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Refinado por: Base de dados/Biblioteca: BACON - Mir@bel - GLOBAL_LIBRESACCES remover assunto: Mutation remover
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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
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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3
PON-P2: prediction method for fast and reliable identification of harmful variants
PON-P2: prediction method for fast and reliable identification of harmful variants
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PON-P2: prediction method for fast and reliable identification of harmful variants

Niroula, Abhishek ; Urolagin, Siddhaling ; Vihinen, Mauno Tosatto, Silvio C E

PloS one, 2015-02, Vol.10 (2), p.e0117380-e0117380 [Periódico revisado por pares]

United States: Public Library of Science

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4
Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes
Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes
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Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes

Sakthikumar, Sharadha ; Roy, Ananya ; Haseeb, Lulu ; Pettersson, Mats E ; Sundström, Elisabeth ; Marinescu, Voichita D ; Lindblad-Toh, Kerstin ; Forsberg-Nilsson, Karin

Genome Biology, 2020-06, Vol.21 (1), p.127-127, Article 127 [Periódico revisado por pares]

England: BioMed Central Ltd

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5
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk
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Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

Couch, Fergus J ; Soucy, Penny ; Dicks, Ed ; Sinilnikova, Olga M ; Bacot, François ; Vincent, Daniel ; Hogervorst, Frans B L ; Peock, Susan ; Radice, Paolo ; Singer, Christian F ; Friedman, Eitan ; Hansen, Thomas V O ; Neuhausen, Susan L ; Blanco, Ignacio ; Greene, Mark H ; Karlan, Beth Y ; Montagna, Marco ; Godwin, Andrew K ; Caldes, Trinidad ; van Rensburg, Elizabeth J ; Olopade, Olufunmilayo I ; Southey, Melissa C ; Kwong, Ava ; Diez, Orland ; Rennert, Gad ; Seynaeve, Caroline ; Rookus, Matti A ; Verhoef, Senno ; Wijnen, Juul T ; Frost, Debra ; Fineberg, Elena ; Eccles, Diana M ; Douglas, Fiona ; Morrison, Patrick J ; Rogers, Mark T ; Gregory, Helen ; McCann, Emma ; Murray, Alex ; Calender, Alain ; Berthet, Pascaline ; Lasset, Christine ; Rouleau, Etienne ; Damiola, Francesca ; Sobol, Hagay ; Gauthier-Villars, Marion ; Lubinski, Jan ; Jaworska, Katarzyna ; Spurdle, Amanda B ; Bonanni, Bernardo ; Ottini, Laura ; Papi, Laura ; Volorio, Sara ; Pensotti, Valeria ; Arnold, Norbert ; Gehrig, Andrea ; Kast, Karin ; Meindl, Alfons ; Ditsch, Nina ; Plendl, Hansjoerg ; Varon-Mateeva, Raymonda ; Weber, Bernhard H F ; Arver, Brita ; Rosenquist, Richard ; Cohn, David E ; Small, Laurie ; Friedlander, Michael ; Fink-Retter, Anneliese ; Rappaport, Christine ; Gschwantler-Kaulich, Daphne ; Pfeiler, Georg ; Lindor, Noralane M ; Kaufman, Bella ; Gerdes, Anne-Marie ; Moeller, Sanne Traasdahl ; Kruse, Torben A ; Robson, Mark ; Mulligan, Anna Marie ; Andersen, Mette K ; Steele, Linda ; Foretova, Lenka ; Lazaro, Conxi ; Brunet, Joan ; Pujana, Miquel Angel ; Mai, Phuong L ; Loud, Jennifer T ; Lester, Jenny ; Sand, Sharon R ; Agata, Simona ; Weaver, Joellen ; Stavropoulou, Alexandra V ; Muranen, Taru A ; Duran, Mercedes ; Lasa, Adriana ; Miron, Alexander ; Chan, Salina B ; Lejbkowicz, Flavio ; Wang, Chen ; Pastinen, Tomi ; Easton, Douglas F ; Antoniou, Antonis C Hunter, Kent W.

PLoS genetics, 2013, Vol.9 (3), p.e1003212-e1003212 [Periódico revisado por pares]

United States: Public Library of Science

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6
Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults
Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults
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Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

Graff, Mariaelisa ; Scott, Robert A ; Young, Kristin L ; Winkler, Thomas W ; Chu, Audrey Y ; den Hoed, Marcel ; Ahluwalia, Tarunveer S ; Quaye, Lydia ; Eicher, John D ; Hayes, James E ; Kutalik, Zoltan ; Lim, Elise ; Luan, Jian'an ; Haller, Toomas ; Bien, Stephanie ; Teumer, Alexander ; Kleber, Marcus E ; Rivera, Natalia V ; Zhao, Jing Hua ; Stringham, Heather M ; Lyytikäinen, Leo-Pekka ; Huppertz, Charlotte ; Peyrot, Wouter J ; Wu, Ying ; Fornage, Myriam ; Hassinen, Maija ; Cadby, Gemma ; Jackson, Anne U ; Bragg-Gresham, Jennifer L ; Marten, Jonathan ; Bellis, Claire ; Pasko, Dorota ; Cheng, Yu-Ching ; Eriksson, Joel ; Aadahl, Mette ; Adair, Linda S ; Balkau, Beverley ; Bergmann, Sven ; Borja, Judith B ; Chines, Peter S ; Corre, Tanguy ; Dueker, Nicole ; Eiriksdottir, Gudny ; Esko, Tõnu ; Grammer, Tanja B ; Hernandez, Dena ; Hui, Jennie ; James, Alan L ; Jhun, Min A ; Juonala, Markus ; Launer, Lenore J ; Lindgren, Cecilia M ; Lorentzon, Mattias ; Luben, Robert ; Marre, Michel ; Milaneschi, Yuri ; Narisu, Narisu ; Nauck, Matthias ; Nolte, Ilja M ; Oldehinkel, Albertine J ; Peyser, Patricia A ; Rawal, Rajesh ; Ridker, Paul M ; Rose, Lynda M ; Sarzynski, Mark A ; Snieder, Harold ; Stančáková, Alena ; Sternfeld, Barbara ; Swift, Amy J ; van Vliet-Ostaptchouk, Jana V ; Vohl, Marie-Claude ; Waeber, Gérard ; Walker, Mark ; Wild, Sarah ; Wright, Alan F ; Lemarchand, Loic ; Hofman, Albert ; Rivadeneira, Fernando ; Pérusse, Louis ; Wilson, James F ; Hayward, Caroline ; Hartman, Catharina A ; Tönjes, Anke ; Kardia, Sharon L R ; Salomaa, Veikko ; Penninx, Brenda W J H ; Laakso, Markku ; März, Winfried ; Kooner, Jaspal S ; Hallmans, Göran ; Hansen, Torben ; Metspalu, Andres ; Weir, David R ; Boerwinkle, Eric ; Chasman, Daniel I ; O'Connell, Jeffrey R ; Mohlke, Karen L ; Liu, Ching-Ti ; Hirschhorn, Joel N ; Loos, Ruth J F Edwards, Todd L.

PLoS genetics, 2017-04, Vol.13 (4), p.e1006528 [Periódico revisado por pares]

United States: Public Library of Science

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7
Genetics of smoking and risk of clonal hematopoiesis
Genetics of smoking and risk of clonal hematopoiesis
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Genetics of smoking and risk of clonal hematopoiesis

Levin, Michael G ; Nakao, Tetsushi ; Zekavat, Seyedeh M ; Koyama, Satoshi ; Bick, Alexander G ; Niroula, Abhishek ; Ebert, Benjamin ; Damrauer, Scott M ; Natarajan, Pradeep

Scientific reports, 2022-05, Vol.12 (1), p.7248-7248, Article 7248 [Periódico revisado por pares]

England: Nature Publishing Group

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8
The TP53 website: an integrative resource centre for the TP53 mutation database and TP53 mutant analysis
The TP53 website: an integrative resource centre for the TP53 mutation database and TP53 mutant analysis
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The TP53 website: an integrative resource centre for the TP53 mutation database and TP53 mutant analysis

Leroy, Bernard ; Fournier, Jean Louis ; Ishioka, Chikashi ; Monti, Paola ; Inga, Alberto ; Fronza, Gilberto ; Soussi, Thierry

Nucleic acids research, 2013-01, Vol.41 (Database issue), p.D962-D969 [Periódico revisado por pares]

England: Oxford University Press

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9
A seventeenth-century Mycobacterium tuberculosis genome supports a Neolithic emergence of the Mycobacterium tuberculosis complex
A seventeenth-century Mycobacterium tuberculosis genome supports a Neolithic emergence of the Mycobacterium tuberculosis complex
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A seventeenth-century Mycobacterium tuberculosis genome supports a Neolithic emergence of the Mycobacterium tuberculosis complex

Sabin, Susanna ; Herbig, Alexander ; Vågene, Åshild J. ; Ahlström, Torbjörn ; Bozovic, Gracijela ; Arcini, Caroline ; Kühnert, Denise ; Bos, Kirsten I.

Genome Biology, 2020-08, Vol.21 (1), p.1-201, Article 201 [Periódico revisado por pares]

London: BioMed Central Ltd

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10
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
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The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy

Wissinger, Bernd ; Baumann, Britta ; Buena-Atienza, Elena ; Ravesh, Zeinab ; Cideciyan, Artur V ; Stingl, Katarina ; Audo, Isabelle ; Meunier, Isabelle ; Bocquet, Beatrice ; Traboulsi, Elias I ; Hardcastle, Alison J ; Gardner, Jessica C ; Michaelides, Michel ; Branham, Kari E ; Rosenberg, Thomas ; Andreasson, Sten ; Dollfus, Hélène ; Birch, David ; Vincent, Andrea L ; Martorell, Loreto ; Català Mora, Jaume ; Kellner, Ulrich ; Rüther, Klaus ; Lorenz, Birgit ; Preising, Markus N ; Manfredini, Emanuela ; Zarate, Yuri A ; Vijzelaar, Raymon ; Zrenner, Eberhart ; Jacobson, Samuel G ; Kohl, Susanne

Proceedings of the National Academy of Sciences - PNAS, 2022-07, Vol.119 (27), p.e2115538119 [Periódico revisado por pares]

United States: National Academy of Sciences

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