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

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

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

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

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

PPFIBP1基因的双等位基因功能缺失变异会导致神经发育障碍,表现为小头畸形、癫痫和脑室周围钙化。

Rosenhahn, Erik; O'Brien, Thomas J; Zaki, Maha S; Sorge, Ina; Wieczorek, Dagmar; Rostasy, Kevin; Vitobello, Antonio; Nambot, Sophie; Alkuraya, Fowzan S; Hashem, Mais O; Alhashem, Amal; Tabarki, Brahim; Alamri, Abdullah S; Al Safar, Ayat H; Bubshait, Dalal K; Alahmady, Nada F; Gleeson, Joseph G; Abdel-Hamid, Mohamed S; Lesko, Nicole; Ygberg, Sofia; Correia, Sandrina P; Wredenberg, Anna; Alavi, Shahryar; Seyedhassani, Seyed M; Ebrahimi Nasab, Mahya; Hussien, Haytham; Omar, Tarek E I; Harzallah, Ines; Touraine, Renaud; Tajsharghi, Homa; Morsy, Heba; Houlden, Henry; Shahrooei, Mohammad; Ghavideldarestani, Maryam; Abdel-Salam, Ghada M H; Torella, Annalaura; Zanobio, Mariateresa; Terrone, Gaetano; Brunetti-Pierri, Nicola; Omrani, Abdolmajid; Hentschel, Julia; Lemke, Johannes R; Sticht, Heinrich; Abou Jamra, Rami; Brown, Andre E X; Maroofian, Reza; Platzer, Konrad

PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network

PatientMatcher:一个基于 Python 的可定制开源工具,用于通过 Matchmaker Exchange 网络匹配未确诊的罕见病患者。

Rasi, Chiara; Nilsson, Daniel; Magnusson, Måns; Lesko, Nicole; Lagerstedt-Robinson, Kristina; Wedell, Anna; Lindstrand, Anna; Wirta, Valtteri; Stranneheim, Henrik

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

将全基因组测序整合到医疗保健环境中:在3219名罕见病患者中,多种临床实体均实现了高诊断率

Stranneheim, Henrik; Lagerstedt-Robinson, Kristina; Magnusson, Måns; Kvarnung, Malin; Nilsson, Daniel; Lesko, Nicole; Engvall, Martin; Anderlid, Britt-Marie; Arnell, Henrik; Johansson, Carolina Backman; Barbaro, Michela; Björck, Erik; Bruhn, Helene; Eisfeldt, Jesper; Freyer, Christoph; Grigelioniene, Giedre; Gustavsson, Peter; Hammarsjö, Anna; Hellström-Pigg, Maritta; Iwarsson, Erik; Jemt, Anders; Laaksonen, Mikael; Enoksson, Sara Lind; Malmgren, Helena; Naess, Karin; Nordenskjöld, Magnus; Oscarson, Mikael; Pettersson, Maria; Rasi, Chiara; Rosenbaum, Adam; Sahlin, Ellika; Sardh, Eliane; Stödberg, Tommy; Tesi, Bianca; Tham, Emma; Thonberg, Håkan; Töhönen, Virpi; von Döbeln, Ulrika; Vassiliou, Daphne; Vonlanthen, Sofie; Wikström, Ann-Charlotte; Wincent, Josephine; Winqvist, Ola; Wredenberg, Anna; Ygberg, Sofia; Zetterström, Rolf H; Marits, Per; Soller, Maria Johansson; Nordgren, Ann; Wirta, Valtteri; Lindstrand, Anna; Wedell, Anna

Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy

MT-ND3基因中m.10372A>G新突变导致感觉运动轴索性多发性神经病

Bruhn, Helene; Samuelsson, Kristin; Schober, Florian A; Engvall, Martin; Lesko, Nicole; Wibom, Rolf; Nennesmo, Inger; Calvo-Garrido, Javier; Press, Rayomand; Stranneheim, Henrik; Freyer, Christoph; Wedell, Anna; Wredenberg, Anna

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)

病例报告:线粒体MT-ND5基因的新突变与莱伯遗传性视神经病变(LHON)相关

Engvall, Martin; Kawasaki, Aki; Carelli, Valerio; Wibom, Rolf; Bruhn, Helene; Lesko, Nicole; Schober, Florian A; Wredenberg, Anna; Wedell, Anna; Träisk, Frank