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

Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration

C19orf44基因的双等位基因功能缺失变异会导致视网膜退化

Hussain, Hafiz Muhammad Jafar; Meng, Wang; Li, Yumei; Firasat, Sabika; Pennesi, Mark E; Gorin, Michael B; Guan, Bin; Clark, Rebecca Lynn; Fale-Olsen, Emma; Al Rawi, Ranya; Agather, Aime; Huryn, Laryssa A; Yang, Paul; Matynia, Anna; Chen, Rui

ABCA4-mutant human retinal organoids sequencing reveals organoids application in inherited retinal diseases

ABCA4突变型人类视网膜类器官测序揭示了类器官在遗传性视网膜疾病中的应用

Bao, Yourong; Soh, Sujung; Li, Jean; Zuo, Zhen; Ferdous, Salma; Qian, Xinye; Li, Jin; Lu, Jiaxiong; Cheng, Xuesen; Matynia, Anna; Li, Yumei; Chen, Rui

Comparison of the Working Alliance in Blended Cognitive Behavioral Therapy and Treatment as Usual for Depression in Europe: Secondary Data Analysis of the E-COMPARED Randomized Controlled Trial

欧洲抑郁症混合认知行为疗法与常规治疗中工作联盟的比较:E-COMPARED随机对照试验的二次数据分析

Doukani, Asmae; Quartagno, Matteo; Sera, Francesco; Free, Caroline; Kakuma, Ritsuko; Riper, Heleen; Kleiboer, Annet; Cerga-Pashoja, Arlinda; van Schaik, Anneke; Botella, Cristina; Berger, Thomas; Chevreul, Karine; Matynia, Maria; Krieger, Tobias; Hazo, Jean-Baptiste; Draisma, Stasja; Titzler, Ingrid; Topooco, Naira; Mathiasen, Kim; Vernmark, Kristofer; Urech, Antoine; Maj, Anna; Andersson, Gerhard; Berking, Matthias; Baños, Rosa María; Araya, Ricardo

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

通过对105个疾病相关基因进行测序,揭示不完全外显率在黄斑病变中的作用

Hitti-Malin, Rebekkah J; Panneman, Daan M; Corradi, Zelia; Boonen, Erica G M; Astuti, Galuh; Dhaenens, Claire-Marie; Stöhr, Heidi; Weber, Bernhard H F; Sharon, Dror; Banin, Eyal; Karali, Marianthi; Banfi, Sandro; Ben-Yosef, Tamar; Glavač, Damjan; Farrar, G Jane; Ayuso, Carmen; Liskova, Petra; Dudakova, Lubica; Vajter, Marie; Ołdak, Monika; Szaflik, Jacek P; Matynia, Anna; Gorin, Michael B; Kämpjärvi, Kati; Bauwens, Miriam; De Baere, Elfride; Hoyng, Carel B; Li, Catherina H Z; Klaver, Caroline C W; Inglehearn, Chris F; Fujinami, Kaoru; Rivolta, Carlo; Allikmets, Rando; Zernant, Jana; Lee, Winston; Podhajcer, Osvaldo L; Fakin, Ana; Sajovic, Jana; AlTalbishi, Alaa; Valeina, Sandra; Taurina, Gita; Vincent, Andrea L; Roberts, Lisa; Ramesar, Raj; Sartor, Giovanna; Luppi, Elena; Downes, Susan M; van den Born, L Ingeborgh; McLaren, Terri L; De Roach, John N; Lamey, Tina M; Thompson, Jennifer A; Chen, Fred K; Tracewska, Anna M; Kamakari, Smaragda; Sallum, Juliana Maria Ferraz; Bolz, Hanno J; Kayserili, Hülya; Roosing, Susanne; Cremers, Frans P M

Preservation of Intrinsically Photosensitive Retinal Ganglion Cells (ipRGCs) in Late Adult Mice: Implications as a Potential Biomarker for Early Onset Ocular Degenerative Diseases

成年小鼠视网膜固有光敏神经节细胞(ipRGCs)的保存:作为早期眼部退行性疾病潜在生物标志物的意义

Matynia, Anna; Recio, Brandy S; Myers, Zachary; Parikh, Sachin; Goit, Rajesh Kumar; Brecha, Nicholas C; Pérez de Sevilla Müller, Luis

Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases

利用计算机模拟工具识别显性遗传性视网膜疾病致病变异的比较分析

Brock, Daniel C; Wang, Meng; Hussain, Hafiz Muhammad Jafar; Rauch, David E; Marra, Molly; Pennesi, Mark E; Yang, Paul; Everett, Lesley; Ajlan, Radwan S; Colbert, Jason; Porto, Fernanda Belga Ottoni; Matynia, Anna; Gorin, Michael B; Koenekoop, Robert K; Lopez, Irma; Sui, Ruifang; Zou, Gang; Li, Yumei; Chen, Rui

Epidemiology of Streptococcus pyogenes upper respiratory tract infections in Poland (2003-2017)

波兰化脓性链球菌上呼吸道感染的流行病学研究(2003-2017)

Sitkiewicz, Izabela; Borek, Anna; Gryko, Monika; Karpińska, Aneta; Kozińska, Aleksandra; Obszańska, Katarzyna; Wilemska-Dziaduszycka, Joanna; Walory, Jarosław; Bańska, Agata; Belkiewicz, Katarzyna; Foryś, Małgorzata; Gołębiewska, Agnieszka; Hryniewicz, Waleria; Kadłubowski, Marcin; Kiedrowska, Marlena; Klarowicz, Anna; Matynia, Bożena; Ronkiewicz, Patrycja; Szczypa, Katarzyna; Waśko, Izabela; Wawszczak, Monika; Wróbel-Pawelczyk, Izabela; Zieniuk, Bartłomiej

Long wavelength light reduces the negative consequences of dim light at night

长波长光可以减轻夜间光线昏暗带来的负面影响。

Wang, Huei-Bin; Zhou, David; Luk, Shu Hon Christopher; In Cha, Hye; Mac, Amanda; Chae, Rim; Matynia, Anna; Harrison, Ben; Afshari, Sina; Block, Gene D; Ghiani, Cristina A; Colwell, Christopher S

Systematic assessment of the contribution of structural variants to inherited retinal diseases

系统评估结构变异对遗传性视网膜疾病的影响

Wen, Shu; Wang, Meng; Qian, Xinye; Li, Yumei; Wang, Keqing; Choi, Jongsu; Pennesi, Mark E; Yang, Paul; Marra, Molly; Koenekoop, Robert K; Lopez, Irma; Matynia, Anna; Gorin, Michael; Sui, Ruifang; Yao, Fengxia; Goetz, Kerry; Porto, Fernanda Belga Ottoni; Chen, Rui

Membrane Attack Complex Mediates Retinal Pigment Epithelium Cell Death in Stargardt Macular Degeneration

膜攻击复合物介导 Stargardt 黄斑变性中的视网膜色素上皮细胞死亡

Eunice Sze Yin Ng, Nermin Kady, Jane Hu, Arpita Dave, Zhichun Jiang, Jacqueline Pei, Michael B Gorin, Anna Matynia, Roxana A Radu