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

Phenotypic variability in a large kindred with spastic paraplegia associated with a novel REEP1 variant

在一个患有痉挛性截瘫的大型家族中观察到的表型变异与一种新的 REEP1 变异相关

Hjartarson, Helgi Thor; Skott, Humberto; Granberg, Tobias; Paucar, Martin

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders

具有全面变异调用的基因组测序可识别出大部分患有共济失调和/或神经肌肉疾病的个体中的结构变异和重复扩增

Marlene Ek, Daniel Nilsson, Martin Engvall, Helena Malmgren, Håkan Thonberg, Maria Pettersson, Britt-Marie Anderlid, Anna Hammarsjö, Hafdis T Helgadottir, Snjolaug Arnardottir, Karin Naess, Inger Nennesmo, Martin Paucar, Helgi Thor Hjartarson, Rayomand Press, Göran Solders, Thomas Sejersen, Anna Lin

Disease Modifying Therapies for the Management of Children with Spinal Muscular Atrophy (5q SMA): An Update on the Emerging Evidence

脊髓性肌萎缩症(5q SMA)患儿疾病修饰疗法:最新证据进展

Hjartarson, Helgi Thor; Nathorst-Böös, Kristofer; Sejersen, Thomas

Author Correction: GWAS of thyroid stimulating hormone highlights the pleiotropic effects and inverse association with thyroid cancer

作者更正:促甲状腺激素的全基因组关联研究突显了其多效性以及与甲状腺癌的负相关性。

Zhou, Wei; Brumpton, Ben; Kabil, Omer; Gudmundsson, Julius; Thorleifsson, Gudmar; Weinstock, Josh; Zawistowski, Matthew; Nielsen, Jonas B; Chaker, Layal; Medici, Marco; Teumer, Alexander; Naitza, Silvia; Sanna, Serena; Schultheiss, Ulla T; Cappola, Anne; Karjalainen, Juha; Kurki, Mitja; Oneka, Morgan; Taylor, Peter; Fritsche, Lars G; Graham, Sarah E; Wolford, Brooke N; Overton, William; Rasheed, Humaira; Haug, Eirin B; Gabrielsen, Maiken E; Skogholt, Anne Heidi; Surakka, Ida; Davey Smith, George; Pandit, Anita; Roychowdhury, Tanmoy; Hornsby, Whitney E; Jonasson, Jon G; Senter, Leigha; Liyanarachchi, Sandya; Ringel, Matthew D; Xu, Li; Kiemeney, Lambertus A; He, Huiling; Netea-Maier, Romana T; Mayordomo, Jose I; Plantinga, Theo S; Hrafnkelsson, Jon; Hjartarson, Hannes; Sturgis, Erich M; Palotie, Aarno; Daly, Mark; Citterio, Cintia E; Arvan, Peter; Brummett, Chad M; Boehnke, Michael; de la Chapelle, Albert; Stefansson, Kari; Hveem, Kristian; Willer, Cristen J; Åsvold, Bjørn Olav

GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer

促甲状腺激素的全基因组关联研究(GWAS)突显了其多效性以及与甲状腺癌的负相关性。

Zhou, Wei; Brumpton, Ben; Kabil, Omer; Gudmundsson, Julius; Thorleifsson, Gudmar; Weinstock, Josh; Zawistowski, Matthew; Nielsen, Jonas B; Chaker, Layal; Medici, Marco; Teumer, Alexander; Naitza, Silvia; Sanna, Serena; Schultheiss, Ulla T; Cappola, Anne; Karjalainen, Juha; Kurki, Mitja; Oneka, Morgan; Taylor, Peter; Fritsche, Lars G; Graham, Sarah E; Wolford, Brooke N; Overton, William; Rasheed, Humaira; Haug, Eirin B; Gabrielsen, Maiken E; Skogholt, Anne Heidi; Surakka, Ida; Davey Smith, George; Pandit, Anita; Roychowdhury, Tanmoy; Hornsby, Whitney E; Jonasson, Jon G; Senter, Leigha; Liyanarachchi, Sandya; Ringel, Matthew D; Xu, Li; Kiemeney, Lambertus A; He, Huiling; Netea-Maier, Romana T; Mayordomo, Jose I; Plantinga, Theo S; Hrafnkelsson, Jon; Hjartarson, Hannes; Sturgis, Erich M; Palotie, Aarno; Daly, Mark; Citterio, Cintia E; Arvan, Peter; Brummett, Chad M; Boehnke, Michael; de la Chapelle, Albert; Stefansson, Kari; Hveem, Kristian; Willer, Cristen J; Åsvold, Bjørn Olav

Assessing thyroid cancer risk using polygenic risk scores

利用多基因风险评分评估甲状腺癌风险

Liyanarachchi, Sandya; Gudmundsson, Julius; Ferkingstad, Egil; He, Huiling; Jonasson, Jon G; Tragante, Vinicius; Asselbergs, Folkert W; Xu, Li; Kiemeney, Lambertus A; Netea-Maier, Romana T; Mayordomo, Jose I; Plantinga, Theo S; Hjartarson, Hannes; Hrafnkelsson, Jon; Sturgis, Erich M; Brock, Pamela; Nabhan, Fadi; Thorleifsson, Gudmar; Ringel, Matthew D; Stefansson, Kari; de la Chapelle, Albert

International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita

国际多学科合作,旨在对先天性多发性关节挛缩症进行带注释的定义

Dahan-Oliel, Noémi; Cachecho, Sarah; Barnes, Douglas; Bedard, Tanya; Davison, Ann M; Dieterich, Klaus; Donohoe, Maureen; Fąfara, Alicja; Hamdy, Reggie; Hjartarson, Helgi T; S Hoffman, Naimisha; Kimber, Eva; Komolkin, Igor; Lester, Ruth; Pontén, Eva; van Bosse, Harold J P; Hall, Judith G

The clinical effect of an unloader brace on patients with osteoarthritis of the knee, a randomized placebo controlled trial with one year follow up

一项为期一年的随机安慰剂对照试验,研究了卸载支具对膝骨关节炎患者的临床疗效。

Hjartarson, Hjörtur F; Toksvig-Larsen, Sören

Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature

男性戈尔茨综合征:一例携带新型PORCN变异的男性患者的临床报告及文献综述

Frisk, Sofia; Grandpeix-Guyodo, Catherine; Popovic Silwerfeldt, Karin; Hjartarson, Helgi Thor; Chatzianastassiou, Dimitris; Magnusson, Irina; Laurell, Tobias; Nordgren, Ann

Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease

对血脂有显著影响的变异体以及胆固醇和甘油三酯在冠心病中的作用

Helgadottir, Anna; Gretarsdottir, Solveig; Thorleifsson, Gudmar; Hjartarson, Eirikur; Sigurdsson, Asgeir; Magnusdottir, Audur; Jonasdottir, Aslaug; Kristjansson, Helgi; Sulem, Patrick; Oddsson, Asmundur; Sveinbjornsson, Gardar; Steinthorsdottir, Valgerdur; Rafnar, Thorunn; Masson, Gisli; Jonsdottir, Ingileif; Olafsson, Isleifur; Eyjolfsson, Gudmundur I; Sigurdardottir, Olof; Daneshpour, Maryam S; Khalili, Davood; Azizi, Fereidoun; Swinkels, Dorine W; Kiemeney, Lambertus; Quyyumi, Arshed A; Levey, Allan I; Patel, Riyaz S; Hayek, Salim S; Gudmundsdottir, Ingibjorg J; Thorgeirsson, Gudmundur; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel F; Holm, Hilma; Stefansson, Kari