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

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

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

Human In Vitro Models of Neuroenergetics and Neurometabolic Disturbances: Current Advances and Clinical Perspectives

神经能量学和神经代谢紊乱的人类体外模型:当前进展和临床展望

Rogal, Julia; Zamproni, Laura Nicoleti; Nikolakopoulou, Polyxeni; Ygberg, Sofia; Wedell, Anna; Wredenberg, Anna; Herland, Anna

Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency

导致原发性和继发性丙酮酸脱氢酶复合物缺乏症的新型同义突变和深内含子突变

Bruhn, Helene; Naess, Karin; Ygberg, Sofia; Peña-Pérez, Lucía; Lesko, Nicole; Wibom, Rolf; Freyer, Christoph; Stranneheim, Henrik; Wedell, Anna; Wredenberg, Anna

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

ATP6V0C 变异会损害 V-ATPase 功能,导致神经发育障碍,这种障碍通常与癫痫有关。

Mattison, Kari A; Tossing, Gilles; Mulroe, Fred; Simmons, Callum; Butler, Kameryn M; Schreiber, Alison; Alsadah, Adnan; Neilson, Derek E; Naess, Karin; Wedell, Anna; Wredenberg, Anna; Sorlin, Arthur; McCann, Emma; Burghel, George J; Menendez, Beatriz; Hoganson, George E; Botto, Lorenzo D; Filloux, Francis M; Aledo-Serrano, Ángel; Gil-Nagel, Antonio; Tatton-Brown, Katrina; Verbeek, Nienke E; van der Zwaag, Bert; Aleck, Kyrieckos A; Fazenbaker, Andrew C; Balciuniene, Jorune; Dubbs, Holly A; Marsh, Eric D; Garber, Kathryn; Ek, Jakob; Duno, Morten; Hoei-Hansen, Christina E; Deardorff, Matthew A; Raca, Gordana; Quindipan, Catherine; van Hirtum-Das, Michele; Breckpot, Jeroen; Hammer, Trine Bjørg; Møller, Rikke S; Whitney, Andrea; Douglas, Andrew G L; Kharbanda, Mira; Brunetti-Pierri, Nicola; Morleo, Manuela; Nigro, Vincenzo; May, Halie J; Tao, James X; Argilli, Emanuela; Sherr, Elliot H; Dobyns, William B; Baines, Richard A; Warwicker, Jim; Parker, J Alex; Banka, Siddharth; Campeau, Philippe M; Escayg, Andrew

Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies

个体化的人类表型本体基因panel提高了发育性和癫痫性脑病患者队列中临床全外显子组和全基因组测序的分析效率

Henry, Olivia J; Stödberg, Tommy; Båtelson, Sofia; Rasi, Chiara; Stranneheim, Henrik; Wedell, Anna