未登录 Upregulation of a CI-TR mRNA isoform has therapeutic potential for the treatment of 3′ CI-TR PTC variants 上调一种CI-TR mRNA剪接异构体对治疗3′端CI-TR移码突变体具有治疗潜力 Allaire, Normand E.; Armstrong, Matthew S.; Yoon, Jae Seok; Walker, Mercy C.; Bhatt, Priyanka; Harrington, Jan M.; Cheng, Yi; Wong, Eric I.; Mahoney, John E.; Valley, Hillary C.; Macadino, Caitlin M.; Bihler, Hermann J.; Sivachenko, Andrey Y.; Cotton, Calvin U.; Carulli, John P.; Mense, Martin 分享 收藏
In vitro modulator responsiveness of 655 CFTR variants found in people with cystic fibrosis Bihler, Hermann; Sivachenko, Andrey; Millen, Linda; Bhatt, Priyanka; Patel, Amita Thakerar; Chin, Justin; Bailey, Violaine; Musisi, Isaac; LaPan, Andre; Allaire, Normand E.; Conte, Joshua; Simon, Noah R.; Magaret, Amalia S.; Raraigh, Karen S.; Cutting, Garry R.; Skach, William R.; Bridges, Robert J.; Thomas, Philip J.; Mense, Martin 分享 收藏
Isogenic cell models of cystic fibrosis-causing variants in natively expressing pulmonary epithelial cells Valley, Hillary C.; Bukis, Katherine M.; Bell, Alisa; Cheng, Yi; Wong, Eric; Jordan, Nikole J.; Allaire, Normand E.; Sivachenko, Andrey; Liang, Feng; Bihler, Hermann; Thomas, Philip J.; Mahiou, Jerome; Mense, Martin 分享 收藏
Complementary genomic approaches highlight the PI3K/mTOR pathway as a common vulnerability in osteosarcoma 互补的基因组方法强调PI3K/mTOR途径是骨肉瘤的常见脆弱性 Perry, Jennifer A.; Kiezun, Adam; Tonzi, Peter; Van Allen, Eliezer M.; Carter, Scott L.; Baca, Sylvan C.; Cowley, Glenn S.; Bhatt, Ami S.; Rheinbay, Esther; Pedamallu, Chandra Sekhar; Helman, Elena; Taylor-Weiner, Amaro; McKenna, Aaron; DeLuca, David S.; Lawrence, Michael S.; Ambrogio, Lauren; Sougnez, Carrie; Sivachenko, Andrey; Walensky, Loren D.; Wagle, Nikhil; Mora, Jaume; de Torres, Carmen; Lavarino, Cinzia; Aguiar, Simone Dos Santos; Yunes, Jose Andres; Brandalise, Silvia Regina; Mercado-Celis, Gabriela Elisa; Melendez-Zajgla, Jorge; Cardenas-Cardos, Roco; Velasco-Hidalgo, Liliana; Roberts, Charles W. M.; Garraway, Levi A.; Rodriguez-Galindo, Carlos; Gabriel, Stacey B.; Lander, Eric S.; Golub, Todd R.; Orkin, Stuart H.; Getz, Gad; Janeway, Katherine A. 分享 收藏
The Genomic Landscape of Pediatric Ewing Sarcoma Crompton, Brian D.; Stewart, Chip; Taylor-Weiner, Amaro; Alexe, Gabriela; Kurek, Kyle C.; Calicchio, Monica L.; Kiezun, Adam; Carter, Scott L.; Shukla, Sachet A.; Mehta, Swapnil S.; Thorner, Aaron R.; de Torres, Carmen; Lavarino, Cinzia; Sunol, Mariona; McKenna, Aaron; Sivachenko, Andrey; Cibulskis, Kristian; Lawrence, Michael S.; Stojanov, Petar; Rosenberg, Mara; Ambrogio, Lauren; Auclair, Daniel; Seepo, Sara; Blumenstiel, Brendan; DeFelice, Matthew; Imaz-Rosshandler, Ivan; Schwarz-Cruz y Celis, Angela; Rivera, Miguel N.; Rodriguez-Galindo, Carlos; Fleming, Mark D.; Golub, Todd R.; Getz, Gad; Mora, Jaume; Stegmaier, Kimberly 分享 收藏
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The genomic landscape of pediatric Ewing sarcoma Crompton, Brian; Stewart, Chip; Taylor-Weiner, Amaro; Alexa, Gabriela; Kurek, Kyle; Calicchio, Monica; Kiezun, Adam; Carter, Scott; Shukla, Sachet; Mehta, Swapnil; Thorner, Aaron; De Torres, Carmen; Lavarino, Cinzia; Sunol, Mariona; McKenna, Aaron; Sivachenko, Andrey; Cibulskis, Kristian; Lawrence, Michael; Ambrogio, Lauren; Auclair, Daniel; Rosshandler, Ivan; Celis, Angela Schwarz-Cruz Y.; Rivera, Miguel; Rodriguez-Galindo, Carlos; Fleming, Mark; Golub, Todd; Getz, Gad; Mora, Jaume; Stegmaier, Kimberly 分享 收藏
Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine 福尔马林固定石蜡包埋肿瘤标本全外显子组测序及临床解读指导精准肿瘤医学 Van Allen, Eliezer M.; Wagle, Nikhil; Stojanov, Petar; Perrin, Danielle L.; Cibulskis, Kristian; Marlow, Sara; Jane-Valbuena, Judit; Friedrich, Dennis C.; Kryukov, Gregory; Carter, Scott L.; McKenna, Aaron; Sivachenko, Andrey; Rosenberg, Mara; Kiezun, Adam; Voet, Douglas; Lawrence, Michael; Lichtenstein, Lee T.; Gentry, Jeff G.; Huang, Franklin W.; Fostel, Jennifer; Farlow, Deborah; Barbie, David; Gandhi, Leena; Lander, Eric S.; Gray, Stacy W.; Joffe, Steven; Janne, Pasi; Garber, Judy; MacConaill, Laura; Lindeman, Neal; Rollins, Barrett; Kantoff, Philip; Fisher, Sheila A.; Gabriel, Stacey; Getz, Gad; Garraway, Levi A. 分享 收藏
Comparative analysis of RNA sequencing methods for degraded or low-input samples (vol 10, pg 623, 2013) Adiconis, Xian; Borges-Rivera, Diego; Satija, Rahul; DeLuca, David S.; Busby, Michele A.; Berlin, Aaron M.; Sivachenko, Andrey; Thompson, Dawn Anne; Wysoker, Alec; Fennell, Timothy; Gnirke, Andreas; Pochet, Nathalie; Regev, Aviv; Levin, Joshua Z. 分享 收藏
Inhibitor-Sensitive FGFR2 and FGFR3 Mutations in Lung Squamous Cell Carcinoma Liao, Rachel G.; Jung, Joonil; Tchaicha, Jeremy; Wilkerson, Matthew D.; Sivachenko, Andrey; Beauchamp, Ellen M.; Liu, Qingsong; Pugh, Trevor J.; Pedamallu, Chandra Sekhar; Hayes, D. Neil; Gray, Nathanael S.; Getz, Gad; Wong, Kwok-Kin; Haddad, Robert I.; Meyerson, Matthew; Hammerman, Peter S. 分享 收藏
Comparative analysis of RNA sequencing methods for degraded or low-input samples Adiconis, Xian; Borges-Rivera, Diego; Satija, Rahul; DeLuca, David S.; Busby, Michele A.; Berlin, Aaron M.; Sivachenko, Andrey; Thompson, Dawn Anne; Wysoker, Alec; Fennell, Timothy; Gnirke, Andreas; Pochet, Nathalie; Regev, Aviv; Levin, Joshua Z. 分享 收藏
Dissecting the clonal hierarchy of cancer-driving genomic lesions Prandi, Davide; Baca, Sylvan C.; Lawrence, Michael S.; Mosquera, Juan Miguel; Romanel, Alessandro; Drier, Yotam; Park, Kyung; Kitabayashi, Naoki; MacDonald, Theresa Y.; Van Allen, Eliezer; Kryukov, Gregory V.; Theurillat, Jean-Philippe; Soong, T. David; Nickerson, Elizabeth; Auclair, Daniel; Tewari, Ashutosh; Beltran, Himisha; Onofrio, Robert C.; Boysen, Gunther; Guiducci, Candace; Barbieri, Christopher E.; Cibulskis, Kristian; Sivachenko, Andrey; Carter, Scott L.; Saksena, Gordon; Voet, Douglas; Ramos, Alex H.; Winckler, Wendy; Cipicchio, Michelle; Ardlie, Kristin; Kantoff, Philip W.; Berger, Michael F.; Gabriel, Stacey B.; Golub, Todd R.; Meyerson, Matthew; Lander, Eric S.; Elemento, Olivier; Getz, Gad; Demichelis, Francesca; Rubin, Mark A.; Garraway, Levi A. 分享 收藏
Punctuated evolution of prostate cancer genomes Baca, Sylvan C.; Prandi, Davide; Lawrence, Michael S.; Mosquera, Juan Miguel; Romanei, Alessandro; Drier, Yotam; Park, Kyung; Kitabayashi, Naoki; MacDonald, Theresa Y.; Van Allen, Eliezer; Kryukov, Gregory V.; Theurillat, Jean-Philippe; Soong, T. David; Nickerson, Elizabeth; Auclair, Daniel; Tewari, Ashutosh; Beltran, Himisha; Onofrio, Robert C.; Boysen, Gunther; Guiducci, Candace; Barbieri, Christopher E.; Cibulskis, Kristian; Sivachenko, Andrey; Carter, Scott L.; Voet, Douglas; Saksena, Gordon; Cipicchio, Michelle R.; Ardlie, Kristin; Kantoff, Philip W.; Berger, Michael F.; Gabriel, Stacey B.; Golub, Todd R.; Meyerson, Matthew; Lander, Eric S.; Elemento, Olivier; Getz, Gad; Demichelis, Francesca; Rubin, Mark A.; Garraway, Levi A. 分享 收藏
Analysis of formalin-fixed paraffin-embedded (FFPE) samples. Stojenov, Petar; Carter, Scott L.; Rosshandler, Ivan Imaz; Sivachenko, Andrey; Guadarrama, Alberto Salido; Vazquez, Karie; Cordoba, Sandra Romero; Cibulskis, Kristian; Sougnez, Carrie; Voet, Douglas; Saksena, Gordon; Lichtenstein, Lee; Zou, Lihua; Frazer, Scott; Stewart, Chip; Beroukhim, Rameen; Meyerson, Matthew; Lawrence, Michael S.; Getz, Gad 分享 收藏
Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity Dulak, Austin M.; Stojanov, Petar; Peng, Shouyong; Lawrence, Michael S.; Fox, Cameron; Stewart, Chip; Bandla, Santhoshi; Imamura, Yu; Schumacher, Steven E.; Shefler, Erica; McKenna, Aaron; Carter, Scott L.; Cibulskis, Kristian; Sivachenko, Andrey; Saksena, Gordon; Voet, Douglas; Ramos, Alex H.; Auclair, Daniel; Thompson, Kristin; Sougnez, Carrie; Onofrio, Robert C.; Guiducci, Candace; Beroukhim, Rameen; Zhou, Zhongren; Lin, Lin; Lin, Jules; Reddy, Rishindra; Chang, Andrew; Landrenau, Rodney; Pennathur, Arjun; Ogino, Shuji; Luketich, James D.; Golub, Todd R.; Gabriel, Stacey B.; Lander, Eric S.; Beer, David G.; Godfrey, Tony E.; Getz, Gad; Bass, Adam J. 分享 收藏
Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples 不纯和异质癌症样品中体细胞点突变的灵敏检测 Cibulskis, Kristian; Lawrence, Michael S.; Carter, Scott L.; Sivachenko, Andrey; Jaffe, David; Sougnez, Carrie; Gabriel, Stacey; Meyerson, Matthew; Lander, Eric S.; Getz, Gad 分享 收藏
Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer 外显子组测序鉴定前列腺癌中复发性SPOP，FOXA1和MED12突变 Barbieri, Christopher E.; Baca, Sylvan C.; Lawrence, Michael S.; Demichelis, Francesca; Blattner, Mirjam; Theurillat, Jean-Philippe; White, Thomas A.; Stojanov, Petar; Van Allen, Eliezer; Stransky, Nicolas; Nickerson, Elizabeth; Chae, Sung-Suk; Boysen, Gunther; Auclair, Daniel; Onofrio, Robert C.; Park, Kyung; Kitabayashi, Naoki; MacDonald, Theresa Y.; Sheikh, Karen; Vuong, Terry; Guiducci, Candace; Cibulskis, Kristian; Sivachenko, Andrey; Carter, Scott L.; Saksena, Gordon; Voet, Douglas; Hussain, Wasay M.; Ramos, Alex H.; Winckler, Wendy; Redman, Michelle C.; Ardlie, Kristin; Tewari, Ashutosh K.; Mosquera, Juan Miguel; Rupp, Niels; Wild, Peter J.; Moch, Holger; Morrissey, Colm; Nelson, Peter S.; Kantoff, Philip W.; Gabriel, Stacey B.; Golub, Todd R.; Meyerson, Matthew; Lander, Eric S.; Getz, Gad; Rubin, Mark A.; Garraway, Levi A. 分享 收藏
Uncovering signals of somatic selection through whole exome and whole genome sequencing of lung adenocarcinoma Imielinski, Marcin; Hernandez, Bryan; Lawrence, Michael; Hodis, Eran; Kryukov, Grigoriy; Stojanov, Petar; Siyachenko, Andrey; Cibulskis, Kristian; Sougnez, Carrie; Auclair, Daniel; Ardlie, Kristin; Banerji, Shantanu; Hammerman, Peter; Thomas, Roman K.; Gabriel, Stacey; Lander, Eric; Getz, Gad; Meyerson, Matthew 分享 收藏
A glimpse into the somatic mutation landscape of melanoma through exome sequencing of 121 tumor-normal pairs Hodis, Eran; Watson, Ian; Theurillats, Jean-Philippe; Zou, Lihua; Place, Chelsea; Nickerson, Elizabeth; Auclair, Daniel; Cibulskis, Kristian; Sivachenko, Andrey; Kryukov, Gregory; Stransky, Nicolas; Ramos, Alex H.; Voet, Douglas; Lawrence, Michael S.; Stojanov, Petar; Saksena, Gordon; McKenna, Aaron; Carter, Scott L.; Pugh, Trevor; Noble, Michael; Lin, Pei; Lichtenstein, Lee; Ambrogio, Lauren; Fennell, Timothy; Chong, Kelly; Winckler, Wendy; Ardlie, Kristin; Landers, Eric S.; Golub, Todd; Meyerson, Matthew; Gabrie, Stacey B.; Getz, Gad; Wagner, Stefan; Schadendorf, Dirk; Hoon, Dave S. B.; Chin, Lynda; Garraway, Levi A. 分享 收藏
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