Pesquisa | Biblioteca Virtual em Saúde

1.

Mapping and characterization of structural variation in 17,795 human genomes.

Abel, Haley J; Larson, David E; Regier, Allison A; Chiang, Colby; Das, Indraniel; Kanchi, Krishna L; Layer, Ryan M; Neale, Benjamin M; Salerno, William J; Reeves, Catherine; Buyske, Steven; Matise, Tara C; Muzny, Donna M; Zody, Michael C; Lander, Eric S; Dutcher, Susan K; Stitziel, Nathan O; Hall, Ira M.

Nature; 583(7814): 83-89, 2020 07.

Inglês | MEDLINE | ID: mdl-32460305

2.

Targeting renal cell carcinoma with a HIF-2 antagonist.

Chen, Wenfang; Hill, Haley; Christie, Alana; Kim, Min Soo; Holloman, Eboni; Pavia-Jimenez, Andrea; Homayoun, Farrah; Ma, Yuanqing; Patel, Nirav; Yell, Paul; Hao, Guiyang; Yousuf, Qurratulain; Joyce, Allison; Pedrosa, Ivan; Geiger, Heather; Zhang, He; Chang, Jenny; Gardner, Kevin H; Bruick, Richard K; Reeves, Catherine; Hwang, Tae Hyun; Courtney, Kevin; Frenkel, Eugene; Sun, Xiankai; Zojwalla, Naseem; Wong, Tai; Rizzi, James P; Wallace, Eli M; Josey, John A; Xie, Yang; Xie, Xian-Jin; Kapur, Payal; McKay, Renée M; Brugarolas, James.

Nature; 539(7627): 112-117, 2016 11 03.

Inglês | MEDLINE | ID: mdl-27595394

3.

Detection of long repeat expansions from PCR-free whole-genome sequence data.

Dolzhenko, Egor; van Vugt, Joke J F A; Shaw, Richard J; Bekritsky, Mitchell A; van Blitterswijk, Marka; Narzisi, Giuseppe; Ajay, Subramanian S; Rajan, Vani; Lajoie, Bryan R; Johnson, Nathan H; Kingsbury, Zoya; Humphray, Sean J; Schellevis, Raymond D; Brands, William J; Baker, Matt; Rademakers, Rosa; Kooyman, Maarten; Tazelaar, Gijs H P; van Es, Michael A; McLaughlin, Russell; Sproviero, William; Shatunov, Aleksey; Jones, Ashley; Al Khleifat, Ahmad; Pittman, Alan; Morgan, Sarah; Hardiman, Orla; Al-Chalabi, Ammar; Shaw, Chris; Smith, Bradley; Neo, Edmund J; Morrison, Karen; Shaw, Pamela J; Reeves, Catherine; Winterkorn, Lara; Wexler, Nancy S; Housman, David E; Ng, Christopher W; Li, Alina L; Taft, Ryan J; van den Berg, Leonard H; Bentley, David R; Veldink, Jan H; Eberle, Michael A.

Genome Res; 27(11): 1895-1903, 2017 11.

Inglês | MEDLINE | ID: mdl-28887402

4.

Part 1: Evidence-based facility design using Transforming Care at the Bedside principles.

Devine, Deborah A; Wenger, Barb; Krugman, Mary; Zwink, Jennifer E; Shiskowsky, Kaycee; Hagman, Jan; Limon, Shelly; Sanders, Carolyn; Reeves, Catherine.

J Nurs Adm; 45(2): 74-83, 2015 Feb.

Inglês | MEDLINE | ID: mdl-25621749

5.

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.

Wang, Ying; Busin, Rachel; Reeves, Catherine; Bezman, Lena; Raymond, Gerald; Toomer, Cicely J; Watkins, Paul A; Snowden, Ann; Moser, Ann; Naidu, Sakkubai; Bibat, Genila; Hewson, Stacy; Tam, Karen; Clarke, Joe T R; Charnas, Lawrence; Stetten, Gail; Karczeski, Barbara; Cutting, Garry; Steinberg, Steven.

Mol Genet Metab; 104(1-2): 160-6, 2011.

Inglês | MEDLINE | ID: mdl-21700483

6.

Lung Function in African American Children with Asthma Is Associated with Novel Regulatory Variants of the KIT Ligand KITLG/SCF and Gene-By-Air-Pollution Interaction.

Mak, Angel C Y; Sajuthi, Satria; Joo, Jaehyun; Xiao, Shujie; Sleiman, Patrick M; White, Marquitta J; Lee, Eunice Y; Saef, Benjamin; Hu, Donglei; Gui, Hongsheng; Keys, Kevin L; Lurmann, Fred; Jain, Deepti; Abecasis, Gonçalo; Kang, Hyun Min; Nickerson, Deborah A; Germer, Soren; Zody, Michael C; Winterkorn, Lara; Reeves, Catherine; Huntsman, Scott; Eng, Celeste; Salazar, Sandra; Oh, Sam S; Gilliland, Frank D; Chen, Zhanghua; Kumar, Rajesh; Martínez, Fernando D; Wu, Ann Chen; Ziv, Elad; Hakonarson, Hakon; Himes, Blanca E; Williams, L Keoki; Seibold, Max A; Burchard, Esteban G.

Genetics; 215(3): 869-886, 2020 Jul.

Inglês | MEDLINE | ID: mdl-32327564

7.

Author Correction: PGBD5 promotes site-specific oncogenic mutations in human tumors.

Henssen, Anton G; Koche, Richard; Zhuang, Jiali; Jiang, Eileen; Reed, Casie; Eisenberg, Amy; Still, Eric; MacArthur, Ian C; Rodríguez-Fos, Elias; Gonzalez, Santiago; Puiggròs, Montserrat; Blackford, Andrew N; Mason, Christopher E; de Stanchina, Elisa; Gönen, Mithat; Emde, Anne-Katrin; Shah, Minita; Arora, Kanika; Reeves, Catherine; Socci, Nicholas D; Perlman, Elizabeth; Antonescu, Cristina R; Roberts, Charles W M; Steen, Hanno; Mullen, Elizabeth; Jackson, Stephen P; Torrents, David; Weng, Zhiping; Armstrong, Scott A; Kentsis, Alex.

Nat Genet; 52(11): 1265, 2020 Nov.

Inglês | MEDLINE | ID: mdl-32918070

8.

Correction to: Sequencing and curation strategies for identifying candidate glioblastoma treatments.

Frank, Mayu O; Koyama, Takahiko; Rhrissorrakrai, Kahn; Robine, Nicolas; Utro, Filippo; Emde, Anne-Katrin; Chen, Bo-Juen; Arora, Kanika; Shah, Minita; Geiger, Heather; Felice, Vanessa; Dikoglu, Esra; Rahman, Sadia; Fang, Xiaolan; Vacic, Vladimir; Bergmann, Ewa A; Moore Vogel, Julia L; Reeves, Catherine; Khaira, Depinder; Calabro, Anthony; Kim, Duyang; Lamendola-Essel, Michelle F; Esteves, Cecilia; Agius, Phaedra; Stolte, Christian; Boockvar, John; Demopoulos, Alexis; Placantonakis, Dimitris G; Golfinos, John G; Brennan, Cameron; Bruce, Jeffrey; Lassman, Andrew B; Canoll, Peter; Grommes, Christian; Daras, Mariza; Diamond, Eli; Omuro, Antonio; Pentsova, Elena; Orange, Dana E; Harvey, Stephen J; Posner, Jerome B; Michelini, Vanessa V; Jobanputra, Vaidehi; Zody, Michael C; Kelly, John; Parida, Laxmi; Wrzeszczynski, Kazimierz O; Royyuru, Ajay K; Darnell, Robert B.

BMC Med Genomics; 12(1): 114, 2019 Aug 02.

Inglês | MEDLINE | ID: mdl-31375115

9.

Sequencing and curation strategies for identifying candidate glioblastoma treatments.

Frank, Mayu O; Koyama, Takahiko; Rhrissorrakrai, Kahn; Robine, Nicolas; Utro, Filippo; Emde, Anne-Katrin; Chen, Bo-Juen; Arora, Kanika; Shah, Minita; Geiger, Heather; Felice, Vanessa; Dikoglu, Esra; Rahman, Sadia; Fang, Alice; Vacic, Vladimir; Bergmann, Ewa A; Vogel, Julia L Moore; Reeves, Catherine; Khaira, Depinder; Calabro, Anthony; Kim, Duyang; Lamendola-Essel, Michelle F; Esteves, Cecilia; Agius, Phaedra; Stolte, Christian; Boockvar, John; Demopoulos, Alexis; Placantonakis, Dimitris G; Golfinos, John G; Brennan, Cameron; Bruce, Jeffrey; Lassman, Andrew B; Canoll, Peter; Grommes, Christian; Daras, Mariza; Diamond, Eli; Omuro, Antonio; Pentsova, Elena; Orange, Dana E; Harvey, Stephen J; Posner, Jerome B; Michelini, Vanessa V; Jobanputra, Vaidehi; Zody, Michael C; Kelly, John; Parida, Laxmi; Wrzeszczynski, Kazimierz O; Royyuru, Ajay K; Darnell, Robert B.

BMC Med Genomics; 12(1): 56, 2019 04 25.

Inglês | MEDLINE | ID: mdl-31023376

10.

PGBD5 promotes site-specific oncogenic mutations in human tumors.

Henssen, Anton G; Koche, Richard; Zhuang, Jiali; Jiang, Eileen; Reed, Casie; Eisenberg, Amy; Still, Eric; MacArthur, Ian C; Rodríguez-Fos, Elias; Gonzalez, Santiago; Puiggròs, Montserrat; Blackford, Andrew N; Mason, Christopher E; de Stanchina, Elisa; Gönen, Mithat; Emde, Anne-Katrin; Shah, Minita; Arora, Kanika; Reeves, Catherine; Socci, Nicholas D; Perlman, Elizabeth; Antonescu, Cristina R; Roberts, Charles W M; Steen, Hanno; Mullen, Elizabeth; Jackson, Stephen P; Torrents, David; Weng, Zhiping; Armstrong, Scott A; Kentsis, Alex.

Nat Genet; 49(7): 1005-1014, 2017 Jul.

Inglês | MEDLINE | ID: mdl-28504702

11.

Erratum: PGBD5 promotes site-specific oncogenic mutations in human tumors.

Henssen, Anton G; Koche, Richard; Zhuang, Jiali; Jiang, Eileen; Reed, Casie; Eisenberg, Amy; Still, Eric; MacArthur, Ian C; Rodríguez-Fos, Elias; Gonzalez, Santiago; Puiggròs, Montserrat; Blackford, Andrew N; Mason, Christopher E; de Stanchina, Elisa; Gönen, Mithat; Emde, Anne-Katrin; Shah, Minita; Arora, Kanika; Reeves, Catherine; Socci, Nicholas D; Perlman, Elizabeth; Antonescu, Cristina R; Roberts, Charles W M; Steen, Hanno; Mullen, Elizabeth; Jackson, Stephen P; Torrents, David; Weng, Zhiping; Armstrong, Scott A; Kentsis, Alex.

Nat Genet; 49(10): 1558, 2017 09 27.

Inglês | MEDLINE | ID: mdl-28951624

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