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

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13

RPL13相关脊椎骨骺干骺端发育不良的临床、遗传和结构描述表明eL13具有核糖体外功能

期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-023-00380-x
Jacob, Prince; Lindelöf, Hillevi; Rustad, Cecilie F; Sutton, Vernon Reid; Moosa, Shahida; Udupa, Prajna; Hammarsjö, Anna; Bhavani, Gandham SriLakshmi; Batkovskyte, Dominyka; Tveten, Kristian; Dalal, Ashwin; Horemuzova, Eva; Nordgren, Ann; Tham, Emma; Shah, Hitesh; Merckoll, Else; Orellana, Laura; Nishimura, Gen; Girisha, Katta M; Grigelioniene, Giedre
发育与干细胞
发表日期：2023
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Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up

病例报告：LMX1B基因倒位——瑞典一个家族中指甲髌骨综合征的新病因及长期随访

期刊:Frontiers in Endocrinology
影响因子:4.6
doi:10.3389/fendo.2022.862908
Lindelöf, Hillevi; Horemuzova, Eva; Voss, Ulrika; Nordgren, Ann; Grigelioniene, Giedre; Hammarsjö, Anna
发表日期：2022
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High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

利用大规模并行基因组测序、结构变异筛查和RNA分析，在骨骼纤毛病诊断中获得了较高的诊断率

期刊:Journal of Human Genetics
影响因子:2.5
doi:10.1038/s10038-021-00925-x
Hammarsjö, Anna; Pettersson, Maria; Chitayat, David; Handa, Atsuhiko; Anderlid, Britt-Marie; Bartocci, Marco; Basel, Donald; Batkovskyte, Dominyka; Beleza-Meireles, Ana; Conner, Peter; Eisfeldt, Jesper; Girisha, Katta M; Chung, Brian Hon-Yin; Horemuzova, Eva; Hyodo, Hironobu; Korņejeva, Liene; Lagerstedt-Robinson, Kristina; Lin, Angela E; Magnusson, Måns; Moosa, Shahida; Nayak, Shalini S; Nilsson, Daniel; Ohashi, Hirofumi; Ohashi-Fukuda, Naoko; Stranneheim, Henrik; Taylan, Fulya; Traberg, Rasa; Voss, Ulrika; Wirta, Valtteri; Nordgren, Ann; Nishimura, Gen; Lindstrand, Anna; Grigelioniene, Giedre
发表日期：2021
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Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

人类骨骼发育不良中 microRNA-140 的功能获得性突变

期刊:Nature Medicine
影响因子:58.7
doi:10.1038/s41591-019-0353-2
Giedre Grigelioniene #, Hiroshi I Suzuki #, Fulya Taylan, Fatemeh Mirzamohammadi, Zvi U Borochowitz, Ugur M Ayturk, Shay Tzur, Eva Horemuzova, Anna Lindstrand, Mary Ann Weis, Gintautas Grigelionis, Anna Hammarsjö, Elin Marsk, Ann Nordgren, Magnus Nordenskjöld, David R Eyre, Matthew L Warman, Gen Nis
信号转导
WB
Human
发表日期：2019
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Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

Alu-Alu 介导的 IFT81 和 MATN3 基因内重复与骨骼发育不良有关

期刊:Human Mutation
影响因子:3.3
doi:10.1002/humu.23605
Maria Pettersson, Raquel Vaz, Anna Hammarsjö, Jesper Eisfeldt, Claudia M B Carvalho, Wolfgang Hofmeister, Emma Tham, Eva Horemuzova, Ulrika Voss, Gen Nishimura, Bo Klintberg, Ann Nordgren, Daniel Nilsson, Giedre Grigelioniene, Anna Lindstrand
信号转导
发表日期：2018
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FAM111A mutations result in hypoparathyroidism and impaired skeletal development

FAM111A基因突变会导致甲状旁腺功能减退和骨骼发育障碍。

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.04.020
Unger, Sheila; Górna, Maria W; Le Béchec, Antony; Do Vale-Pereira, Sonia; Bedeschi, Maria Francesca; Geiberger, Stefan; Grigelioniene, Giedre; Horemuzova, Eva; Lalatta, Faustina; Lausch, Ekkehart; Magnani, Cinzia; Nampoothiri, Sheela; Nishimura, Gen; Petrella, Duccio; Rojas-Ringeling, Francisca; Utsunomiya, Akari; Zabel, Bernhard; Pradervand, Sylvain; Harshman, Keith; Campos-Xavier, Belinda; Bonafé, Luisa; Superti-Furga, Giulio; Stevenson, Brian; Superti-Furga, Andrea
发育与干细胞
发表日期：2013
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