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Refinado por: assunto: Genomes remover assunto: Mutation remover
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Inferring the molecular and phenotypic impact of amino acid variants with MutPred2
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2
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Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

Pejaver, Vikas ; Urresti, Jorge ; Lugo-Martinez, Jose ; Pagel, Kymberleigh A ; Lin, Guan Ning ; Nam, Hyun-Jun ; Mort, Matthew ; Cooper, David N ; Sebat, Jonathan ; Iakoucheva, Lilia M ; Mooney, Sean D ; Radivojac, Predrag

Nature communications, 2020-11, Vol.11 (1), p.5918-13, Article 5918 [Periódico revisado por pares]

England: Nature Publishing Group

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2
High-throughput discovery of novel developmental phenotypes
High-throughput discovery of novel developmental phenotypes
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High-throughput discovery of novel developmental phenotypes

Dickinson, Mary E ; Flenniken, Ann M ; Ji, Xiao ; Teboul, Lydia ; Wong, Michael D ; White, Jacqueline K ; Meehan, Terrence F ; Weninger, Wolfgang J ; Westerberg, Henrik ; Adissu, Hibret ; Baker, Candice N ; Bower, Lynette ; Brown, James M ; Caddle, L Brianna ; Chiani, Francesco ; Clary, Dave ; Cleak, James ; Daly, Mark J ; Denegre, James M ; Doe, Brendan ; Dolan, Mary E ; Edie, Sarah M ; Fuchs, Helmut ; Gailus-Durner, Valerie ; Galli, Antonella ; Gambadoro, Alessia ; Gallegos, Juan ; Guo, Shiying ; Horner, Neil R ; Hsu, Chih-Wei ; Johnson, Sara J ; Kalaga, Sowmya ; Keith, Lance C ; Lanoue, Louise ; Lawson, Thomas N ; Lek, Monkol ; Mark, Manuel ; Marschall, Susan ; Mason, Jeremy ; McElwee, Melissa L ; Newbigging, Susan ; Nutter, Lauryl M J ; Peterson, Kevin A ; Ramirez-Solis, Ramiro ; Rowland, Douglas J ; Ryder, Edward ; Samocha, Kaitlin E ; Seavitt, John R ; Selloum, Mohammed ; Szoke-Kovacs, Zsombor ; Tamura, Masaru ; Trainor, Amanda G ; Tudose, Ilinca ; Wakana, Shigeharu ; Warren, Jonathan ; Wendling, Olivia ; West, David B ; Wong, Leeyean ; Yoshiki, Atsushi ; MacArthur, Daniel G ; Tocchini-Valentini, Glauco P ; Gao, Xiang ; Flicek, Paul ; Bradley, Allan ; Skarnes, William C ; Justice, Monica J ; Parkinson, Helen E ; Moore, Mark ; Wells, Sara ; Braun, Robert E ; Svenson, Karen L ; de Angelis, Martin Hrabe ; Herault, Yann ; Mohun, Tim ; Mallon, Ann-Marie ; Henkelman, R Mark ; Brown, Steve D M ; Adams, David J ; Lloyd, K C Kent ; McKerlie, Colin ; Beaudet, Arthur L ; Bućan, Maja ; Murray, Stephen A

Nature (London), 2016-09, Vol.537 (7621), p.508-514 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Genome-scale CRISPR-Cas9 knockout and transcriptional activation screening
Genome-scale CRISPR-Cas9 knockout and transcriptional activation screening
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Genome-scale CRISPR-Cas9 knockout and transcriptional activation screening

Joung, Julia ; Konermann, Silvana ; Gootenberg, Jonathan S ; Abudayyeh, Omar O ; Platt, Randall J ; Brigham, Mark D ; Sanjana, Neville E ; Zhang, Feng

Nature protocols, 2017-04, Vol.12 (4), p.828-863 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Efficient multiplex biallelic zebrafish genome editing using a CRISPR nuclease system
Efficient multiplex biallelic zebrafish genome editing using a CRISPR nuclease system
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Efficient multiplex biallelic zebrafish genome editing using a CRISPR nuclease system

Jao, Li-En ; Wente, Susan R. ; Chen, Wenbiao

Proceedings of the National Academy of Sciences - PNAS, 2013-08, Vol.110 (34), p.13904-13909 [Periódico revisado por pares]

United States: National Academy of Sciences

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5
Prediction of Susceptibility to First-Line Tuberculosis Drugs by DNA Sequencing
Prediction of Susceptibility to First-Line Tuberculosis Drugs by DNA Sequencing
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Prediction of Susceptibility to First-Line Tuberculosis Drugs by DNA Sequencing

Allix-Béguec, Caroline ; Arandjelovic, Irena ; Bi, Lijun ; Beckert, Patrick ; Bonnet, Maryline ; Bradley, Phelim ; Cabibbe, Andrea M ; Cancino-Muñoz, Irving ; Caulfield, Mark J ; Chaiprasert, Angkana ; Cirillo, Daniela M ; Clifton, David A ; Comas, Iñaki ; Crook, Derrick W ; De Filippo, Maria R ; de Neeling, Han ; Diel, Roland ; Drobniewski, Francis A ; Faksri, Kiatichai ; Farhat, Maha R ; Fleming, Joy ; Fowler, Philip ; Fowler, Tom A ; Gao, Qian ; Gardy, Jennifer ; Gascoyne-Binzi, Deborah ; Gibertoni-Cruz, Ana-Luiza ; Gil-Brusola, Ana ; Golubchik, Tanya ; Gonzalo, Ximena ; Grandjean, Louis ; He, Guangxue ; Guthrie, Jennifer L ; Hoosdally, Sarah ; Hunt, Martin ; Iqbal, Zamin ; Ismail, Nazir ; Johnston, James ; Khanzada, Faisal M ; Khor, Chiea C ; Kohl, Thomas A ; Kong, Clare ; Lipworth, Sam ; Liu, Qingyun ; Maphalala, Gugu ; Martinez, Elena ; Mathys, Vanessa ; Merker, Matthias ; Miotto, Paolo ; Mistry, Nerges ; Moore, David A J ; Murray, Megan ; Niemann, Stefan ; Omar, Shaheed V ; Ong, Rick T-H ; Peto, Tim E A ; Posey, James E ; Prammananan, Therdsak ; Pym, Alexander ; Rodrigues, Camilla ; Rodrigues, Mabel ; Rodwell, Timothy ; Rossolini, Gian M ; Sánchez Padilla, Elisabeth ; Schito, Marco ; Shen, Xin ; Shendure, Jay ; Sintchenko, Vitali ; Sloutsky, Alex ; Smith, E Grace ; Snyder, Matthew ; Soetaert, Karine ; Starks, Angela M ; Supply, Philip ; Suriyapol, Prapat ; Tahseen, Sabira ; Tang, Patrick ; Teo, Yik-Ying ; Thuong, Thuong N T ; Thwaites, Guy ; Tortoli, Enrico ; van Soolingen, Dick ; Walker, A Sarah ; Walker, Timothy M ; Wilcox, Mark ; Wilson, Daniel J ; Wyllie, David ; Yang, Yang ; Zhang, Hongtai ; Zhao, Yanlin ; Zhu, Baoli

The New England journal of medicine, 2018-10, Vol.379 (15), p.1403-1415 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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6
The genetic basis and cell of origin of mixed phenotype acute leukaemia
The genetic basis and cell of origin of mixed phenotype acute leukaemia
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The genetic basis and cell of origin of mixed phenotype acute leukaemia

Alexander, Thomas B ; Gu, Zhaohui ; Iacobucci, Ilaria ; Dickerson, Kirsten ; Choi, John K ; Xu, Beisi ; Payne-Turner, Debbie ; Yoshihara, Hiroki ; Loh, Mignon L ; Horan, John ; Buldini, Barbara ; Basso, Giuseppe ; Elitzur, Sarah ; de Haas, Valerie ; Zwaan, C Michel ; Yeoh, Allen ; Reinhardt, Dirk ; Tomizawa, Daisuke ; Kiyokawa, Nobutaka ; Lammens, Tim ; De Moerloose, Barbara ; Catchpoole, Daniel ; Hori, Hiroki ; Moorman, Anthony ; Moore, Andrew S ; Hrusak, Ondrej ; Meshinchi, Soheil ; Orgel, Etan ; Devidas, Meenakshi ; Borowitz, Michael ; Wood, Brent ; Heerema, Nyla A ; Carrol, Andrew ; Yang, Yung-Li ; Smith, Malcolm A ; Davidsen, Tanja M ; Hermida, Leandro C ; Gesuwan, Patee ; Marra, Marco A ; Ma, Yussanne ; Mungall, Andrew J ; Moore, Richard A ; Jones, Steven J M ; Valentine, Marcus ; Janke, Laura J ; Rubnitz, Jeffrey E ; Pui, Ching-Hon ; Ding, Liang ; Liu, Yu ; Zhang, Jinghui ; Nichols, Kim E ; Downing, James R ; Cao, Xueyuan ; Shi, Lei ; Pounds, Stanley ; Newman, Scott ; Pei, Deqing ; Guidry Auvil, Jaime M ; Gerhard, Daniela S ; Hunger, Stephen P ; Inaba, Hiroto ; Mullighan, Charles G

Nature (London), 2018-10, Vol.562 (7727), p.373-379 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Mapping the proteo-genomic convergence of human diseases
Mapping the proteo-genomic convergence of human diseases
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Mapping the proteo-genomic convergence of human diseases

Pietzner, Maik ; Wheeler, Eleanor ; Carrasco-Zanini, Julia ; Cortes, Adrian ; Koprulu, Mine ; Wörheide, Maria A ; Oerton, Erin ; Cook, James ; Stewart, Isobel D ; Kerrison, Nicola D ; Luan, Jian'an ; Raffler, Johannes ; Arnold, Matthias ; Arlt, Wiebke ; O'Rahilly, Stephen ; Kastenmüller, Gabi ; Gamazon, Eric R ; Hingorani, Aroon D ; Scott, Robert A ; Wareham, Nicholas J ; Langenberg, Claudia

Science (American Association for the Advancement of Science), 2021-11, Vol.374 (6569), p.eabj1541-eabj1541 [Periódico revisado por pares]

United States: The American Association for the Advancement of Science

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8
FOXA1 mutations alter pioneering activity, differentiation and prostate cancer phenotypes
FOXA1 mutations alter pioneering activity, differentiation and prostate cancer phenotypes
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FOXA1 mutations alter pioneering activity, differentiation and prostate cancer phenotypes

Adams, Elizabeth J ; Karthaus, Wouter R ; Hoover, Elizabeth ; Liu, Deli ; Gruet, Antoine ; Zhang, Zeda ; Cho, Hyunwoo ; DiLoreto, Rose ; Chhangawala, Sagar ; Liu, Yang ; Watson, Philip A ; Davicioni, Elai ; Sboner, Andrea ; Barbieri, Christopher E ; Bose, Rohit ; Leslie, Christina S ; Sawyers, Charles L

Nature (London), 2019-07, Vol.571 (7765), p.408-412 [Periódico revisado por pares]

England: Nature Publishing Group

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9
The central role of DNA damage in the ageing process
The central role of DNA damage in the ageing process
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The central role of DNA damage in the ageing process

Schumacher, Björn ; Pothof, Joris ; Vijg, Jan ; Hoeijmakers, Jan H J

Nature (London), 2021-04, Vol.592 (7856), p.695-703 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Evolutionary routes and KRAS dosage define pancreatic cancer phenotypes
Evolutionary routes and KRAS dosage define pancreatic cancer phenotypes
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Evolutionary routes and KRAS dosage define pancreatic cancer phenotypes

Mueller, Sebastian ; Engleitner, Thomas ; Maresch, Roman ; Zukowska, Magdalena ; Lange, Sebastian ; Kaltenbacher, Thorsten ; Konukiewitz, Björn ; Öllinger, Rupert ; Zwiebel, Maximilian ; Strong, Alex ; Yen, Hsi-Yu ; Banerjee, Ruby ; Louzada, Sandra ; Fu, Beiyuan ; Seidler, Barbara ; Götzfried, Juliana ; Schuck, Kathleen ; Hassan, Zonera ; Arbeiter, Andreas ; Schönhuber, Nina ; Klein, Sabine ; Veltkamp, Christian ; Friedrich, Mathias ; Rad, Lena ; Barenboim, Maxim ; Ziegenhain, Christoph ; Hess, Julia ; Dovey, Oliver M ; Eser, Stefan ; Parekh, Swati ; Constantino-Casas, Fernando ; de la Rosa, Jorge ; Sierra, Marta I ; Fraga, Mario ; Mayerle, Julia ; Klöppel, Günter ; Cadiñanos, Juan ; Liu, Pentao ; Vassiliou, George ; Weichert, Wilko ; Steiger, Katja ; Enard, Wolfgang ; Schmid, Roland M ; Yang, Fengtang ; Unger, Kristian ; Schneider, Günter ; Varela, Ignacio ; Bradley, Allan ; Saur, Dieter ; Rad, Roland

Nature (London), 2018-02, Vol.554 (7690), p.62-68 [Periódico revisado por pares]

England: Nature Publishing Group

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