日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Benchmarking RNA-seq Tools for Real-World Diagnostic Applications

RNA-seq 工具在实际诊断应用中的基准测试

Silverstein, Sarah; Ganapathy, Kaushik; Donkervoort, Sandra; Bolduc, Veronique; Hu, Ying; Moy, Justin; Uapinyoying, Prech; Gorokhova, Svetlana; Ganesh, Vijay; Weisburd, Ben; OrBach, Rotem; Foley, A Reghan; Mohammadi, Pejman; Adams, David; Bonnemann, Carsten

Benchmarking RNA-seq Tools for Real-World Diagnostic Applications

RNA-seq 工具在实际诊断应用中的基准测试

Silverstein, Sarah; Ganapathy, Kaushik R; Donkervoort, Sandra; Bolduc, Véronique; Hu, Ying; Moy, Justin; Uapinyoying, Prech; Gorokhova, Svetlana; Ganesh, Vijay; Weisburd, Ben; Orbach, Rotem; Foley, A Reghan; Mohammadi, Pejman; Adams, David R; Bönnemann, Carsten G

Failure to resolve inflammation contributes to juvenile onset cardiac damage in a mouse model of Duchenne muscular dystrophy.

在杜氏肌营养不良症小鼠模型中,炎症无法消除会导致幼年期心脏损伤

Novak James S, Lischin Amy, Uapinyoying Prech, Hindupur Ravi, Moon Young Jae, Bhattacharya Surajit, Tiufekchiev-Grieco Sarah, Barone Victoria, Mázala Davi A G, Gamu Iteoluwakishi H, Walters Gabriela, Jaiswal Jyoti K

Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation

NEB基因143和144号外显子的差异性包含有助于深入了解NEB相关肌病变异的解读和疾病表现。

Silverstein, Sarah; Orbach, Rotem; Syeda, Safoora; Foley, A Reghan; Gorokhova, Svetlana; Meilleur, Katherine G; Leach, Meganne E; Uapinyoying, Prech; Chao, Katherine R; Donkervoort, Sandra; Bönnemann, Carsten G

The Comet Interceptor Mission

彗星拦截器任务

Jones, Geraint H; Snodgrass, Colin; Tubiana, Cecilia; Küppers, Michael; Kawakita, Hideyo; Lara, Luisa M; Agarwal, Jessica; André, Nicolas; Attree, Nicholas; Auster, Uli; Bagnulo, Stefano; Bannister, Michele; Beth, Arnaud; Bowles, Neil; Coates, Andrew; Colangeli, Luigi; Corral van Damme, Carlos; Da Deppo, Vania; De Keyser, Johan; Della Corte, Vincenzo; Edberg, Niklas; El-Maarry, Mohamed Ramy; Faggi, Sara; Fulle, Marco; Funase, Ryu; Galand, Marina; Goetz, Charlotte; Groussin, Olivier; Guilbert-Lepoutre, Aurélie; Henri, Pierre; Kasahara, Satoshi; Kereszturi, Akos; Kidger, Mark; Knight, Matthew; Kokotanekova, Rosita; Kolmasova, Ivana; Kossacki, Konrad; Kührt, Ekkehard; Kwon, Yuna; La Forgia, Fiorangela; Levasseur-Regourd, Anny-Chantal; Lippi, Manuela; Longobardo, Andrea; Marschall, Raphael; Morawski, Marek; Muñoz, Olga; Näsilä, Antti; Nilsson, Hans; Opitom, Cyrielle; Pajusalu, Mihkel; Pommerol, Antoine; Prech, Lubomir; Rando, Nicola; Ratti, Francesco; Rothkaehl, Hanna; Rotundi, Alessandra; Rubin, Martin; Sakatani, Naoya; Sánchez, Joan Pau; Simon Wedlund, Cyril; Stankov, Anamarija; Thomas, Nicolas; Toth, Imre; Villanueva, Geronimo; Vincent, Jean-Baptiste; Volwerk, Martin; Wurz, Peter; Wielders, Arno; Yoshioka, Kazuo; Aleksiejuk, Konrad; Alvarez, Fernando; Amoros, Carine; Aslam, Shahid; Atamaniuk, Barbara; Baran, Jędrzej; Barciński, Tomasz; Beck, Thomas; Behnke, Thomas; Berglund, Martin; Bertini, Ivano; Bieda, Marcin; Binczyk, Piotr; Busch, Martin-Diego; Cacovean, Andrei; Capria, Maria Teresa; Carr, Chris; Castro Marín, José María; Ceriotti, Matteo; Chioetto, Paolo; Chuchra-Konrad, Agata; Cocola, Lorenzo; Colin, Fabrice; Crews, Chiaki; Cripps, Victoria; Cupido, Emanuele; Dassatti, Alberto; Davidsson, Björn J R; De Roche, Thierry; Deca, Jan; Del Togno, Simone; Dhooghe, Frederik; Donaldson Hanna, Kerri; Eriksson, Anders; Fedorov, Andrey; Fernández-Valenzuela, Estela; Ferretti, Stefano; Floriot, Johan; Frassetto, Fabio; Fredriksson, Jesper; Garnier, Philippe; Gaweł, Dorota; Génot, Vincent; Gerber, Thomas; Glassmeier, Karl-Heinz; Granvik, Mikael; Grison, Benjamin; Gunell, Herbert; Hachemi, Tedjani; Hagen, Christian; Hajra, Rajkumar; Harada, Yuki; Hasiba, Johann; Haslebacher, Nico; Herranz De La Revilla, Miguel Luis; Hestroffer, Daniel; Hewagama, Tilak; Holt, Carrie; Hviid, Stubbe; Iakubivskyi, Iaroslav; Inno, Laura; Irwin, Patrick; Ivanovski, Stavro; Jansky, Jiri; Jernej, Irmgard; Jeszenszky, Harald; Jimenéz, Jaime; Jorda, Laurent; Kama, Mihkel; Kameda, Shingo; Kelley, Michael S P; Klepacki, Kamil; Kohout, Tomáš; Kojima, Hirotsugu; Kowalski, Tomasz; Kuwabara, Masaki; Ladno, Michal; Laky, Gunter; Lammer, Helmut; Lan, Radek; Lavraud, Benoit; Lazzarin, Monica; Le Duff, Olivier; Lee, Qiu-Mei; Lesniak, Cezary; Lewis, Zoe; Lin, Zhong-Yi; Lister, Tim; Lowry, Stephen; Magnes, Werner; Markkanen, Johannes; Martinez Navajas, Ignacio; Martins, Zita; Matsuoka, Ayako; Matyjasiak, Barbara; Mazelle, Christian; Mazzotta Epifani, Elena; Meier, Mirko; Michaelis, Harald; Micheli, Marco; Migliorini, Alessandra; Millet, Aude-Lyse; Moreno, Fernando; Mottola, Stefano; Moutounaick, Bruno; Muinonen, Karri; Müller, Daniel R; Murakami, Go; Murata, Naofumi; Myszka, Kamil; Nakajima, Shintaro; Nemeth, Zoltan; Nikolajev, Artiom; Nordera, Simone; Ohlsson, Dan; Olesk, Aire; Ottacher, Harald; Ozaki, Naoya; Oziol, Christophe; Patel, Manish; Savio Paul, Aditya; Penttilä, Antti; Pernechele, Claudio; Peterson, Joakim; Petraglio, Enrico; Piccirillo, Alice Maria; Plaschke, Ferdinand; Polak, Szymon; Postberg, Frank; Proosa, Herman; Protopapa, Silvia; Puccio, Walter; Ranvier, Sylvain; Raymond, Sean; Richter, Ingo; Rieder, Martin; Rigamonti, Roberto; Ruiz Rodriguez, Irene; Santolik, Ondrej; Sasaki, Takahiro; Schrödter, Rolf; Shirley, Katherine; Slavinskis, Andris; Sodor, Balint; Soucek, Jan; Stephenson, Peter; Stöckli, Linus; Szewczyk, Paweł; Troznai, Gabor; Uhlir, Ludek; Usami, Naoto; Valavanoglou, Aris; Vaverka, Jakub; Wang, Wei; Wang, Xiao-Dong; Wattieaux, Gaëtan; Wieser, Martin; Wolf, Sebastian; Yano, Hajime; Yoshikawa, Ichiro; Zakharov, Vladimir; Zawistowski, Tomasz; Zuppella, Paola; Rinaldi, Giovanna; Ji, Hantao

Allele-specific CRISPR-Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy

等位基因特异性 CRISPR-Cas9 编辑可使与胶原 VI 型肌营养不良症相关的单核苷酸变异失活

Véronique Bolduc, Katherine Sizov, Astrid Brull, Eric Esposito, Grace S Chen, Prech Uapinyoying, Apurva Sarathy, Kory R Johnson, Carsten G Bönnemann

Smartphone App-Based Remote Monitoring Challenges in Patients with Cardiac Resynchronization Therapy Defibrillators-A Multicenter Study

智能手机应用程序在心脏再同步治疗除颤器患者远程监测中面临的挑战——一项多中心研究

Kowal, Dagmar; Prech, Marek; Katarzyńska-Szymańska, Agnieszka; Baszko, Artur; Skonieczny, Grzegorz; Wabich, Elżbieta; Kempa, Maciej; Rubiś, Błażej; Mitkowski, Przemysław

An open platform for visual stimulation of insects

一个用于昆虫视觉刺激的开放平台

Prech, Stefan; Groschner, Lukas N; Borst, Alexander

Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy

等位基因特异性 CRISPR/Cas9 编辑可灭活与胶原 VI 型肌营养不良症相关的单核苷酸变异

Véronique Bolduc, Katherine Sizov, Astrid Brull, Eric Esposito, Grace S Chen, Prech Uapinyoying, Apurva Sarathy, Kory Johnson, Carsten G Bönnemann

Failure to Resolve Inflammation Contributes to Juvenile-Onset Cardiomyopathy in a Mouse Model of Duchenne Muscular Dystrophy

炎症无法消退导致杜氏肌营养不良症小鼠模型出现青少年型心肌病

James S Novak, Amy Lischin, Prech Uapinyoying, Ravi Hindupur, Young Jae Moon, Surajit Bhattacharya, Sarah Tiufekchiev, Victoria Barone, Davi A G Mázala, Iteoluwakishi H Gamu, Gabriela Walters, Karuna Panchapakesan, Jyoti K Jaiswal