日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Long-read genome sequencing enhances diagnostics of pediatric neurological disorders

长读长基因组测序可提高儿童神经系统疾病的诊断率。

Ek, Marlene; Kvarnung, Malin; Ten Berk de Boer, Esmee; La Fleur, Linnéa; Ljöstad, Lena; Lyander, Anna; Faergeman, Søren Lejsted; Drue, Simon Opstrup; Thonberg, Håkan; Nordgren, Ann; Soller, Maria Johansson; Wirta, Valtteri; Eisfeldt, Jesper; Lindstrand, Anna

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

Novel activating SNRNP70-ALK fusion in congenital infant-type hemispheric glioma displays clinical response to lorlatinib: a case-report

先天性婴儿型半球胶质瘤中新型激活型 SNRNP70-ALK 融合基因对劳拉替尼有临床反应:病例报告

Arthur, Cecilia; Georgantzi, Kleopatra; de Ståhl, Teresita Díaz; Guan, Jikui; Oder, Blaz; Jylhä, Cecilia; Illies, Christopher; Sandgren, Johanna; Svoboda, Jan; Eisfeldt, Jesper; Barbany, Gisela; Rosenquist, Richard; Sandvik, Ulrika; Hägerstrand, Daniel; Hallberg, Bengt; Palmer, Ruth; Tham, Emma

The Role of the Cysteamine Dioxygenase (ADO) Gene in Atopic Dermatitis

半胱胺双加氧酶 (ADO) 基因在特应性皮炎中的作用

Wang, Sailan; Vaz, Raquel; Lysell, Josefin; Eisfeldt, Jesper; Sahlén, Pelin; Asad, Samina; Wahlgren, Carl-Fredrik; Nordenskjöld, Magnus; Bradley, Maria; Tapia-Paez, Isabel

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

Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples

在局部灌洗样本中可以识别出上尿路尿路上皮癌的诊断和预后基因组异常。

Axelsson, Tomas Andri; Sydén, Filip; Eisfeldt, Jesper; Eriksson, Ylva; Lundberg, Gustav Göthner; Jaremko, Georg; Gyllensten, Ollanta Cuba; Tham, Emma; Brehmer, Marianne

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

Rare coding variants in NOX4 link high ROS levels to psoriatic arthritis mutilans

NOX4 中的罕见编码变异将高 ROS 水平与银屑病关节炎联系起来

Sailan Wang, Pernilla Nikamo, Leena Laasonen, Bjorn Gudbjornsson, Leif Ejstrup, Lars Iversen, Ulla Lindqvist, Jessica J Alm, Jesper Eisfeldt, Xiaowei Zheng, Sergiu-Bogdan Catrina, Fulya Taylan, Raquel Vaz, Mona Ståhle #, Isabel Tapia-Paez #

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

Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency

多组学分析详述了亚微观 inv(15)(q14q15) 产生融合转录本以及 MEIS2 和 NUSAP1 单倍体不足

Marlene Ek, Malin Kvarnung, Maria Pettersson, Maria Johansson Soller, Britt-Marie Anderlid, Håkan Thonberg, Jesper Eisfeldt, Anna Lindstrand