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S

Stephanie N. Oprescu

Department of Orthopaedic Surgery
H指数:16
被引数:980

个人简介

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教育背景

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工作经历

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荣誉奖项

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Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models
JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2019-11-1148
OA
Morelli, Kathryn H.; Griffin, Laurie B.; Pyne, Nettie K.; Wallace, Lindsay M.; Fowler, Allison M.; Oprescu, Stephanie N.; Takase, Ryuichi; Wei, Na; Meyer-Schuman, Rebecca; Mellacheruvu, Dattatreya; Kitzman, Jacob O.; Kocen, Samuel G.; Hines, Timothy J.; Spaulding, Emily L.; Lupski, James R.; Nesvizhskii, Alexey; Mancias, Pedro; Butler, Ian J.; Yang, Xiang-Lei; Hou, Ya-Ming; Antonellis, Anthony; Harper, Scott Q.; Burgess, Robert W.
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
NEUROLOGY-GENETICS
IF3.7
2019-04-0114
OAAI
Sun, Chong; Song, Jie; Jiang, Yanjun; Zhao, Chongbo; Lu, Jiahong; Li, Yuxin; Wang, Yin; Gao, Mingshi; Xi, Jianying; Luo, Sushan; Li, Meixia; Donaldson, Kevin; Oprescu, Stephanie N.; Slavin, Thomas P.; Lee, Sansan; Magoulas, Pilar L.; Lewis, Andrea M.; Emrick, Lisa; Lalani, Seema R.; Niu, Zhiyv; Landsverk, Megan L.; Walkiewicz, Magdalena; Person, Richard E.; Mei, Hui; Rosenfeld, Jill A.; Yang, Yaping; Antonellis, Anthony; Hou, Ya-Ming; Lin, Jie; Zhang, Victor W.
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
NATURE COMMUNICATIONS
IF15.7
2019-02-1244
OAAI
Siekierska, Aleksandra; Stamberger, Hannah; Deconinck, Tine; Oprescu, Stephanie N.; Partoens, Michele; Zhang, Yifan; Sourbron, Jo; Adriaenssens, Elias; Mullen, Patrick; Wiencek, Patrick; Hardies, Katia; Lee, Jeong-Soo; Giong, Hoi-Khoanh; Distelmaier, Felix; Elpeleg, Orly; Helbig, Katherine L.; Hersh, Joseph; Isikay, Sedat; Jordan, Elizabeth; Karaca, Ender; Kecskes, Angela; Lupski, James R.; Kovacs-Nagy, Reka; May, Patrick; Narayanan, Vinodh; Pendziwiat, Manuela; Ramsey, Keri; Rangasamy, Sampathkumar; Shinde, Deepali N.; Spiegel, Ronen; Timmerman, Vincent; von Spiczak, Sarah; Helbig, Ingo; Balak, Chris; Belnap, Newell; Claasen, Ana; Courtright, Amanda; de Both, Matt; Huentelman, Matthew J.; Naymik, Marcus; Richholt, Ryan; Siniard, Ashley L.; Szelinger, Szabolcs; Craig, David W.; Schrauwen, Isabelle; Afawi, Zaid; Balling, Rudi; Baulac, Stephanie; Barisic, Nina; Caglayan, Hande S.; Craiu, Dana; Guerrero-Lopez, Rosa; Guerrini, Renzo; Hjalgrim, Helle; Jahn, Johanna; Klein, Karl Martin; Leguern, Eric; Lemke, Johannes R.; Lerche, Holger; Marini, Carla; Moller, Rikke S.; Muhle, Hiltrud; Rosenow, Felix; Serratosa, Jose; Suls, Arvid; Stephani, Ulrich; Sterbova, Katalin; Striano, Pasquale; Zara, Federico; Weckhuysen, Sarah; Francklyn, Christopher; Antonellis, Anthony; de Witte, Peter; De Jonghe, Peter
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy

与显性轴突周围神经病相关的组氨酰-tRNA合成酶的底物相互作用缺陷

HUMAN MUTATION
IF3.7
2017-12-2630
OAAI
Abbott, Jamie A.; Meyer-Schuman, Rebecca; Lupo, Vincenzo; Feely, Shawna; Mademan, Ines; Oprescu, Stephanie N.; Griffin, Laurie B.; Alberti, M. Antonia; Casasnovas, Carlos; Aharoni, Sharon; Basel-Vanagaite, Lina; Zuchner, Stephan; De Jonghe, Peter; Baets, Jonathan; Shy, Michael E.; Espinos, Carmen; Demeler, Borries; Antonellis, Anthony; Francklyn, Christopher

研究方向

暂未获取到该数据
A
Anthony Antonellis
H 指数:39论文数:142被引数:6,145
S
Shihuan Kuang
H 指数:60论文数:261被引数:1.3万
F
Feng Yue
H 指数:25论文数:72被引数:2,258
陈静娟 封面图
陈静娟
H 指数:14论文数:64被引数:862
L
Laurie B. Griffin
H 指数:18论文数:64被引数:1,605
Y
Ya‐Ming Hou
H 指数:45论文数:244被引数:7,260
J
Jiamin Qiu
H 指数:16论文数:42被引数:984
Z
Zhihao Jia
H 指数:27论文数:128被引数:2,252
R
Ryuichi Takase
H 指数:15论文数:45被引数:624
L
Lijia Zhang
H 指数:29论文数:64被引数:2,879