학술논문
'학술논문'
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1~10
Academic Journal
Amarasekera, Sumudu S C; Hock, Daniella H; Lake, Nicole J; Calvo, Sarah E; Grønborg, Sabine W; Krzesinski, Emma I; Amor, David J; Fahey, Michael C; Simons, Cas; Wibrand, Flemming; Mootha, Vamsi K; Lek, Monkol; Lunke, Sebastian; Stark, Zornitza; Østergaard, Elsebet; Christodoulou, John; Thorburn, David R; Stroud, David A; Compton, Alison G
Human Molecular Genetics; Aug2023, Vol. 32 Issue 15, p2441-2454, 14p
Academic Journal
Hildick-Smith, Gordon J; Cooney, Jeffrey D; Garone, Caterina; Kremer, Laura S; Haack, Tobias B; Thon, Jonathan N; Miyata, Non; Lieber, Daniel S; Calvo, Sarah E; Akman, H Orhan; Yien, Yvette Y; Huston, Nicholas C; Branco, Diana S; Shah, Dhvanit I; Freedman, Matthew L; Koehler, Carla M; Italiano, Joseph E; Merkenschlager, Andreas; Beblo, Skadi; Strom, Tim M; Meitinger, Thomas; Freisinger, Peter; Donati, M Alice; Prokisch, Holger; Mootha, Vamsi K; DiMauro, Salvatore; Paw, Barry H
American Journal of Human Genetics. 93(5)
Academic Journal
Kornblum, Cornelia; Nicholls, Thomas J; Haack, Tobias B; Schöler, Susanne; Peeva, Viktoriya; Danhauser, Katharina; Hallmann, Kerstin; Zsurka, Gábor; Rorbach, Joanna; Iuso, Arcangela; Wieland, Thomas; Sciacco, Monica; Ronchi, Dario; Comi, Giacomo P; Moggio, Maurizio; Quinzii, Catarina M; DiMauro, Salvatore; Calvo, Sarah E; Mootha, Vamsi K; Klopstock, Thomas
Academic Journal
Garone, Caterina; D’Souza, Aaron R; Dallabona, Cristina; Lodi, Tiziana; Rebelo-Guiomar, Pedro; Rorbach, Joanna; Donati, Maria Alice; Procopio, Elena; Montomoli, Martino; Guerrini, Renzo; Zeviani, Massimo; Calvo, Sarah E; Mootha, Vamsi K; DiMauro, Salvatore; Ferrero, Ileana; Minczuk, Michal
Human Molecular Genetics. Nov 01, 2017 26(21):4257-4266
Academic Journal
Lieber, Daniel S; Calvo, Sarah E; Shanahan, Kristy; Slate, Nancy G; Liu, Shangtao; Hershman, Steven G; Gold, Nina B; Chapman, Brad A; Thorburn, David R; Berry, Gerard T; Schmahmann, Jeremy D; Borowsky, Mark L; Mueller, David M; Sims, Katherine B; Mootha, Vamsi K
Neurology; 5/7/2013, Vol. 80 Issue 19, p1762-1770, 9p
Academic Journal
Li, Yang, Sarah E. Calvo, Roee Gutman, Jun S. Liu, and Vamsi K. Mootha. 2014. “Expansion of Biological Pathways Based on Evolutionary Inference.” Cell 158 (1) (July): 213–225. doi:10.1016/j.cell.2014.05.034.
Academic Journal
Lieber, Daniel S; Hershman, Steven G; Slate, Nancy G; Calvo, Sarah E; Sims, Katherine B; Schmahmann, Jeremy D; Mootha, Vamsi K
Lieber, Daniel S, Steven G Hershman, Nancy G Slate, Sarah E Calvo, Katherine B Sims, Jeremy D Schmahmann, and Vamsi K Mootha. 2014. “Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.” BMC Medical Genetics 15 (1): 30. doi:10.1186/1471-2350-15-30. http://dx.doi.org/10.1186/1471-2350-15-30.
Academic Journal
Horton, Laura C; Slate, Nancy G; Liu, Shangtao; Lieber, Daniel Solomon; Vafai, Scott Bradley; Borowsky, Mark L; Calvo, Sarah E; Schmahmann, Jeremy Dan; Mootha, Vamsi Krishna
Lieber, Daniel S, Scott B. Vafai, Laura C. Horton, Nancy G. Slate, Shangtao Liu, Mark L. Borowsky, Sarah E. Calvo, Jeremy D. Schmahmann, and Vamsi K. Mootha. 2012. Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease. BMC Medical Genetics 13: 3.
Academic Journal
Ma, Li-Jun; Ibrahim, Ashraf S.; Skory, Christopher; Grabherr, Manfred G.; Burger, Gertraud; Butler, Margi; Elias, Marek; Idnurm, Alexander; Lang, B. Franz; Sone, Teruo; Abe, Ayumi; Corrochano, Luis M.; Fu, Jianmin; Hansberg, Wilhelm; Kim, Jung-Mi; Kodira, Chinnappa D.; Koehrsen, Michael J.; Miranda-Saavedra, Diego; O'Leary, Sinead; Ortiz-Castellanos, Lucila; Poulter, Russell; Rodriguez-Romero, Julio; Ruiz-Herrera, José; Shen, Yao-Qing; Zeng, Qiandong; Birren, Bruce W.; Cuomo, Christina A.; Wickes, Brian L.; Calvo, Sarah E; Engels, Reinhard; Galagan, James E; Liu, Bo
Ma, Li-Jun, Ashraf S. Ibrahim, Christopher Skory, Manfred G. Grabherr, Gertraud Burger, Margi Butler, Marek Elias, et al. 2009. Genomic analysis of the basal lineage fungus rhizopus oryzae reveals a whole-genome duplication. PLoS Genetics 5(7): e1000549.
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[AR] Calvo, Sarah E
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