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

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

RNU2-2基因的双等位基因变异会导致一种非常常见的发育性和癫痫性脑病。

Jackson, Adam; Blakes, Alexander J M; Alhaddad, Bader; Henry, Olivia J; Delgado-Vega, Angelica M; Wall, Elizabeth; Abdelhadi, Ola; Agrawal, Shakti; Bakur, Khadijah; Blair, Edward; Brady, Angela F; Brittain, Helen; Chandler, Kate E; Clarke, Natasha; Danelli, Miriana; Drinkall, Nicholas; Duba, Irene; Elmslie, Frances; Ellingford, Jamie; Ewans, Lisa J; Fennell, Andrew P; Gazdagh, Gabriella; Heller, Simon P; Hammarsjö, Anna; Karrman, Kristina; Kini, Usha; Lesko, Nicole; Lindstrand, Anna; Macintosh, Rebecca; Mansour, Sahar; Menzies, Lara; Metcalfe, Kay; Milhench, Alison; Nashef, Lina; O'Keefe, Raymond T; Pacheco, Nadja Pekkola; Palmer, Elizabeth E; Parida, Amitav; Prescott, Katrina; Redman, Melody; Renieri, Alessandra; Fallerini, Chiara; Rizzo, Caterina Lo; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Stewart, Helen; Stödberg, Tommy; Banos-Pinero, Benito; Taylan, Fulya; Thomas, Huw B; Tinella, Flavia; Wiafe, Samuel; Wedell, Anna; Whiffin, Nicola; Walker, Susan; Rius, Rocio; Chae, Jong Hee; Nordgren, Ann; Alkuraya, Fowzan; Lord, Jenny; Banka, Siddharth

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

Thermal intervention improves pulse oximetry accuracy in critically ill patients with low perfusion: a quasi-experimental study

热疗干预可提高低灌注危重患者的脉搏血氧饱和度测定准确性:一项准实验研究

Karlsson, Natalie; Lindstrand, Felicia Olsson; Johansson, Lotta; Sjödin, Carl

Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort

来自瑞典RFC1谱系障碍队列研究的新临床见解

Alm, Victor; Säll, Linda; Samuelsson, Kristin; Press, Rayomand; Arnardottir, Snjolaug; Lindstrand, Anna; Niemelä, Valter; Terinte, Lilia; Nordin, Frida; Svenningsson, Per; Nilsson, Daniel; Verrecchia, Luca; Paucar, Martin

First Reported Use of Recombinant Parathyroid Hormone in Kenny-Caffey Syndrome Type 2: A Case Report and Literature Review

首次报道重组甲状旁腺激素在Kenny-Caffey综合征2型中的应用:病例报告及文献综述

Djordjevic Milosevic, Maja; Skakic, Anita; Andjelkovic, Marina; Delgado-Vega, Angelica Maria; Thonberg, Håkan; Klaassen, Kristel; Komazec, Jovana; Kecman, Bozica; Jocic, Nikola; Björck, Erik; Lindstrand, Anna; Stojiljkovic, Maja

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

An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families

一个集成的平台可以同时检测结构变异和单核苷酸变异,从而提高拷贝数检测的准确性,并揭示未确诊孟德尔遗传病家族中的致病等位基因。

Du, Haowei; Lun, Ming Yin; Gagarina, Lidiia; Bengtsson, Jesse D; Grochowski, Christopher M; Mehaffey, Michele G; Hwang, James Paul; Jhangiani, Shalini N; Bhamidipati, Sravya V; Muzny, Donna M; Poli, M Cecilia; Ochoa, Sebastian; Chinn, Ivan K; Lindstrand, Anna; Posey, Jennifer E; Gibbs, Richard A; Liu, Pengfei; Lupski, James R; Carvalho, Claudia M B

The evolution of health data ecosystems: An international survey

健康数据生态系统的演变:一项国际调查

Lerner-Ellis, Jordan P; Price, E Magda; Subhani, Shazia; Boughtwood, Tiffany; Brion, Marie-Jo; Rendon, Augusto; Cividanes, Lene; Gemmer, Jacob; Ciofani, Danielle; Bertin, Nicolas; Wee, Seow Shih; Robertson, Stephen; Baz, Batoul; Crameri, Katrin; Österle, Sabine; Wirta, Valtteri; Sikora, Per; Lindstrand, Anna; Nowak, Frédérique; Amado, Inês; Mulder, Nicola Jane; Ganna, Andrea; Goodhand, Peter; Smith, Lindsay D; Marshall, Christian R; Zawati, Ma'n; Ferretti, Vincent; Michaud, Jacques L; Bulman, Dennis; Bernier, Francois; Boycott, Kym M

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals

儿童癫痫临床全基因组测序:733例患者的遗传和表型谱

Henry, Olivia J; Ygberg, Sofia; Barbaro, Michela; Lesko, Nicole; Karlsson, Leif; Peña-Pérez, Lucía; Båvner, Ann; Töhönen, Virpi; Lindstrand, Anna; Stödberg, Tommy; Wedell, Anna