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

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation

靶向长读长RNA测序用于罕见病诊断和变异解读

Wang, Robert; Wang, Feng; DeBruyne, Nicole; Ji, Xinjun; Engelhardt, Nicole M; Park, Joseph Jee-Hwan; Notaro, Amber; Gaerlan, Samantha; Park, Ryan; Schultz, Matthew J; Clever, Sheila; McCormick, Elizabeth M; Keith, Kelsey; Ng, Bobby G; Kadash-Edmondson, Kathryn E; Freeze, Hudson H; Lam, Christina T; Morava, Eva; Helbig, Ingo; Falk, Marni J; Ganetzky, Rebecca D; Edmondson, Andrew C; Lin, Lan; Xing, Yi

PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes

PGM1 缺乏与患者来源的 iPSC 心肌细胞的肌节和线粒体功能障碍有关

Radenkovic, Silvia; Preston, Graeme; Budhraja, Rohit; Muffels, Irena; Ligezka, Anna; Staff, Nathan P; Hrstka, Ron; Balakrishnan, Bijina; Shah, Rameen; Verberkmoes, Sanne; Shammas, Ibrahim; Bosnyak, Inez; Stiers, Kyle M; Lai, Kent; Beamer, Lesa J; Pandey, Akhilesh; Morava, Eva; Kozicz, Tamas

Reversible Metabolic and Liver Disease in Complex III Deficiency: Novel Variants Expand the Reported UQCRC2-Associated Phenotype

复合物 III 缺陷引起的可逆性代谢和肝脏疾病:新变异扩展了已报道的 UQCRC2 相关表型

Preston, Graeme; Shammas, Ibrahim; Pinto E Vairo, Filippo; Ligezka, Anna; Aschoff, Carlos Alberto de Moura; Poswar, Fabiano; Schwartz, Ida Vanessa D; Kozicz, Tamas; Morava, Eva

Network Hypoactivity in ALG13-CDG: Disrupted Developmental Pathways and E/I Imbalance as Early Drivers of Neurological Features in CDG

ALG13-CDG中的网络活动减弱:发育通路紊乱和兴奋/抑制失衡是CDG神经系统特征的早期驱动因素

Shah, Rameen; Budhraja, Rohit; Radenkovic, Silvia; Preston, Graeme; King, Alexia Tyler; Sabry, Sahar; Bleukx, Charlotte; Shammas, Ibrahim; Young, Lyndsay; Chandran, Jisha; Byeon, Seul Kee; Hrstka, Ronald; Smith, Doughlas Y 4th; Staff, Nathan P; Drake, Richard; Sloan, Steven A; Pandey, Akhilesh; Morava, Eva; Kozicz, Tamas

Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG

常染色体显性遗传STT3A-CDG的扩展临床谱

Al-Shahrani, Hamdan; Szabó, Evelin; Staccone, Caroline; MacDonald, Georgia; Furuta, Yutaka; Schecter, Daniel; Edmondson, Andrew C; McRae, Anne; Baker, Josh; Morava, Eva; Tinker, Rory J

Albumin as a glycoprotein biomarker in congenital disorders of glycosylation

白蛋白作为先天性糖基化障碍中的糖蛋白生物标志物

Garapati, Kishore; Jain, Anu; Joshi, Neha; Sachdeva, Gunveen S; Nam, Dowoon; Saraswat, Mayank; Pasupuleti, Raghavendra Rao; Schultz, Matthew J; Kozicz, Tamas; Morava, Eva; Pandey, Akhilesh

Individual sedentary activities and cognitive function in middle-aged and older adults: A systematic review

中老年人个体久坐活动与认知功能:系统性综述

Chen, Jiatong; Dillon-Rossiter, Kirsten; Grigsby-Duffy, Lily; Morava, Anisa; Novic, Adam; Salmani, Babac; Smith, Siobhan; Prapavessis, Harry; Gardiner, Paul A

Repurposing the HMG-CoA Reductase Inhibitor Atorvastatin for SRD5A3-CDG

将HMG-CoA还原酶抑制剂阿托伐他汀重新用于SRD5A3-CDG的治疗

Daghar, Hiba; Byeon, Seul Kee; Maios, Claudia; Poon, Jennifer; Doyle, James J; Ranatunga, Wasantha; Samarut, Éric; Perlstein, Ethan O; Morava, Eva; Pandey, Akhilesh; Parker, J Alex; Kantautas, Kristin A

Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey

线粒体疾病患者死亡相关因素的特征分析:一项多中心横断面调查

Ivaniuk, Alina; Anselm, Irina A; Bowen, Aaron; Cohen, Bruce H; Eminoglu, Fatma Tuba; Estrella, Jane; Gallagher, Renata C; Ganetzky, Rebecca D; Gannon, Jennifer; Gorman, Grainne S; Greene, Carol; Gropman, Andrea L; Haas, Richard H; Hirano, Michio; Kapoor, Seema; Karaa, Amel; Koenig, Mary Kay; Kornblum, Cornelia; Kose, Engin; Larson, Austin; Lichter-Konecki, Uta; Lopriore, Piervito; Mancuso, Michelangelo; McFarland, Robert; Moe, Aye Myat; Morava, Eva; Ng, Yi Shiau; Saneto, Russell P; Scaglia, Fernando; Sue, Carolyn M; Tarnopolsky, Mark; Walker, Melissa A; Parikh, Sumit; Cheuk-Wing, Fung; Wong, Tsz-Sum; Belaramani, Kiran; Chan, Chun-Kong; Chan, Wing-Ki; Chan, Wai-Lun Larry; Cheung, Hon-Wing; Cheung, Ka-Yin; Chang, Shek-Kwan; Cheung, Sing-Ngai; Cheung, Tsz-Fung; Cheung, Yuk-Fai; Chong, Shuk-Ching Josephine; Chow, Chi-Kwan Jasmine; Chung, Hon-Yin B; Fan, Sin-Ying Florence; Fok, Wai-Ming Joshua; Fong, Ka-Wing; Fung, Tsui-Hang Sharon; Hui, Kwok-Fai; Hui, Ting-Hin; Hui, Joannie; Ko, Chun Hung; Kwan, Min-Chung; Kwok, Mei-Kwan Anne; Kwok, Sung-Shing Jeffrey; Lai, Moon-Sing; Lam, Yau-On; Lam, Ching-Wan; Lau, Ming-Chung; Law, Chun-Yiu Eric; Law, Hiu-Fung; Lee, Wing-Cheong; Hencher Lee, Han-Chih; Leung, Kin-Hang; Leung, Kit-Yan; Li, Siu-Hung; Ling, Tsz-Ki Jacky; Liu, Kam-Tim Timothy; Lo, Fai-Man; Lui, Colin; Luk, Ching-On; Luk, Ho-Ming; Ma, Che-Kwan; Ma, Karen; Ma, Kam-Hung; Mew, Yuen-Ni; Mo, Alex; Hg, Sui-Fun; Poon, Wing-Kit Grace; Sheng, Bun; Szeto, Cheuk-Ling Charing; Tai, Shuk-Mui; Tang, Jing-Liang; Tse, Choi-Ting Alan; Tsung, Li-Yan Lilian; Wong, Ho-Ming June; Wong, Wing-Yin Winnie; Wong, Kwok-Kui; Wong, Suet-Na Sheila; Wong, Chun-Nei Virginia; Wong, Wai-Shan Sammy; Wong, Chi-Kin Felix; Wu, Shun-Ping; Wu, Hiu-Fung Jerome; Yau, Man-Mut; Yau, Kin-Cheong Eric; Yeung, Wai-Lan; Yeung, Hon-Ming Jonas; Yip, Kin-Keung Edwin; Wu, Hui-Jun; Young, Pui-Hong Terence; Yuan, Gao; Yuen, Yuet-Ping Liz; Yuen, Chi-Lap

Midbrain and pallidal iron changes identify patients with REM sleep behaviour disorder and Parkinson's disease

中脑和苍白球铁沉积的变化可以识别患有快速眼动睡眠行为障碍和帕金森病的患者。

Alushaj, Erind; Kuurstra, Alan; Menon, Ravi S; Ganjavi, Hooman; Morava, Anisa; Sharma, Manas; Kashgari, Alia; Barr, Jennifer; Reisman, William; Khan, Ali R; MacDonald, Penny A