학술논문
'학술논문'
에서 검색결과 38건 | 목록
30~40
Academic Journal
Merkle, Florian Tobias; Ghosh, Sulagna; Kamitaki, Nolan; Mitchell, Jana Marie; Avior, Yishai; Mello, Curtis Jay; Kashin, Seva; Mekhoubad, Shila; Ilic, Dusko; Sweetnam, Maura Charlton; Saphier Belfer, Genevieve C; Handsaker, Robert E; Genovese, Giulio; Bar, Shiran; Benvenisty, Nissim; McCarroll, Steven A.; Eggan, Kevin Carl
Quick submit: 2017-03-27T13:38:46-0400
Merkle, Florian T., Sulagna Ghosh, Nolan Kamitaki, Jana Mitchell, Yishai Avior, Curtis Mello, Seva Kashin, et al. 2017. “Human Pluripotent Stem Cells Recurrently Acquire and Expand Dominant Negative P53 Mutations.” Nature (April 26). doi:10.1038/nature22312.
Merkle, Florian T., Sulagna Ghosh, Nolan Kamitaki, Jana Mitchell, Yishai Avior, Curtis Mello, Seva Kashin, et al. 2017. “Human Pluripotent Stem Cells Recurrently Acquire and Expand Dominant Negative P53 Mutations.” Nature (April 26). doi:10.1038/nature22312.
Structural forms of the human amylase locus and their relationships to SNPs, haplotypes, and obesity
Academic Journal
Usher, Christina L; Handsaker, Robert E; Esko, Tõnu; Tuke, Marcus A; Weedon, Michael N; Hastie, Alex R; Cao, Han; Moon, Jennifer E; Kashin, Seva; Fuchsberger, Christian; Metspalu, Andres; Pato, Carlos N; Pato, Michele T; McCarthy, Mark I; Boehnke, Michael; Altshuler, David M; Frayling, Timothy M; Hirschhorn, Joel N; McCarroll, Steven A
Usher, C. L., R. E. Handsaker, T. Esko, M. A. Tuke, M. N. Weedon, A. R. Hastie, H. Cao, et al. 2016. “Structural forms of the human amylase locus and their relationships to SNPs, haplotypes, and obesity.” Nature genetics 47 (8): 921-925. doi:10.1038/ng.3340. http://dx.doi.org/10.1038/ng.3340.
Academic Journal
Francioli, Laurent C; Cretu-Stancu, Mircea; Garimella, Kiran V; Fromer, Menachem; Kloosterman, Wigard P; Wijmenga, Cisca; Investigator, Principal; Swertz, Morris A; van Duijn, Cornelia M; Boomsma, Dorret I; Slagboom, PEline; van Ommen, Gertjan B; de Bakker, Paul IW; van Dijk, Freerk; Menelaou, Androniki; Neerincx, Pieter BT; Pulit, Sara L; Deelen, Patrick; Elbers, Clara C; Francesco Palamara, Pier; Pe'er, Itsik; Abdellaoui, Abdel; van Oven, Mannis; Vermaat, Martijn; Li, Mingkun; Laros, Jeroen FJ; Stoneking, Mark; de Knijff, Peter; Kayser, Manfred; Veldink, Jan H; van den Berg, Leonard H; Byelas, Heorhiy; den Dunnen, Johan T; Dijkstra, Martijn; Amin, Najaf; van der Velde, K Joeri; Hottenga, Jouke Jan; van Setten, Jessica; van Leeuwen, Elisabeth M; Kanterakis, Alexandros; Kattenberg, Mathijs; Karssen, Lennart C; van Schaik, Barbera DC; Bot, Jan; Nijman, Isaäc J; Renkens, Ivo; van Enckevort, David; Mei, Hailiang; Koval, Vyacheslav; Estrada, Karol; Medina-Gomez, Carolina; Ye, Kai; Lameijer, Eric-Wubbo; Moed, Matthijs H; Hehir-Kwa, Jayne Y; Handsaker, Robert E; McCarroll, Steven A; Sunyaev, Shamil R; Polak, Paz; Vuzman, Dana; Sohail, Mashaal; Hormozdiari, Fereydoun; Marschall, Tobias; Schönhuth, Alexander; Guryev, Victor; Slagboom, P Eline; Beekman, Marian B; de Craen, Anton JM; Suchiman, H Eka D; Hofman, Albert; Oostra, Ben; Isaacs, Aaron; Rivadeneira, Fernando; Uitterlinden, André G; Willemsen, Gonneke; Platteel, Mathieu; Pitts, Steven J; Potluri, Shobha; Sundar, Purnima; Cox, David R; Li, Qibin; Li, Yingrui; Du, Yuanping; Chen, Ruoyan; Cao, Hongzhi; Li, Ning; Cao, Sujie; Wang, Jun; Bovenberg, Jasper A; Brandsma, Margreet; Samocha, Kaitlin E; Neale, Benjamin M; Daly, Mark J; Banks, Eric; DePristo, Mark A
Francioli, L. C., M. Cretu-Stancu, K. V. Garimella, M. Fromer, W. P. Kloosterman, C. Wijmenga, P. Investigator, et al. 2016. “A framework for the detection of de novo mutations in family-based sequencing data.” European Journal of Human Genetics 25 (2): 227-233. doi:10.1038/ejhg.2016.147. http://dx.doi.org/10.1038/ejhg.2016.147.
Academic Journal
Deelen, Patrick; Menelaou, Androniki; van Leeuwen, Elisabeth M; Kanterakis, Alexandros; van Dijk, Freerk; Medina-Gomez, Carolina; Francioli, Laurent C; Hottenga, Jouke Jan; Karssen, Lennart C; Estrada, Karol; Kreiner-Møller, Eskil; Rivadeneira, Fernando; van Setten, Jessica; Gutierrez-Achury, Javier; Westra, Harm-Jan; Franke, Lude; van Enckevort, David; Dijkstra, Martijn; Byelas, Heorhiy; van Duijn, Cornelia M; Swertz, Morris A; Neerincx, Pieter B T; Pulit, Sara L; Elbers, Clara C; Francesco Palamara, Pier; Pe'er, Itsik; Abdellaoui, Abdel; Kloosterman, Wigard P; van Oven, Mannis; Vermaat, Martijn; Li, Mingkun; Laros, Jeroen F J; Stoneking, Mark; de Knijff, Peter; Kayser, Manfred; Veldink, Jan H; van den Berg, Leonard H; den Dunnen, Johan T; Amin, Najaf; van der Velde, K Joeri; Jan Hottenga, Jouke; Kattenberg, Mathijs; van Schaik, Barbera D C; Bot, Jan; Nijman, Isaäuc J; Mei, Hailiang; Koval, Vyacheslav; Ye, Kai; Lameijer, Eric-Wubbo; Moed, Matthijs H; Hehir-Kwa, Jayne Y; Handsaker, Robert E; Sunyaev, Shamil R; Sohail, Mashaal; Hormozdiari, Fereydoun; Marschall, Tobias; Marschall, Schönhuth; Guryev, Victor; de Bakker, Paul I W; Slagboom, P Eline; Beekman, Marian B; de Craen, Anton J M; Suchiman, H Eka D; Hofman, Albert; van Duijn, Cornelia; Boomsma, Dorret I; Willemsen, Gonneke; Wolffenbuttel, Bruce H; Platteel, Mathieu; Pitts, Steven J; Potluri, Shobha; Cox, David R; Li, Qibin; Li, Yingrui; Du, Yuanping; Chen, Ruoyan; Cao, Hongzhi; Li, Ning; Cao, Sujie; Wang, Jun; Bovenberg, Jasper A; committee, Steering; Wijmenga, Cisca; van Ommen, Gertjan B
Deelen, P., A. Menelaou, E. M. van Leeuwen, A. Kanterakis, F. van Dijk, C. Medina-Gomez, L. C. Francioli, et al. 2014. “Improved imputation quality of low-frequency and rare variants in European samples using the ‘Genome of The Netherlands'.” European Journal of Human Genetics 22 (11): 1321-1326. doi:10.1038/ejhg.2014.19. http://dx.doi.org/10.1038/ejhg.2014.19.
Academic Journal
Kiskinis, Evangelos; Sandoe, Jackson L; Williams, Lauren N.; Boulting, Gabriella Lutz; Moccia, Robert; Wainger, Brian Jason; Han, Steve Sang-woo; Peng, Theodore; Thams, Sebastian; Mikkilineni, Shravani; Mellin, Cassidy; Merkle, Florian Tobias; Davis-Dusenbery, B; Ziller, Michael Johannes; Oakley, Derek Hayden; Ichida, Justin; Di Costanzo, Stefania; Atwater, Nick; Maeder, M; Goodwin, Marcus; Nemesh, James; Handsaker, Robert E; Paull, Daniel; Noggle, Scott; McCarroll, Steven A.; Joung, Jae Keith; Woolf, Carl; Brown, Robert H; Eggan, Kevin Carl
Quick submit: 2015-10-05T13:00:45-04:00
Kiskinis, Evangelos, Jackson Sandoe, Luis A. Williams, Gabriella L. Boulting, Rob Moccia, Brian J. Wainger, Steve Han, et al. 2014. “Pathways Disrupted in Human ALS Motor Neurons Identified through Genetic Correction of Mutant SOD1.” Cell Stem Cell 14 (6) (June): 781–795. doi:10.1016/j.stem.2014.03.004.
Kiskinis, Evangelos, Jackson Sandoe, Luis A. Williams, Gabriella L. Boulting, Rob Moccia, Brian J. Wainger, Steve Han, et al. 2014. “Pathways Disrupted in Human ALS Motor Neurons Identified through Genetic Correction of Mutant SOD1.” Cell Stem Cell 14 (6) (June): 781–795. doi:10.1016/j.stem.2014.03.004.
Academic Journal
Mills, Ryan Edward; Handsaker, Robert E; Korn, Joshua; Nemesh, James; Shi, Xinghua; Lee, Charles; McCarroll, Steven A.; Altshuler, David Matthew; Gabriel, Stacey B.; Lander, Eric Steven; Ambrogio, Lauren; Bloom, Toby; Cibulskis, Kristian; Fennell, Tim J.; Jaffe, David B.; Shefler, Erica; Sougnez, Carrie L.; Daly, Mark Joseph; DePristo, Mark A.; Ball, Aaron D.; Banks, Eric; Browning, Brian L.; Garimella, Kiran V.; Grossman, Sharon Rachel; Hanna, Matt; Hartl, Chris; Kernytsky, Andrew M.; Li, Heng; Maguire, Jared R.; McKenna, Aaron; Philippakis, Anthony Andrew; Poplin, Ryan E.; Price, Alkes; Rivas, Manuel A.; Sabeti, Pardis Christine; Schaffner, Stephen; Shlyakhter, Ilya; Wilkinson, Jane
Mills, Ryan E., Robert E. Handsaker, Joshua Korn, James Nemesh, Xinghua Shi, Charles Lee, Steven A. McCarroll et al. 2011. Mapping copy number variation by population scale genome sequencing. Nature 470(7332): 59-65.
Academic Journal
Altshuler, David Matthew; Lander, Eric Steven; Ambrogio, Lauren; Bloom, Toby; Cibulskis, Kristian; Fennell, Tim J.; Gabriel, Stacey B.; Jaffe, David B.; Shefler, Erica; Sougnez, Carrie L.; Lee, Charles; Mills, Ryan Edward; Shi, Xinghua; Daly, Mark Joseph; DePristo, Mark A.; Ball, Aaron D.; Banks, Eric; Browning, Brian L.; Garimella, Kiran V.; Grossman, Sharon Rachel; Handsaker, Robert E; Hanna, Matt; Hartl, Chris; Kernytsky, Andrew M.; Korn, Joshua M.; Li, Heng; Maguire, Jared R.; McCarroll, Steven A.; Nemesh, James C.; McKenna, Aaron; Philippakis, Anthony Andrew; Poplin, Ryan E.; Price, Alkes; Rivas, Manuel A.; Sabeti, Pardis Christine; Schaffner, Stephen; Shlyakhter, Ilya
Durbin, Richard M., David Altshuler, Gonçalo R. Abecasis, David R. Bentley, Aravinda Chakravarti, Andrew G. Clark, Francis S. Collins et al. 2010. A map of human genome variation from population-scale sequencing. Nature 467(7319): 1061-1073.
Academic Journal
Li, Heng; Wysoker, Alec; Fennell, Tim; Ruan, Jue; Homer, Nils; Marth, Gabor; Abecasis, Goncalo; Durbin, Richard; Handsaker, Robert E
Li, Heng, Bob Handsaker, Alec Wysoker, Tim Fennell, Jue Ruan, Nils Homer, Gabor Marth, Goncalo Abecasis, Richard Durbin, and 1000 Genome Project Data Processing Subgroup. 2009. The Sequence Alignment/Map format and SAMtools. Bioinformatics 25(16): 2078-2079.
검색 결과 제한하기
제한된 항목
[AR] Handsaker, Robert E
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어