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1
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage
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Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage

Komor, Alexis C ; Kim, Yongjoo B ; Packer, Michael S ; Zuris, John A ; Liu, David R

Nature (London), 2016-05, Vol.533 (7603), p.420-424 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Analyses of non-coding somatic drivers in 2,658 cancer whole genomes
Analyses of non-coding somatic drivers in 2,658 cancer whole genomes
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Analyses of non-coding somatic drivers in 2,658 cancer whole genomes

Rheinbay, 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, Gad

Nature (London), 2020-02, Vol.578 (7793), p.102-111 [Periódico revisado por pares]

England: Nature Publishing Group

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3
The clonal and mutational evolution spectrum of primary triple―negative breast cancers
The clonal and mutational evolution spectrum of primary triple―negative breast cancers
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The clonal and mutational evolution spectrum of primary triple―negative breast cancers

SHAH, 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, Gholamreza

Nature (London), 2012-06, Vol.486 (7403), p.395-399 [Periódico revisado por pares]

London: Nature Publishing Group

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4
A pan-cancer analysis of synonymous mutations
A pan-cancer analysis of synonymous mutations
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A pan-cancer analysis of synonymous mutations

Sharma, Yogita ; Miladi, Milad ; Dukare, Sandeep ; Boulay, Karine ; Caudron-Herger, Maiwen ; Groß, Matthias ; Backofen, Rolf ; Diederichs, Sven

Nature communications, 2019-06, Vol.10 (1), p.2569-2569, Article 2569 [Periódico revisado por pares]

England: Nature Publishing Group

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5
ALS Genetics: Gains, Losses, and Implications for Future Therapies
ALS Genetics: Gains, Losses, and Implications for Future Therapies
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ALS Genetics: Gains, Losses, and Implications for Future Therapies

Kim, Garam ; Gautier, Olivia ; Tassoni-Tsuchida, Eduardo ; Ma, X. Rosa ; Gitler, Aaron D.

Neuron (Cambridge, Mass.), 2020-12, Vol.108 (5), p.822-842 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Evaluating drug targets through human loss-of-function genetic variation
Evaluating drug targets through human loss-of-function genetic variation
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Evaluating drug targets through human loss-of-function genetic variation

Minikel, 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 G

Nature (London), 2020-05, Vol.581 (7809), p.459-464 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations
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Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations

Janeway, Katherine A ; Kim, Su Young ; Lodish, Maya ; Nosé, Vânia ; Rustin, Pierre ; Gaal, José ; Dahia, Patricia L.M ; Liegl, Bernadette ; Ball, Evan R ; Raygada, Margarita ; Lai, Angela H ; Kelly, Lorna ; Hornick, Jason L ; O'Sullivan, Maureen ; de Krijger, Ronald R ; Dinjens, Winand N.M ; Demetri, George D ; Antonescu, Cristina R ; Fletcher, Jonathan A ; Helman, Lee ; Stratakis, Constantine A

Proceedings of the National Academy of Sciences - PNAS, 2011-01, Vol.108 (1), p.314-318 [Periódico revisado por pares]

United States: National Academy of Sciences

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8
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis
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Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

Nesin, Vasyl ; Wiley, Graham ; Kousi, Maria ; Ong, E-Ching ; Lehmann, Thomas ; Nicholl, David J. ; Suri, Mohnish ; Shahrizaila, Nortina ; Katsanis, Nicholas ; Gaffney, Patrick M. ; Wierenga, Klaas J. ; Tsiokas, Leonidas

Proceedings of the National Academy of Sciences - PNAS, 2014-03, Vol.111 (11), p.4197-4202 [Periódico revisado por pares]

United States: National Academy of Sciences

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9
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency
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Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency

Kozyra, Emilia J ; Pastor, Victor B ; Lefkopoulos, Stylianos ; Sahoo, Sushree S ; Busch, Hauke ; Voss, Rebecca K ; Erlacher, Miriam ; Lebrecht, Dirk ; Szvetnik, Enikoe A ; Hirabayashi, Shinsuke ; Pasaulienė, Ramunė ; Pedace, Lucia ; Tartaglia, Marco ; Klemann, Christian ; Metzger, Patrick ; Boerries, Melanie ; Catala, Albert ; Hasle, Henrik ; de Haas, Valerie ; Kállay, Krisztián ; Masetti, Riccardo ; De Moerloose, Barbara ; Dworzak, Michael ; Schmugge, Markus ; Smith, Owen ; Starý, Jan ; Mejstrikova, Ester ; Ussowicz, Marek ; Morris, Emma ; Singh, Preeti ; Collin, Matthew ; Derecka, Marta ; Göhring, Gudrun ; Flotho, Christian ; Strahm, Brigitte ; Locatelli, Franco ; Niemeyer, Charlotte M ; Trompouki, Eirini ; Wlodarski, Marcin W

Leukemia, 2020-10, Vol.34 (10), p.2673-2687 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Novel somatic and germline mutations in intracranial germ cell tumours
Novel somatic and germline mutations in intracranial germ cell tumours
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Novel somatic and germline mutations in intracranial germ cell tumours

Wang, Linghua ; Yamaguchi, Shigeru ; Burstein, Matthew D ; Terashima, Keita ; Chang, Kyle ; Ng, Ho-Keung ; Nakamura, Hideo ; He, Zongxiao ; Doddapaneni, Harshavardhan ; Lewis, Lora ; Wang, Mark ; Suzuki, Tomonari ; Nishikawa, Ryo ; Natsume, Atsushi ; Terasaka, Shunsuke ; Dauser, Robert ; Whitehead, William ; Adekunle, Adesina ; Sun, Jiayi ; Qiao, Yi ; Marth, Gábor ; Muzny, Donna M ; Gibbs, Richard A ; Leal, Suzanne M ; Wheeler, David A ; Lau, Ching C

Nature (London), 2014-07, Vol.511 (7508), p.241-245 [Periódico revisado por pares]

England: Nature Publishing Group

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