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

The novel ITPR1 p.Phe2566Ser variant impairs IP(3)R1-mediated Ca(2+) release and is associated with ataxia and miosis

新型ITPR1 p.Phe2566Ser变异体损害IP(3)R1介导的Ca(2+)释放,并与共济失调和瞳孔缩小有关。

Wincent, Josephine; Zhang, Songbai; Nolan, Andrew; Kanatani, Shigeaki; Nordin, Frida; Kvarnung, Malin; Uhlén, Per; Paucar, Martin; Eidhof, Ilse

TnP as a Multifaceted Therapeutic Peptide with System-Wide Regulatory Capacity

TnP作为一种具有系统性调控能力的多功能治疗肽

Disner, Geonildo Rodrigo; Wincent, Emma; Lima, Carla; Lopes-Ferreira, Monica

Predicting entrepreneurship from brain structure and neural responses to risk and ambiguity

通过大脑结构和对风险及不确定性的神经反应来预测创业精神

Halko, Marja-Liisa; Lahti, Tom; Hytönen, Kaisa; Wincent, Joakim; Jääskeläinen, Iiro P; Schürmann, Martin

Beneficial and detrimental consequences of AHR activation in intestinal infection

肠道感染中AHR激活的有益和有害后果

Oscar E Diaz,Liang Zhou,Christopher Barrington,Dennis Lindqvist,Frederike Graelmann,Emma Wincent,Brigitta Stockinger

Beneficial and detrimental consequences of AHR activation in intestinal infection

肠道感染中AHR激活的有益和有害后果

Oscar E Diaz ,Liang Zhou ,Christopher Barrington ,Dennis Lindqvist ,Frederike Graelmann ,Emma Wincent ,Brigitta Stockinger

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis

CTNND2相关神经发育疾病的特征、表型-基因型谱以及早期神经发生过程中WNT信号通路的动态变化

Shahsavani, Mansoureh; Wincent, Josephine; Reiter, Ricarda; Soltysova, Andrea; Schuy, Jakob; Helgadottir, Hafdis T; Eisfeldt, Jesper; Ek, Marlene; Ficek, Andrej; Druschke, Lotta; Kusikova, Katarina; Hsieh, Tzung-Chien; Krichhoff, Aron; Krawitz, Peter; Li, Jing-Mei; Webersinke, Gerald; Gorokhova, Svetlana; Missirian, Chantal; Riccardi, Florence; Pavinato, Lisa; Brusco, Alfredo; Mandrile, Giorgia; Trajkova, Slavica; Pintus, Francesco; Gagachovska, Biljana; Waisfisz, Quinten; van Hagen, Annet; Bedoukian, Emma; Izumi, Kosuke; Granger, Leslie; Petersen, Andrea; Oegema, Renske; Huibers, Manon; Demurger, Florence; Brischoux-Boucher, Elise; Julia, Sophie; Banneau, Guillaume; Zavala, M Jesus; Lagos, Catalina; Repetto, Gabriela M; Jouret, Guillaume; Kentros, Catherine; Ganapathi, Mythily; Chung, Wendy K; May, Halie; Hiatt, Susan M; Kelley, Whitley V; Förster, Alisa; Olfe, Lisa; Shillington, Amelle; Dauriat, Benjamin; Mercier, Sandra; Cogné, Benjamin; Engel, Camille; Dahlen, Eric; Rosenberger, Georg; Sauvigny, Thomas; Abdallah, Hamza Hadj; Courtin, Thomas; Stray-Pedersen, Asbjørg; Bernat, John A; Paolillo, Vitoria K; Viso, Florencia Del; Alaimo, Joseph T; Thiffault, Isabelle; Farrow, Emily G; Cohen, Ana S A; Weis, Serge; Duba, Hans-Christoph; Nordgren, Ann; Falk, Anna; Weis, Denisa; Lindstrand, Anna

Beneficial and detrimental consequences of AHR activation in intestinal infection.

AHR激活在肠道感染中的有利和不利后果

Diaz Oscar E, Zhou Liang, Barrington Christopher, Lindqvist Dennis, Graelmann Frederike, Wincent Emma, Stockinger Brigitta

The influence of AHR on immune and tissue biology

AHR对免疫和组织生物学的影响

Stockinger, Brigitta; Diaz, Oscar E; Wincent, Emma

Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps

利用T2T组装解决参考基因组缺口中的罕见和致病性倒位

Bilgrav Saether, Kristine; Eisfeldt, Jesper; Bengtsson, Jesse D; Lun, Ming Yin; Grochowski, Christopher M; Mahmoud, Medhat; Chao, Hsiao-Tuan; Rosenfeld, Jill A; Liu, Pengfei; Ek, Marlene; Schuy, Jakob; Ameur, Adam; Dai, Hongzheng; Hwang, James Paul; Sedlazeck, Fritz J; Bi, Weimin; Marom, Ronit; Wincent, Josephine; Nordgren, Ann; Carvalho, Claudia M B; Lindstrand, Anna