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

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

RNU2-2基因的双等位基因变异会导致一种非常常见的发育性和癫痫性脑病。

Jackson, Adam; Blakes, Alexander J M; Alhaddad, Bader; Henry, Olivia J; Delgado-Vega, Angelica M; Wall, Elizabeth; Abdelhadi, Ola; Agrawal, Shakti; Bakur, Khadijah; Blair, Edward; Brady, Angela F; Brittain, Helen; Chandler, Kate E; Clarke, Natasha; Danelli, Miriana; Drinkall, Nicholas; Duba, Irene; Elmslie, Frances; Ellingford, Jamie; Ewans, Lisa J; Fennell, Andrew P; Gazdagh, Gabriella; Heller, Simon P; Hammarsjö, Anna; Karrman, Kristina; Kini, Usha; Lesko, Nicole; Lindstrand, Anna; Macintosh, Rebecca; Mansour, Sahar; Menzies, Lara; Metcalfe, Kay; Milhench, Alison; Nashef, Lina; O'Keefe, Raymond T; Pacheco, Nadja Pekkola; Palmer, Elizabeth E; Parida, Amitav; Prescott, Katrina; Redman, Melody; Renieri, Alessandra; Fallerini, Chiara; Rizzo, Caterina Lo; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Stewart, Helen; Stödberg, Tommy; Banos-Pinero, Benito; Taylan, Fulya; Thomas, Huw B; Tinella, Flavia; Wiafe, Samuel; Wedell, Anna; Whiffin, Nicola; Walker, Susan; Rius, Rocio; Chae, Jong Hee; Nordgren, Ann; Alkuraya, Fowzan; Lord, Jenny; Banka, Siddharth

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation

卡罗林斯卡基因组医学中心关于罕见病基因组测序的十年报告及分阶段临床实施策略

Lindstrand, Anna; Lagerstedt-Robinson, Kristina; Jemt, Anders; Kvarnung, Malin; Ygberg, Sofia; Vonlanthen, Sofie; Oscarson, Mikael; Nilsson, Daniel; Lesko, Nicole; Mantero, Angelo Salazar; Anderlid, Britt-Marie; Arnell, Henrik; Arthur, Cecilia; Bajalica-Lagercrantz, Svetlana; Barbaro, Michela; Bergman, Peter; Björck, Erik; Picard, Oda Blomqvist; Bruhn, Helene; Carlsten, Jonas; Correia, Sandrina P; De Geer, Karl; Delgado Vega, Angelica M; Ehn, Emma; Eisfeldt, Jesper; Ek, Marlene; Elvers, Ingegerd; Engvall, Martin; Freyer, Christoph; Frisk, Sofia; Graff, Caroline; Grigelioniené, Giedré; Gustafsson, Peter; Hammarsjö, Anna; Helgadottir, Hafdis T; Hellström Pigg, Maritta; Henry, Olivia J; Hägglund, Moa; Iwarsson, Erik; Janvid, Vincent; Soller, Maria Johansson; Sundin, Leif; Kuchinskaya, Ekaterina; Kämpe, Anders; Leinfelt, Anna; Liedén, Agne; Lindelöf, Hillevi; Lyander, Anna; Malmgren, Helena; Mannila, Maria; Marits, Per; Naess, Karin; Neethiraj, Ramprasad; Nyren, Karl; Pappas, Christoforos; Paucar, Martin; Pekkola Pacheco, Nadja; Peña Perez, Lucia; Pettersson, Maria; Pruisscher, Peter; Rasi, Chiara; Renevey, Annick; Rössner, Sophia; Sahlin, Ellika; Stenund, Erik; Stödberg, Tommy; Sundin, Mikael; Svärd, Karl; Tesi, Bianca; Tham, Emma; Thonberg, Håkan; Töhönen, Virpi; Ueberschär, Malin; Wallander, Karin; Westenius, Eini; Winberg, Johanna; Winblad, Nerges; Wincent, Josephine; Winerdal, Malin; Wredenberg, Anna; Zetterlund, Anna; Zetterström, Rolf H; Öfverholm, Ingegerd; Nordgren, Ann; Stranneheim, Henrik; Wirta, Valtteri; Wedell, Anna

Physiological Processing of Everyday Aversive Mental Imagery

日常厌恶性心理意象的生理加工

Yang, Xuan; Oh, Sewon; Stanley, Jacob; Hammons, Sarah; Anderson, Ashley; Gandhi, Esha; Wedell, Douglas H; Shinkareva, Svetlana V

Insecticide Resistance Alters Oviposition Preference in Drosophila melanogaster

杀虫剂抗性改变了黑腹果蝇的产卵偏好

Nogueira Alves, A; Martelli, F; Yang, Y T; Wedell, N

The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder

ZFHX3 GGC 重复序列扩增是 4 型脊髓小脑性共济失调的根本原因,它具有共同的祖先。

Chen, Zhongbo; Alvarez Jerez, Pilar; Anderson, Claire; Paucar, Martin; Lee, Jasmaine; Nilsson, Daniel; Macpherson, Hannah; Scardamaglia, Annarita; Montgomery, Kylie; Hardy, John; Singleton, Andrew B; Tucci, Arianna; Mathews, Katherine D; Fu, Ying-Hui; Engvall, Martin; Laffita-Mesa, José; Nennesmo, Inger; Wedell, Anna; Ptáček, Louis J; Blauwendraat, Cornelis; Gustavsson, Emil K; Svenningsson, Per; Ryten, Mina; Houlden, Henry

Scalable cyberinfrastructure for experimental NMR data

用于实验性核磁共振数据的可扩展网络基础设施

Hoch, Jeffrey C; Henzler-Wildman, Katherine; Edison, Arthur S; Rienstra, Chad M; Bontempi, Christopher; Wedell, Jonathan R; Weatherby, Gerard; Burr, Harrison; Pustovalova, Yulia; Thongdee, Seenat; Gryk, Michael R; Pozhidaeva, Alexandra; Simon, Bernd; Cheng, Qi; Wilson, Michael P; Moraru, Ion I; Morris, Laura; Glushka, John N; Uchimiya, Mario; Eletsky, Alexander; Moore, Abigail E; Grimes, John H Jr; Paterson, Alexander L; Wang, Songlin; Pinheiro, Paulo R; Vanderloop, Boden H; Maciejewski, Mark W

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals

儿童癫痫临床全基因组测序:733例患者的遗传和表型谱

Henry, Olivia J; Ygberg, Sofia; Barbaro, Michela; Lesko, Nicole; Karlsson, Leif; Peña-Pérez, Lucía; Båvner, Ann; Töhönen, Virpi; Lindstrand, Anna; Stödberg, Tommy; Wedell, Anna

Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy

226名癫痫患儿对生酮饮食反应的遗传病因学研究

Dahlin, Maria; Stödberg, Tommy; Ekman, Elin; Töhönen, Virpi; Wedell, Anna

Next-Generation Sequencing in the Diagnostic Workup of Neonatal Dried Blood Spot Screening in Sweden 2015-2023

2015-2023年瑞典新生儿干血斑筛查诊断流程中的下一代测序

Sörensen, Lene; Asin-Cayuela, Jorge; Barbaro, Michela; Bruhn, Helene; Engvall, Martin; Lesko, Nicole; Naess, Karin; Oscarson, Mikael; Shen, Yan; Ueberschär, Malin; Wredenberg, Anna; Sterky, Fredrik H; Wedell, Anna; Zetterström, Rolf H

TIPP3 and TIPP3-fast: Improved abundance profiling in metagenomics

TIPP3 和 TIPP3-fast:改进的宏基因组学丰度分析

Shen, Chengze; Wedell, Eleanor; Pop, Mihai; Warnow, Tandy