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

Breast cancer risk in women with neurofibromatosis type 1: a register-based cohort study from Denmark and Sweden

患有1型神经纤维瘤病的女性罹患乳腺癌的风险:一项来自丹麦和瑞典的基于登记数据的队列研究

Tettamanti, Giorgio; Pedersen, Annie; Feychting, Maria; Tesi, Bianca; Ejerskov, Cecilie; Doherty, Mia Aagaard; Tham, Emma; Nordenvall, Anna Skarin; Kenborg, Line; Nordgren, Ann

Comorbidities and mutations including single- and multihit TET2 mutations in relation to outcome in chronic myelomonocytic leukaemia-A population-based study

慢性粒单核细胞白血病患者合并症和突变(包括单次和多次TET2突变)与预后的关系——一项基于人群的研究

Kynning, Matilda Kjellander; Westerberg, Ebba; Forsell, Linda; Creignou, Maria; Berggren, Daniel Moreno; Tesi, Bianca; Bernard, Elsa; Papaemmanuil, Elli; Nannya, Yasuhito; Franco, Lucia Cavelier; Valentini, Davide; Lindberg, Eva Hellström; Ogawa, Seishi; Ejerblad, Elisabeth; Ungerstedt, Johanna

Development of myeloid neoplasia associated with prolonged immune cell-associated hematotoxicity after CAR T-cell treatment of B-cell lymphoma: Should we surveille for pre-existing myeloid mutations?

细胞淋巴瘤 CAR T 细胞治疗后出现与长期免疫细胞相关血液毒性相关的髓系肿瘤:我们是否应该监测预先存在的髓系突变?

Carlsten, Mattias; Lindfors Rossi, Elisa Linnea; Jädersten, Martin; Tesi, Bianca; Abd Own, Sulaf; Sander, Brigitta; Deneberg, Stefan; Ivinskiy, Anne; Sonnevi, Kristina; Sjölund, Hanna; Enblad, Gunilla; Wahlin, Björn; Mielke, Stephan

Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study

验证具有种系易感性的髓系肿瘤遗传学检查指南:一项前瞻性队列研究的结果

Tesi, Bianca; Robelius, Anna; Baskin, Berivan; Lazarevic, Vladimir; Deneberg, Stefan; Höglund, Martin; Fogelstrand, Linda; Ungerstedt, Johanna; Pandzic, Tatjana; Tobiasson, Magnus; Garelius, Hege Gravdahl; Kuchinskaya, Ekaterina; Persson, Fredrik; Ågerstam, Helena; Hallböök, Helene; Fioretos, Thoas; Nordin, Jessika; Norberg, Anna; Thuresson, Ann-Charlotte; Lehmann, Sören; Ladenvall, Claes; Barbany, Gisela; Vennström, Lovisa; Ejerblad, Elisabeth; Cavelier, Lucia; Cammenga, Jörg; Jädersten, Martin; Hellström-Lindberg, Eva; Baliakas, Panagiotis

Polygenic scores in Familial breast cancer cases with and without pathogenic variants and the risk of contralateral breast cancer

家族性乳腺癌病例中,携带和不携带致病变异的多基因评分与对侧乳腺癌风险的关系

Kvist, Anders; Kämpe, Anders; Törngren, Therese; Tesi, Bianca; Baliakas, Panagiotis; Borg, Åke; Eriksson, Daniel

Uncovering allosteric communication in cancer-related histone mutations

揭示癌症相关组蛋白突变中的变构通讯

Saini, Jasmine; Nathani, Rohit; Singh, Sumitabh; Ebbehoj, Andreas; Thangamuthu, Karthik; Suresh, Malavika; Zhang, Catherine D; Nevin, Sophia; Fell, Vanessa; Atkinson, Elizabeth J; Achenbach, Sara J; Stricker, Nikki H; Bancos, Irina; Long, Yongyu; Zhang, Wenhao; Cao, Lan; Huang, Xiaobing; Wang, Ying; Morlanes, Javier Escudero; Lehto, Timo-Pekka; Larsson, Ludvig; Galicia, Leire Alonso; Mollbrink, Annelie; Shamikh, Alia; Basmaci, Elisa; Prochazka, Gabriela; De Ståhl, Teresita Diaz; Sandgren, Johanna; Taylan, Fulya; Tesi, Bianca; Nordgren, Ann; Erickson, Andrew; Lamb, Alastair D; Blomgren, Klas; Nistér, Monica; Lundeberg, Joakim; Mirzazadeh, Reza; Kvastad, Linda; Li, Shuxiang; Shu, Jie; Rober, James C; Macklem, Austin; Espiritu, Daniel; Debnath, Tanay; Tian, Samuel; Tian, Daniel; Aristizabal, Maria J; Panchenko, Anna R

Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder

在两个患有常染色体隐性端粒生物学疾病的家族中鉴定出双等位基因POLA2变异。

Kvarnung, Malin; Pettersson, Maria; Chun-On, Pattra; Rafati, Maryam; McReynolds, Lisa J; Norberg, Anna; Moura, Pedro Luis; Pesonen, Ida; Chaireti, Roza; Grönros Söderholm, Boa; Burlin, Julia; Rydén, Jenny; Lindberg, Eva Hellström; Giri, Neelam; Savage, Sharon A; Agarwal, Suneet; Nordgren, Ann; Tesi, Bianca

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

Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis

T细胞检测在诊断细胞毒性淋巴细胞胞吐原发性缺陷中的有效性

Chiang, Samuel C C; Covill, Laura E; Tesi, Bianca; Campbell, Tessa M; Schlums, Heinrich; Nejati-Zendegani, Jelve; Mördrup, Karina; Wood, Stephanie; Theorell, Jakob; Sekine, Takuya; Al-Herz, Waleed; Akar, Himmet Haluk; Belen, Fatma Burcu; Chan, Mei Yoke; Devecioglu, Omer; Aksu, Tekin; Ifversen, Marianne; Malinowska, Iwona; Sabel, Magnus; Unal, Ekrem; Unal, Sule; Introne, Wendy J; Krzewski, Konrad; Gilmour, Kimberly C; Ehl, Stephan; Ljunggren, Hans-Gustaf; Nordenskjöld, Magnus; Horne, AnnaCarin; Henter, Jan-Inge; Meeths, Marie; Bryceson, Yenan T