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

Targeting the FNIP2-SERCA2b axis improves metabolic and mitochondrial defects in Ataxia Telangiectasia.

靶向 FNIP2-SERCA2b 轴可改善毛细血管扩张性共济失调的代谢和线粒体缺陷。

Vinciguerra Maria, El Kharef Catiana, Bruhn Christopher, Falbo Lucia, Milanese Chiara, Audano Matteo, Beznoussenko Galina V, Mironov Alexander A, Delia Domenico, Foiani Marco, Mastroberardino Pier Giorgio, Mitro Nico, Costanzo Vincenzo

Prostaglandin D2 Synthase Controls Schwann Cells Metabolism and Peripheral Myelin Homeostasis.

前列腺素D2合成酶控制雪旺细胞代谢和周围髓鞘稳态。

Trimarco Amelia, Audano Matteo, La Marca Rosa, Pellegatta Marta, Canevazzi Paolo, Cariello Mariaconcetta, Falco Marta, Pedretti Silvia, Imperato Gabriele, Cestaro Alessandro, Podini Paola, Dina Giorgia, Quattrini Angelo, Massimino Luca, Caruso Donatella, Mitro Nico, Taveggia Carla

Complex genetic variation in nearly complete human genomes

近乎完整的人类基因组中存在复杂的遗传变异

Logsdon, Glennis A; Ebert, Peter; Audano, Peter A; Loftus, Mark; Porubsky, David; Ebler, Jana; Yilmaz, Feyza; Hallast, Pille; Prodanov, Timofey; Yoo, DongAhn; Paisie, Carolyn A; Harvey, William T; Zhao, Xuefang; Martino, Gianni V; Henglin, Mir; Munson, Katherine M; Rabbani, Keon; Chin, Chen-Shan; Gu, Bida; Ashraf, Hufsah; Scholz, Stephan; Austine-Orimoloye, Olanrewaju; Balachandran, Parithi; Bonder, Marc Jan; Cheng, Haoyu; Chong, Zechen; Crabtree, Jonathan; Gerstein, Mark; Guethlein, Lisbeth A; Hasenfeld, Patrick; Hickey, Glenn; Hoekzema, Kendra; Hunt, Sarah E; Jensen, Matthew; Jiang, Yunzhe; Koren, Sergey; Kwon, Youngjun; Li, Chong; Li, Heng; Li, Jiaqi; Norman, Paul J; Oshima, Keisuke K; Paten, Benedict; Phillippy, Adam M; Pollock, Nicholas R; Rausch, Tobias; Rautiainen, Mikko; Song, Yuwei; Söylev, Arda; Sulovari, Arvis; Surapaneni, Likhitha; Tsapalou, Vasiliki; Zhou, Weichen; Zhou, Ying; Zhu, Qihui; Zody, Michael C; Mills, Ryan E; Devine, Scott E; Shi, Xinghua; Talkowski, Michael E; Chaisson, Mark J P; Dilthey, Alexander T; Konkel, Miriam K; Korbel, Jan O; Lee, Charles; Beck, Christine R; Eichler, Evan E; Marschall, Tobias

Author Correction: Complex genetic variation in nearly complete human genomes

作者更正:近乎完整的人类基因组中存在复杂的遗传变异

Logsdon, Glennis A; Ebert, Peter; Audano, Peter A; Loftus, Mark; Porubsky, David; Ebler, Jana; Yilmaz, Feyza; Hallast, Pille; Prodanov, Timofey; Yoo, DongAhn; Paisie, Carolyn A; Harvey, William T; Zhao, Xuefang; Martino, Gianni V; Henglin, Mir; Munson, Katherine M; Rabbani, Keon; Chin, Chen-Shan; Gu, Bida; Ashraf, Hufsah; Scholz, Stephan; Austine-Orimoloye, Olanrewaju; Balachandran, Parithi; Bonder, Marc Jan; Cheng, Haoyu; Chong, Zechen; Crabtree, Jonathan; Gerstein, Mark; Guethlein, Lisbeth A; Hasenfeld, Patrick; Hickey, Glenn; Hoekzema, Kendra; Hunt, Sarah E; Jensen, Matthew; Jiang, Yunzhe; Koren, Sergey; Kwon, Youngjun; Li, Chong; Li, Heng; Li, Jiaqi; Norman, Paul J; Oshima, Keisuke K; Paten, Benedict; Phillippy, Adam M; Pollock, Nicholas R; Rausch, Tobias; Rautiainen, Mikko; Song, Yuwei; Söylev, Arda; Sulovari, Arvis; Surapaneni, Likhitha; Tsapalou, Vasiliki; Zhou, Weichen; Zhou, Ying; Zhu, Qihui; Zody, Michael C; Mills, Ryan E; Devine, Scott E; Shi, Xinghua; Talkowski, Michael E; Chaisson, Mark J P; Dilthey, Alexander T; Konkel, Miriam K; Korbel, Jan O; Lee, Charles; Beck, Christine R; Eichler, Evan E; Marschall, Tobias

Standard Poster Abstracts for the 17th Asia Pacific Heart Rhythm Society (APHRS) Scientific Sessions

第十七届亚太心律学会(APHRS)科学会议标准海报摘要

Mao, Yafei; Harvey, William T; Porubsky, David; Munson, Katherine M; Hoekzema, Kendra; Lewis, Alexandra P; Audano, Peter A; Rozanski, Allison; Yang, Xiangyu; Zhang, Shilong; Yoo, DongAhn; Gordon, David S; Fair, Tyler; Wei, Xiaoxi; Logsdon, Glennis A; Haukness, Marina; Dishuck, Philip C; Jeong, Hyeonsoo; Del Rosario, Ricardo; Bauer, Vanessa L; Fattor, Will T; Wilkerson, Gregory K; Mao, Yuxiang; Shi, Yongyong; Sun, Qiang; Lu, Qing; Paten, Benedict; Bakken, Trygve E; Pollen, Alex A; Feng, Guoping; Sawyer, Sara L; Warren, Wesley C; Carbone, Lucia; Eichler, Evan E

Untargeted lipidomics reveals unique lipid signatures of extracellular vesicles from porcine colostrum and milk

非靶向脂质组学揭示猪初乳和牛奶细胞外囊泡的独特脂质特征

Rafaela Furioso Ferreira, Morteza H Ghaffari, Fabrizio Ceciliani, Manuela Fontana, Donatella Caruso, Matteo Audano, Giovanni Savoini, Alessandro Agazzi, Vladimir Mrljak, Helga Sauerwein

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.

携带新生 PAK2 变异的个体出现 Knobloch 综合征 2 型的表型扩展

Werren Elizabeth A, Kalsner Louisa, Ewald Jessica M, Peracchio Michael, King Cameron, Vats Purva, Audano Peter A, Robinson Peter N, Adams Mark D, Kelly Melissa A, Matson Adam P

Segmental duplication-mediated rearrangements alter the landscape of mouse genomes

片段重复介导的重排改变了小鼠基因组的格局

Francoeur, Eden R; Audano, Peter A; Ferraj, Ardian; Balachandran, Parithi; Beck, Christine R

Utility of long-read sequencing for All of Us

长读长测序对我们所有人的实用性

Mahmoud, M; Huang, Y; Garimella, K; Audano, P A; Wan, W; Prasad, N; Handsaker, R E; Hall, S; Pionzio, A; Schatz, M C; Talkowski, M E; Eichler, E E; Levy, S E; Sedlazeck, F J

Glucose-derived glutamate drives neuronal terminal differentiation in vitro

葡萄糖衍生的谷氨酸体外驱动神经元末端分化

Laura D'Andrea #, Matteo Audano #, Silvia Pedretti, Silvia Pelucchi, Ramona Stringhi, Gabriele Imperato, Giulia De Cesare, Clara Cambria, Marine H Laporte, Nicola Zamboni, Flavia Antonucci, Monica Di Luca, Nico Mitro #, Elena Marcello #