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

Evaluation of Genetic or Cellular Impairments in Type I IFN Immunity in a Cohort of Young Adults with Critical COVID-19

对一组患有重症 COVID-19 的年轻成人进行 I 型干扰素免疫遗传或细胞损伤的评估

Covill, L E; Sendel, A; Campbell, T M; Piiroinen, I; Enoksson, S Lind; Borgström, E Wahren; Hansen, S; Ma, K; Marits, P; Norlin, A C; Smith, C I E; Kåhlin, J; Eriksson, L I; Bergman, P; Bryceson, Y T

Case report: IKZF1-related early-onset CID is expected to be missed in TREC-based SCID screening but can be identified by determination of KREC levels

病例报告:基于TREC的SCID筛查预计会漏诊IKZF1相关的早发性CID,但可通过测定KREC水平来识别。

Äng, Christofer; Zetterström, Rolf H; Ramme, Kim; Axelsen, Emma; Marits, Per; Sundin, Mikael

Correction: Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

更正:患有遗传性IRF7缺陷的健康人群的呼吸道病毒感染

Campbell, Tessa Mollie; Liu, Zhiyong; Zhang, Qian; Moncada-Velez, Marcela; Covill, Laura E; Zhang, Peng; Darazam, Ilad Alavi; Bastard, Paul; Bizien, Lucy; Bucciol, Giorgia; Enoksson, Sara Lind; Jouanguy, Emmanuelle; Karabela, Şemsi Nur; Khan, Taushif; Kendir-Demirkol, Yasemin; Arias, Andres Augusto; Mansouri, Davood; Marits, Per; Marr, Nico; Migeotte, Isabelle; Moens, Leen; Ozcelik, Tayfun; Pellier, Isabelle; Sendel, Anton; Şenoğlu, Sevtap; Shahrooei, Mohammad; Smith, C I Edvard; Vandernoot, Isabelle; Willekens, Karen; Yaşar, Kadriye Kart; Bergman, Peter; Abel, Laurent; Cobat, Aurélie; Casanova, Jean-Laurent; Meyts, Isabelle; Bryceson, Yenan T

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

First Year of TREC-Based National SCID Screening in Sweden

瑞典基于TREC的全国性SCID筛查第一年

Göngrich, Christina; Ekwall, Olov; Sundin, Mikael; Brodszki, Nicholas; Fasth, Anders; Marits, Per; Dysting, Sam; Jonsson, Susanne; Barbaro, Michela; Wedell, Anna; von Döbeln, Ulrika; Zetterström, Rolf H

Paediatricians face challenging times as COVID-19 can cloud other diagnoses and lead to treatment delays

儿科医生面临严峻挑战,因为新冠肺炎疫情会影响其他疾病的诊断,并导致治疗延误。

Marits, Ann Katrine; Fischler, Björn; Chromek, Milan

Frequent platelet donation is associated with lymphopenia and risk of infections: A nationwide cohort study

频繁捐献血小板与淋巴细胞减少症和感染风险相关:一项全国性队列研究

Zhao, Jingcheng; Gabriel, Erin; Norda, Rut; Höglund, Petter; Baden, Lindsey; Diedrich, Beatrice A; Marits, Per; Enoksson, Sara L; Gansner, John M; Kaufman, Richard; Dickman, Paul W; Edgren, Gustaf

A flow cytometry-based proliferation assay for clinical evaluation of T-cell memory against SARS-CoV-2

基于流式细胞术的增殖试验用于临床评估针对 SARS-CoV-2 的 T 细胞记忆

Sara Lind Enoksson, Peter Bergman, Jonas Klingström, Fredrik Boström, Rui Da Silva Rodrigues, Malin Elisabeth Winerdal, Per Marits

Drug Tolerant Anti-drug Antibody Assay for Infliximab Treatment in Clinical Practice Identifies Positive Cases Earlier

临床实践中用于检测英夫利昔单抗治疗的耐药抗体检测方法可更早地识别阳性病例

Kharlamova, Nastya; Hermanrud, Christina; Dunn, Nicky; Ryner, Malin; Hambardzumyan, Karen; Vivar Pomiano, Nancy; Marits, Per; Gjertsson, Inger; Saevarsdottir, Saedis; Pullerits, Rille; Fogdell-Hahn, Anna