日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
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2026
影响因子:
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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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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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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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