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

Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting

在临床环境下,采用外显子组和基因组测序对1000例三联体分析进行诊断的产出率

Malmgren, Helena; Kvarnung, Malin; Gustafsson, Peter; Anderlid, Britt-Marie; Arthur, Cecilia; Carlsten, Jonas; De Geer, Karl; Ehn, Emma; Grigelioniené, Giedre; Hammarsjö, Anna; Helgadottir, Hafdis T; Hellström-Pigg, Maritta; Iwarsson, Erik; Kuchinskaya, Ekaterina; Lindelöf, Hillevi; Mannila, Maria; Nilsson, Daniel; Pettersson, Maria; Rudd, Eva; Sahlin, Ellika; Tesi, Bianca; Tham, Emma; Thonberg, Håkan; Westenius, Eini; Winberg, Johanna; Winerdal, Max; Nordenskjöld, Magnus; Johansson-Soller, Maria; Wirta, Valtteri; Nordgren, Ann; Lindstrand, Anna; Lagerstedt-Robinson, Kristina

The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.

发病年龄和家族史作为瑞典遗传性视网膜疾病队列分子诊断预测指标的价值

De Geer Karl, Löfgren Stefan, Lindstrand Anna, Kvarnung Malin, Björck Erik

Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report

通过全基因组测序揭示晚发性视网膜色素变性中的III型γ粘脂沉积症:病例报告

De Geer, Karl; Mascianica, Katarzyna; Naess, Karin; Sardh, Eliane; Lindstrand, Anna; Björck, Erik