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

Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice.

基因疗法挽救了受体表达增强蛋白 6 突变小鼠的视网膜变性

期刊:Human Gene Therapy
影响因子:4
doi:10.1089/hum.2018.078
Zaneveld Smriti Agrawal, Eblimit Aiden, Liang Qingnan, Bertrand Renae, Wu Nathaniel, Liu Hehe, Nguyen Quynh, Zaneveld Jacques, Wang Keqing, Li Yumei, Chen Rui
免疫/内分泌
发表日期：2019
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Utility of patient-specific silicone renal models for planning and rehearsal of complex tumour resections prior to robot-assisted laparoscopic partial nephrectomy

利用患者特异性硅胶肾脏模型进行复杂肿瘤切除术的规划和演练，以辅助机器人辅助腹腔镜部分肾切除术

期刊:Bju International
影响因子:4.4
doi:10.1111/bju.13712
von Rundstedt, Friedrich-Carl; Scovell, Jason M; Agrawal, Smriti; Zaneveld, Jacques; Link, Richard E
肿瘤
肿瘤免疫
发表日期：2017
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Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions

对 Stargardt 黄斑营养不良患者的全面分析揭示了新的基因型-表型相关性和意想不到的诊断修正

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/gim.2014.174
Zaneveld, Jacques; Siddiqui, Sorath; Li, Huajin; Wang, Xia; Wang, Hui; Wang, Keqing; Li, Hui; Ren, Huanan; Lopez, Irma; Dorfman, Allison; Khan, Ayesha; Wang, Feng; Salvo, Jason; Gelowani, Violet; Li, Yumei; Sui, Ruifang; Koenekoop, Robert; Chen, Rui
发表日期：2015
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Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland

对来自北爱尔兰的 82 名视网膜色素变性先证者进行基于下一代测序的分子诊断

期刊:Human Genetics
影响因子:3.6
doi:10.1007/s00439-014-1512-7
Zhao, Li; Wang, Feng; Wang, Hui; Li, Yumei; Alexander, Sharon; Wang, Keqing; Willoughby, Colin E; Zaneveld, Jacques E; Jiang, Lichun; Soens, Zachry T; Earle, Philip; Simpson, David; Silvestri, Giuliana; Chen, Rui
发表日期：2015
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Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients

对67例中国Usher综合征先证者进行全面的分子诊断：中国Usher综合征患者中存在较高的种族特异性突变率

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-015-0329-3
Jiang, Lichun; Liang, Xiaofang; Li, Yumei; Wang, Jing; Zaneveld, Jacques Eric; Wang, Hui; Xu, Shan; Wang, Keqing; Wang, Binbin; Chen, Rui; Sui, Ruifang
发表日期：2015
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A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa.

NEUROD1 基因的纯合错义突变与非综合征型常染色体隐性遗传性视网膜色素变性相关

期刊:Investigative Ophthalmology & Visual Science
影响因子:4.7
doi:10.1167/iovs.14-15382
Wang Feng, Li Huajin, Xu Mingchu, Li Hui, Zhao Li, Yang Lizhu, Zaneveld Jacques E, Wang Keqing, Li Yumei, Sui Ruifang, Chen Rui
其它
发表日期：2014
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Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

基于新一代测序技术的视网膜色素变性分子诊断：新型基因型-表型相关性的鉴定及临床改进

期刊:Human Genetics
影响因子:3.6
doi:10.1007/s00439-013-1381-5
Wang, Feng; Wang, Hui; Tuan, Han-Fang; Nguyen, Duy H; Sun, Vincent; Keser, Vafa; Bowne, Sara J; Sullivan, Lori S; Luo, Hongrong; Zhao, Ling; Wang, Xia; Zaneveld, Jacques E; Salvo, Jason S; Siddiqui, Sorath; Mao, Louise; Wheaton, Dianna K; Birch, David G; Branham, Kari E; Heckenlively, John R; Wen, Cindy; Flagg, Ken; Ferreyra, Henry; Pei, Jacqueline; Khan, Ayesha; Ren, Huanan; Wang, Keqing; Lopez, Irma; Qamar, Raheel; Zenteno, Juan C; Ayala-Ramirez, Raul; Buentello-Volante, Beatriz; Fu, Qing; Simpson, David A; Li, Yumei; Sui, Ruifang; Silvestri, Giuliana; Daiger, Stephen P; Koenekoop, Robert K; Zhang, Kang; Chen, Rui
Sequencing
发表日期：2014
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Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease

眼部基因治疗的曙光：对视网膜疾病分子诊断的意义

期刊:Science China-Life Sciences
影响因子:9.5
doi:10.1007/s11427-013-4443-y
Zaneveld, Jacques; Wang, Feng; Wang, Xia; Chen, Rui
基因治疗
发表日期：2013
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Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa

基于新一代测序技术的中国常染色体隐性遗传性视网膜色素变性患者队列分子诊断

期刊:Investigative Ophthalmology & Visual Science
影响因子:4.7
doi:10.1167/iovs.13-11672
Fu, Qing; Wang, Feng; Wang, Hui; Xu, Fei; Zaneveld, Jacques E; Ren, Huanan; Keser, Vafa; Lopez, Irma; Tuan, Han-Fang; Salvo, Jason S; Wang, Xia; Zhao, Li; Wang, Keqing; Li, Yumei; Koenekoop, Robert K; Chen, Rui; Sui, Ruifang
Sequencing
发表日期：2013
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Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

利用靶向二代测序技术对179例Leber先天性黑蒙和青少年视网膜色素变性患者进行全面的分子诊断

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmedgenet-2013-101558
Wang, Xia; Wang, Hui; Sun, Vincent; Tuan, Han-Fang; Keser, Vafa; Wang, Keqing; Ren, Huanan; Lopez, Irma; Zaneveld, Jacques E; Siddiqui, Sorath; Bowles, Stephanie; Khan, Ayesha; Salvo, Jason; Jacobson, Samuel G; Iannaccone, Alessandro; Wang, Feng; Birch, David; Heckenlively, John R; Fishman, Gerald A; Traboulsi, Elias I; Li, Yumei; Wheaton, Dianna; Koenekoop, Robert K; Chen, Rui
Sequencing
发表日期：2013
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