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

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

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

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

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

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

利用大规模并行基因组测序、结构变异筛查和RNA分析,在骨骼纤毛病诊断中获得了较高的诊断率

Hammarsjö, Anna; Pettersson, Maria; Chitayat, David; Handa, Atsuhiko; Anderlid, Britt-Marie; Bartocci, Marco; Basel, Donald; Batkovskyte, Dominyka; Beleza-Meireles, Ana; Conner, Peter; Eisfeldt, Jesper; Girisha, Katta M; Chung, Brian Hon-Yin; Horemuzova, Eva; Hyodo, Hironobu; Korņejeva, Liene; Lagerstedt-Robinson, Kristina; Lin, Angela E; Magnusson, Måns; Moosa, Shahida; Nayak, Shalini S; Nilsson, Daniel; Ohashi, Hirofumi; Ohashi-Fukuda, Naoko; Stranneheim, Henrik; Taylan, Fulya; Traberg, Rasa; Voss, Ulrika; Wirta, Valtteri; Nordgren, Ann; Nishimura, Gen; Lindstrand, Anna; Grigelioniene, Giedre

Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study

癫痫综合征、病因及下一代测序在生命最初两年内发作的癫痫中的应用:一项基于人群的研究

Stödberg, Tommy; Tomson, Torbjörn; Barbaro, Michela; Stranneheim, Henrik; Anderlid, Britt-Marie; Carlsson, Sofia; Åmark, Per; Wedell, Anna

SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia

SLC12A2 基因突变导致 NKCC1 缺乏,进而引发脑病和分泌上皮功能障碍。

Stödberg, Tommy; Magnusson, Måns; Lesko, Nicole; Wredenberg, Anna; Martin Munoz, Daniel; Stranneheim, Henrik; Wedell, Anna

Loqusdb: added value of an observations database of local genomic variation

Loqusdb:局部基因组变异观测数据库的附加价值

Magnusson, Måns; Eisfeldt, Jesper; Nilsson, Daniel; Rosenbaum, Adam; Wirta, Valtteri; Lindstrand, Anna; Wedell, Anna; Stranneheim, Henrik