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

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

PARKIN is not required to sustain OXPHOS function in adult mammalian tissues

在成年哺乳动物组织中,PARKIN 不是维持 OXPHOS 功能所必需的

Roberta Filograna, Jule Gerlach, Hae-Na Choi, Giovanni Rigoni, Michela Barbaro, Mikael Oscarson, Seungmin Lee, Katarina Tiklova, Markus Ringnér, Camilla Koolmeister, Rolf Wibom, Sara Riggare, Inger Nennesmo, Thomas Perlmann, Anna Wredenberg, Anna Wedell, Elisa Motori, Per Svenningsson, Nils-Göran La

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

The molecular machinery for maturation of primary mtDNA transcripts

线粒体DNA初级转录本成熟的分子机制

Vučković, Ana; Freyer, Christoph; Wredenberg, Anna; Hillen, Hauke S

Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3

与 XPNPEP3 基因中一种新的纯合变异相关的伴有听力丧失和肾痨的共济失调综合征

Ben-Shabat, Ilan; Kvarnung, Malin; Sperker, Wolfgang; Bruhn, Helene; Wredenberg, Anna; Wibom, Rolf; Nennesmo, Inger; Engvall, Martin; Paucar, Martin

ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing

ANGEL2磷酸酶活性是非典型线粒体RNA加工所必需的

Paula Clemente, Javier Calvo-Garrido, Sarah F Pearce, Florian A Schober, Megumi Shigematsu, Stefan J Siira, Isabelle Laine, Henrik Spåhr, Christian Steinmetzger, Katja Petzold, Yohei Kirino, Rolf Wibom, Oliver Rackham, Aleksandra Filipovska, Joanna Rorbach, Christoph Freyer #, Anna Wredenberg #

Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion

哺乳动物 RNase H1 指导 RNA 引物的形成,启动线粒体 DNA 复制,并且对于线粒体 DNA 复制的完成也是必需的。

Misic, Jelena; Milenkovic, Dusanka; Al-Behadili, Ali; Xie, Xie; Jiang, Min; Jiang, Shan; Filograna, Roberta; Koolmeister, Camilla; Siira, Stefan J; Jenninger, Louise; Filipovska, Aleksandra; Clausen, Anders R; Caporali, Leonardo; Valentino, Maria Lucia; La Morgia, Chiara; Carelli, Valerio; Nicholls, Thomas J; Wredenberg, Anna; Falkenberg, Maria; Larsson, Nils-Göran

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