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

Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis

Nallo:用于全面分析人类长读长基因组的 Nextflow 流程

Lenner, Felix; Jemt, Anders; Peña Pérez, Lucia; Neethiraj, Ramprasad; Pruisscher, Peter; Schmitz, Daniel; Renevey, Annick; Corcoran, Pádraic; Nilsson, Daniel; Eisfeldt, Jesper; Lindstrand, Anna; Wirta, Valtteri; Ameur, Adam; Feuk, Lars

Recommendations for bioinformatics in clinical practice

生物信息学在临床实践中的应用建议

Lavrichenko, Ksenia; Engdal, Emilie Sofie; Marvig, Rasmus L; Jemt, Anders; Vignes, Jone Marius; Almusa, Henrikki; Saether, Kristine Bilgrav; Briem, Eiríkur; Caceres, Eva; Elvarsdóttir, Edda María; Gíslason, Magnús Halldór; Haanpää, Maria K; Henmyr, Viktor; Hotakainen, Ronja; Kaasinen, Eevi; Kanninga, Roan; Khan, Sofia; Lie-Nielsen, Mary Gertrude; Madsen, Majbritt Busk; Mähler, Niklas; Maqbool, Khurram; Neethiraj, Ramprasad; Nyrén, Karl; Paavola, Minna; Pruisscher, Peter; Sheng, Ying; Singh, Ashish Kumar; Srivastava, Aashish; Stautland, Thomas K; Andreasen, Daniel T; de Boer, Esmee Ten Berk; Vang, Søren; Wirta, Valtteri; Bagger, Frederik Otzen

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

借助首届“未确诊疾病黑客马拉松”,突破罕见病诊断的界限

Delgado-Vega, Angelica Maria; Cederroth, Helene; Taylan, Fulya; Ekholm, Katja; Ek, Marlene; Thonberg, Håkan; Jemt, Anders; Nilsson, Daniel; Eisfeldt, Jesper; Bilgrav Saether, Kristine; Höijer, Ida; Akgun-Dogan, Ozlem; Asano, Yui; Barakat, Tahsin Stefan; Batkovskyte, Dominyka; Baynam, Gareth; Bodamer, Olaf; Chetruengchai, Wanna; Corcoran, Pádraic; Couse, Madeline; Danis, Daniel; Demidov, German; Dohi, Eisuke; Erhardsson, Mattias; Fernandez-Luna, Luis; Fujiwara, Toyofumi; Garg, Neha; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Grigelioniene, Giedre; Groza, Tudor; Gunnarsson, Cecilia; Hammarsjö, Anna; Hammond, Charles Kumi; Hatirnaz Ng, Özden; Hesketh, Sirisha; Hettiarachchi, Dineshani; Johansson Soller, Maria; Kirmani, Umn Ahmed; Kjellberg, Martin; Kvarnung, Malin; Kvlividze, Oleg; Lagerstedt-Robinson, Kristina; Lasko, Paul; Lassmann, Timo; Lau, Lynette Y S; Laurie, Steven; Lim, Weng Khong; Liu, Zhandong; Lysenkova Wiklander, Mariya; Makay, Prince; Maiga, Alassane Baneye; Maya-González, Carolina; Meyn, M Stephen; Neethiraj, Ramprasad; Nigro, Vincenzo; Nordgren, Felix; Nordlund, Jessica; Orrsjö, Sara; Ottosson, Jesper; Ozbek, Ugur; Özdemir, Özkan; Partin, Clyde; Pearce, David A; Peck, Raquel; Pedersen, Annie; Pettersson, Maria; Pongpanich, Monnat; Posada de la Paz, Manuel; Ramani, Arun; Romero, Juan Andres; Romero, Vanessa I; Rosenquist, Richard; Saw, Aung Min; Spencer, Matthew; Stattin, Eva-Lena; Srichomthong, Chalurmpon; Tapia-Paez, Isabel; Taruscio, Domenica; Taylor, Julie P; Tkemaladze, Tinatin; Tully, Ian; Tümer, Zeynep; van Zelst-Stams, Wendy A G; Verloes, Alain; Västerviga, Emma; Wang, Sailan; Yang, Rachel; Yamamoto, Shinya; Yépez, Vicente A; Zhang, Qing; Shotelersuk, Vorasuk; Wiafe, Samuel Agyei; Alanay, Yasemin; Botto, Lorenzo D; Kirmani, Salman; Lumaka, Aimé; Palmer, Elizabeth Emma; Puri, Ratna Dua; Wirta, Valtteri; Lindstrand, Anna; Buske, Orion J; Cederroth, Mikk; Nordgren, Ann

Outcomes in Emergency Department Patients with Dyspnea versus Chest Pain: A Retrospective Consecutive Cohort Study

急诊科呼吸困难患者与胸痛患者的预后:一项回顾性连续队列研究

Jemt, Erik; Ekström, Magnus; Ekelund, Ulf

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

Mortality in Edentulous Patients: A Registry-Based Cohort Study in Sweden Comparing 8463 Patients Treated with Removable Dentures or Implant-Supported Dental Prostheses

无牙颌患者的死亡率:一项基于瑞典登记数据的队列研究,比较了8463名接受活动义齿或种植体支持式义齿治疗的患者

Kowar, Jan; Stenport, Victoria; Nilsson, Mats; Jemt, Torsten

An automated approach to prepare tissue-derived spatially barcoded RNA-sequencing libraries

一种制备组织来源的空间条形码 RNA 测序文库的自动化方法

Anders Jemt, Fredrik Salmén, Anna Lundmark, Annelie Mollbrink, José Fernández Navarro, Patrik L Ståhl, Tülay Yucel-Lindberg, Joakim Lundeberg

Regulation of DNA replication at the end of the mitochondrial D-loop involves the helicase TWINKLE and a conserved sequence element

线粒体 D 环末端的 DNA 复制调控涉及解旋酶 TWINKLE 和保守序列元件

Elisabeth Jemt, Örjan Persson, Yonghong Shi, Majda Mehmedovic, Jay P Uhler, Marcela Dávila López, Christoph Freyer, Claes M Gustafsson, Tore Samuelsson, Maria Falkenberg

Endonuclease specificity and sequence dependence of type IIS restriction enzymes

IIS 型限制性酶的内切酶特异性和序列依赖性

Sverker Lundin, Anders Jemt, Finn Terje-Hegge, Napoleon Foam, Erik Pettersson, Max Käller, Valtteri Wirta, Preben Lexow, Joakim Lundeberg