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

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

Widespread Skin Telangiectasias in Spinocerebellar Ataxia Type 27B

脊髓小脑性共济失调27B型中的广泛性皮肤毛细血管扩张

Alm, Victor; Thonberg, Håkan; Svenningsson, Per; Paucar, Martin

Phenotypic variability in early-onset dementia segregating with a novel APP (p.I718M) variant

早发性痴呆的表型变异与一种新的APP(p.I718M)变异相关

Johansson, Charlotte; Rodriguez-Vieitez, Elena; Bluma, Marina; Nennesmo, Inger; Thonberg, Håkan; Ullgren, Abbe; Jelic, Vesna; Zetterberg, Henrik; Blennow, Kaj; Nordberg, Agneta; Graff, Caroline

Author Correction: A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease

作者更正:一种新生、嵌合且复杂的21号染色体重排导致APP三倍体和家族性常染色体显性遗传早发性阿尔茨海默病。

Ehn, Emma; Eisfeldt, Jesper; Laffita-Mesa, Jose M; Thonberg, Håkan; Schoumans, Jacqueline; Portaankorva, Anne M; Viitanen, Matti; Lindstrand, Anna; Nennesmo, Inger; Graff, Caroline

A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease

一种新生、嵌合且复杂的21号染色体重排导致APP三倍体和家族性常染色体显性遗传早发性阿尔茨海默病。

Ehn, Emma; Eisfeldt, Jesper; Laffita-Mesa, Jose M; Thonberg, Håkan; Schoumans, Jacqueline; Portaankorva, Anne M; Viitanen, Matti; Lindstrand, Anna; Nennesmo, Inger; Graff, Caroline

Acute Vestibular Syndrome Unmasking an RFC1-Spectrum Disorder

急性前庭综合征揭示了RFC1谱系障碍

Verrecchia, Luca; Alm, Victor; Thonberg, Håkan; Lenner, Felix; Paivandy, Aida; Feuk, Lars; Lindstrand, Anna; Nilsson, Daniel; Paucar, Martin

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

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