid, Ronit ; Farah, Roula ; Dvir, Rina ; Dirks, Peter ; Huang, Annie ; Galati, Melissa A. ; Chung, Jiil ; Ramaswamy, Vijay ; Irwin, Meredith S. ; Aronson, Melyssa ; Durno, Carol ; Taylor, Michael D. ; Rechavi, Gideon ; Maris, John M. ; Bouffet, Eric ; Hawkins, Cynthia ; Costello, Joseph F. ; Meyn, M. Stephen ; Pursell, Zachary F. ; Malkin, David ; Tabori, Uri ; Shlien, Adam

Cell, 2017-11, Vol.171 (5), p.1042-1056.e10 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Comprehensive Transcriptional Analysis of Early-Stage Urothelial Carcinoma
Comprehensive Transcriptional Analysis of Early-Stage Urothelial Carcinoma
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Comprehensive Transcriptional Analysis of Early-Stage Urothelial Carcinoma

Hedegaard, Jakob ; Lamy, Philippe ; Nordentoft, Iver ; Algaba, Ferran ; Høyer, Søren ; Ulhøi, Benedicte Parm ; Vang, Søren ; Reinert, Thomas ; Hermann, Gregers G. ; Mogensen, Karin ; Thomsen, Mathilde Borg Houlberg ; Nielsen, Morten Muhlig ; Marquez, Mirari ; Segersten, Ulrika ; Aine, Mattias ; Höglund, Mattias ; Birkenkamp-Demtröder, Karin ; Fristrup, Niels ; Borre, Michael ; Hartmann, Arndt ; Stöhr, Robert ; Wach, Sven ; Keck, Bastian ; Seitz, Anna Katharina ; Nawroth, Roman ; Maurer, Tobias ; Tulic, Cane ; Simic, Tatjana ; Junker, Kerstin ; Horstmann, Marcus ; Harving, Niels ; Petersen, Astrid Christine ; Calle, M. Luz ; Steyerberg, Ewout W. ; Beukers, Willemien ; van Kessel, Kim E.M. ; Jensen, Jørgen Bjerggaard ; Pedersen, Jakob Skou ; Malmström, Per-Uno ; Malats, Núria ; Real, Francisco X. ; Zwarthoff, Ellen C. ; Ørntoft, Torben Falck ; Dyrskjøt, Lars

Cancer cell, 2016-07, Vol.30 (1), p.27-42 [Periódico revisado por pares]

United States: Elsevier Inc

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3
A practical approach to curate clonal hematopoiesis of indeterminate potential in human genetic data sets
A practical approach to curate clonal hematopoiesis of indeterminate potential in human genetic data sets
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A practical approach to curate clonal hematopoiesis of indeterminate potential in human genetic data sets

Vlasschaert, Caitlyn ; Mack, Taralynn ; Heimlich, J. Brett ; Niroula, Abhishek ; Uddin, Md Mesbah ; Weinstock, Joshua ; Sharber, Brian ; Silver, Alexander J. ; Xu, Yaomin ; Savona, Michael ; Gibson, Christopher ; Lanktree, Matthew B. ; Rauh, Michael J. ; Ebert, Benjamin L. ; Natarajan, Pradeep ; Jaiswal, Siddhartha ; Bick, Alexander G.

Blood, 2023-05, Vol.141 (18), p.2214-2223 [Periódico revisado por pares]

United States: Elsevier Inc

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4
A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns
A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns
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A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns

Jiao, Wei ; Atwal, Gurnit ; Polak, Paz ; Karlic, Rosa ; Cuppen, Edwin ; Danyi, Alexandra ; de Ridder, Jeroen ; van Herpen, Carla ; Lolkema, Martijn P ; Steeghs, Neeltje ; Getz, Gad ; Morris, Quaid D ; Stein, Lincoln D

Nature communications, 2020-02, Vol.11 (1), p.728-728, Article 728 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer
Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer
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Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer

Rebbeck, Timothy R ; Mitra, Nandita ; Wan, Fei ; Sinilnikova, Olga M ; Healey, Sue ; McGuffog, Lesley ; Mazoyer, Sylvie ; Chenevix-Trench, Georgia ; Nathanson, Katherine L ; Kushnir, Anya ; Zidan, Jamal ; Ehrencrona, Hans ; Stenmark-Askmalm, Marie ; Melin, Beatrice ; Huo, Dezheng ; Olopade, Olufunmilayo I ; Odunsi, Kunle ; Domchek, Susan M ; Karlan, Beth Y ; Walsh, Christine ; Chung, Wendy K ; Janavicius, Ramunas ; Steele, Linda ; Ejlertsen, Bent ; Hansen, Thomas v. O ; Benitez, Javier ; Godino, Javier ; Duran, Mercedes ; Weitzel, Jeffrey N ; Bobolis, Kristie A ; Peissel, Bernard ; Genuardi, Maurizio ; Manoukian, Siranoush ; Pensotti, Valeria ; Gismondi, Viviana ; Fostira, Florentia ; Frost, Debra ; Platte, Radka ; Davidson, Rosemarie ; Eccles, Diana ; Hodgson, Shirley ; Porteous, Mary E ; Izatt, Louise ; Donaldson, Alan ; Ellis, Steve ; Schmutzler, Rita Katharina ; Becker, Alexandra ; Engel, Christoph ; Mundhenke, Christoph ; Niederacher, Dieter ; Fleisch, Markus ; Sutter, Christian ; Gadzicki, Dorothea ; Varon-Mateeva, Raymonda ; Gehrig, Andrea ; Weber, Bernhard H ; Mazoyer, Sylvie ; Gauthier-Villars, Marion ; Peyrat, Jean-Philippe ; Muller, Danièle ; De Paepe, Anne ; De Leeneer, Kim ; Piedmonte, Marion ; Rodriguez, Gustavo ; Blank, Stephanie V ; Azodi, Masoud ; Phillips, Kelly-Anne ; de la Hoya, Miguel ; Romero, Atocha ; Aittomäki, Kristiina ; Oosterwijk, Jan C ; Wijnen, Juul T ; Ausems, Margreet G. E. M ; Aalfs, Cora M ; Kwong, Ava ; Darder, Esther ; Blanco, Ignacio ; Durda, Katarzyna ; Sukiennicki, Grzegorz ; Byrski, Tomasz ; Toloczko-Grabarek, Aleksandra ; Arason, Adalgeir ; Laframboise, Rachel ; Agata, Simona ; Lee, Min Hyuk ; Park, Sue K ; Lindor, Noralane M ; Tischkowitz, Marc ; Vijai, Joseph ; Offit, Kenneth ; Rau-Murthy, Rohini ; Fink-Retter, Anneliese ; Singer, Christian F ; Pfeiler, Georg ; Senter, Leigha ; Pedersen, Inge Sokilde ; Sunde, Lone ; Thomassen, Mads ; Teo, Soo-Hwang ; Hulick, Peter J

JAMA : the journal of the American Medical Association, 2015-04, Vol.313 (13), p.1347-1361 [Periódico revisado por pares]

United States: American Medical Association

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6
Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets
Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets
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Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets

Newell, Felicity ; Kong, Yan ; Wilmott, James S ; Johansson, Peter A ; Ferguson, Peter M ; Cui, Chuanliang ; Li, Zhongwu ; Kazakoff, Stephen H ; Burke, Hazel ; Dodds, Tristan J ; Patch, Ann-Marie ; Nones, Katia ; Tembe, Varsha ; Shang, Ping ; van der Weyden, Louise ; Wong, Kim ; Holmes, Oliver ; Lo, Serigne ; Leonard, Conrad ; Wood, Scott ; Xu, Qinying ; Rawson, Robert V ; Mukhopadhyay, Pamela ; Dummer, Reinhard ; Levesque, Mitchell P ; Jönsson, Göran ; Wang, Xuan ; Yeh, Iwei ; Wu, Hong ; Joseph, Nancy ; Bastian, Boris C ; Long, Georgina V ; Spillane, Andrew J ; Shannon, Kerwin F ; Thompson, John F ; Saw, Robyn P M ; Adams, David J ; Si, Lu ; Pearson, John V ; Hayward, Nicholas K ; Waddell, Nicola ; Mann, Graham J ; Guo, Jun ; Scolyer, Richard A

Nature communications, 2019-07, Vol.10 (1), p.3163-15, Article 3163 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease
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Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

Stitziel, Nathan O ; Stirrups, Kathleen E ; Masca, Nicholas G D ; Erdmann, Jeanette ; Ferrario, Paola G ; Webb, Thomas R ; Schick, Ursula M ; Lu, Yingchang ; Zhang, He ; Dube, Marie-Pierre ; Goel, Anuj ; Peloso, Gina M ; Won, Hong-Hee ; Do, Ron ; van Iperen, Erik ; Kanoni, Stavroula ; Mahajan, Anubha ; Scott, Robert A ; Willenberg, Christina ; van Capelleveen, Julian C ; Doney, Alex S F ; Asselta, Rosanna ; Merlini, Piera A ; Duga, Stefano ; Marziliano, Nicola ; Denny, Josh C ; Shaffer, Christian M ; Heilmann, Stefanie ; Hengstenberg, Christian ; Hoffman, Per ; Jansson, Jan-Håkan ; Jöckel, Karl-Heinz ; Kessler, Thorsten ; Kriebel, Jennifer ; Laugwitz, Karl L ; Marouli, Eirini ; Martinelli, Nicola ; Van Zuydam, Natalie R ; Meisinger, Christa ; Esko, Tõnu ; Mihailov, Evelin ; Escher, Stefan A ; Alver, Maris ; Moebus, Susanne ; Morris, Andrew D ; Müller-Nurasyid, Martina ; Olivieri, Oliviero ; Lemieux Perreault, Louis-Philippe ; AlQarawi, Alaa ; Robertson, Neil R ; Akinsanya, Karen O ; Reilly, Dermot F ; Vogt, Thomas F ; Yin, Wu ; Asselbergs, Folkert W ; Kooperberg, Charles ; Jackson, Rebecca D ; Stahl, Eli ; Waldenberger, Melanie ; Zeng, Lingyao ; Kraja, Aldi T ; Liu, Chunyu ; Ehret, George B ; Newton-Cheh, Christopher ; Chowdhury, Rajiv ; Ford, Ian ; Jukema, J Wouter ; Kee, Frank ; Nordestgaard, Børge G ; Sattar, Naveed ; Surendran, Praveen ; Tregouet, David ; Young, Robin ; Howson, Joanna M M ; Butterworth, Adam S ; Danesh, John ; Bottinger, Erwin P ; Erbel, Raimund ; Franks, Paul W ; Girelli, Domenico ; Hall, Alistair S ; Hovingh, G Kees ; Kastrati, Adnan ; Lieb, Wolfgang ; Meitinger, Thomas ; Kraus, William E ; McPherson, Ruth ; Orho-Melander, Marju ; Metspalu, Andres ; Palmer, Colin N A ; Rader, Daniel ; Loos, Ruth J F ; Tardif, Jean-Claude ; Wareham, Nicholas J ; Watkins, Hugh ; Willer, Cristen J ; Kathiresan, Sekkar ; Deloukas, Panos ; Samani, Nilesh J ; Schunkert, Heribert

The New England journal of medicine, 2016-03, Vol.374 (12), p.1134-1144 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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8
TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal
TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal
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TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal

Killela, Patrick J. ; Reitman, Zachary J. ; Jiao, Yuchen ; Bettegowda, Chetan ; Agrawal, Nishant ; Diaz, Luis A. ; Friedman, Allan H. ; Friedman, Henry ; Gallia, Gary L. ; Giovanella, Beppino C. ; Grollman, Arthur P. ; He, Tong-Chuan ; He, Yiping ; Hruban, Ralph H. ; Jallo, George I. ; Mandahl, Nils ; Meeker, Alan K. ; Mertens, Fredrik ; Netto, George J. ; Rasheed, B. Ahmed ; Riggins, Gregory J. ; Rosenquist, Thomas A. ; Schiffman, Mark ; Shih, Ie-Ming ; Theodorescu, Dan ; Torbenson, Michael S. ; Velculescu, Victor E. ; Wang, Tian-Li ; Wentzensen, Nicolas ; Wood, Laura D. ; Zhang, Ming ; McLendon, Roger E. ; Bigner, Darell D. ; Kinzler, Kenneth W. ; Vogelstein, Bert ; Papadopoulos, Nickolas ; Yan, Hai

Proceedings of the National Academy of Sciences - PNAS, 2013-04, Vol.110 (15), p.6021-6026 [Periódico revisado por pares]

United States: National Academy of Sciences

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9
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
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Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Wang, Qingbo ; Pierce-Hoffman, Emma ; Cummings, Beryl B ; Alföldi, Jessica ; Francioli, Laurent C ; Gauthier, Laura D ; Hill, Andrew J ; O'Donnell-Luria, Anne H ; Karczewski, Konrad J ; MacArthur, Daniel G

Nature communications, 2020-05, Vol.11 (1), p.2539-13, Article 2539 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Functional variants in the sucrase–isomaltase gene associate with increased risk of irritable bowel syndrome
Functional variants in the sucrase–isomaltase gene associate with increased risk of irritable bowel syndrome
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Functional variants in the sucrase–isomaltase gene associate with increased risk of irritable bowel syndrome

Henström, Maria ; Diekmann, Lena ; Bonfiglio, Ferdinando ; Hadizadeh, Fatemeh ; Kuech, Eva-Maria ; von Köckritz-Blickwede, Maren ; Thingholm, Louise B ; Zheng, Tenghao ; Assadi, Ghazaleh ; Dierks, Claudia ; Heine, Martin ; Philipp, Ute ; Distl, Ottmar ; Money, Mary E ; Belheouane, Meriem ; Heinsen, Femke-Anouska ; Rafter, Joseph ; Nardone, Gerardo ; Cuomo, Rosario ; Usai-Satta, Paolo ; Galeazzi, Francesca ; Neri, Matteo ; Walter, Susanna ; Simrén, Magnus ; Karling, Pontus ; Ohlsson, Bodil ; Schmidt, Peter T ; Lindberg, Greger ; Dlugosz, Aldona ; Agreus, Lars ; Andreasson, Anna ; Mayer, Emeran ; Baines, John F ; Engstrand, Lars ; Portincasa, Piero ; Bellini, Massimo ; Stanghellini, Vincenzo ; Barbara, Giovanni ; Chang, Lin ; Camilleri, Michael ; Franke, Andre ; Naim, Hassan Y ; D'Amato, Mauro

Gut, 2018-02, Vol.67 (2), p.263-270 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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