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

From enrichment to interpretation: PS4-driven reclassification in Taiwanese inherited retinal degeneration

从富集到解读：PS4驱动的台湾遗传性视网膜变性重新分类

期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-026-00923-0
Huang, Yu-Shu; Lin, Chien-Yu; Chen, Yu-An; Lee, Chieh-Yu; Yang, Chang-Hao; Hsu, Jacob Shujui; Chen, Ta-Ching; Chen, Pei-Lung
发表日期：2026
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Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight

遗传性视网膜变性中的隐性剪接变异：发现与功能解析

期刊:Investigative Ophthalmology & Visual Science
影响因子:4.7
doi:10.1167/iovs.66.13.12
Huang, Yu-Shu; Lu, Wen-Ting; Chiu, I-Hsuan; Chien, Pei-Miao; Chen, Yu-An; Lin, Chien-Yu; Yang, Chang-Hao; Yang, Chung-May; Lin, Chao-Wen; Hsu, Jacob Shujui; Chen, Pei-Lung; Chen, Ta-Ching
发表日期：2025
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Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools

简化变异分类：不同注释工具中 ClinVar 致病性变异的命名和语法差异

期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-025-00778-x
Chen, Yu-An; Yuan, Tzu-Hang; Huang, Jia-Hsin; Wang, Yu-Bin; Hung, Tzu-Mao; Chen, Chien-Yu; Chen, Pei-Lung; Hsu, Jacob Shujui
发表日期：2025
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Comparisons of performances of structural variants detection algorithms in solitary or combination strategy

比较结构变异检测算法在单独策略和组合策略下的性能

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0314982
Duan, De-Min; Cheng, Chinyi; Huang, Yu-Shu; Chung, An-Ko; Chen, Pin-Xuan; Chen, Yu-An; Hsu, Jacob Shujui; Chen, Pei-Lung
发表日期：2025
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Next-Generation Integrated Sequencing Identifies Poor Prognostic Factors in Patients with MYD88-Mutated Chronic Lymphocytic Leukemia in Taiwan

台湾新一代整合测序技术揭示MYD88突变型慢性淋巴细胞白血病患者预后不良因素

期刊:Pathobiology
影响因子:2
doi:10.1159/000541709
Huang, Ying-Jung; Lim, Jing Quan; Hsu, Jacob Shujui; Kuo, Ming-Chung; Wang, Po-Nan; Kao, Hsiao-Wen; Wu, Jin-Hou; Chen, Chiu-Chen; Tsai, Shih-Feng; Ong, Choon Kiat; Shih, Lee-Yung
白血病
细胞生物学
MYD88
Sequencing
发表日期：2025
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Complete genomic profiles of 1496 Taiwanese reveal curated medical insights

对1496名台湾人的完整基因组分析揭示了精心整理的医学见解

期刊:Journal of Advanced Research
影响因子:13
doi:10.1016/j.jare.2023.12.018
Hsu, Jacob Shujui; Wu, Dung-Chi; Shih, Shang-Hung; Liu, Jen-Feng; Tsai, Ya-Chen; Lee, Tung-Lin; Chen, Wei-An; Tseng, Yi-Hsuan; Lo, Yi-Chung; Lin, Hong-Ye; Chen, Yi-Chieh; Chen, Jing-Yi; Chou, Ting-Hsuan; Chang, Darby Tien-Hao; Su, Ming Wei; Guo, Wei-Hong; Mao, Hsin-Hsiang; Chen, Chien-Yu; Chen, Pei-Lung
发表日期：2024
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Genetic complexity of killer-cell immunoglobulin-like receptor genes in human pangenome assemblies

人类泛基因组组装中杀伤细胞免疫球蛋白样受体基因的遗传复杂性

期刊:Genome Research
影响因子:5.5
doi:10.1101/gr.278358.123
Hung, Tsung-Kai; Liu, Wan-Chi; Lai, Sheng-Kai; Chuang, Hui-Wen; Lee, Yi-Che; Lin, Hong-Ye; Hsu, Chia-Lang; Chen, Chien-Yu; Yang, Ya-Chien; Hsu, Jacob Shujui; Chen, Pei-Lung
信号转导
细胞生物学
免疫/内分泌
发表日期：2024
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A novel framework for human leukocyte antigen (HLA) genotyping using probe capture-based targeted next-generation sequencing and computational analysis

一种利用探针捕获靶向二代测序和计算分析进行人类白细胞抗原（HLA）基因分型的新框架

期刊:Computational and Structural Biotechnology Journal
影响因子:4.1
doi:10.1016/j.csbj.2024.03.030
Lai, Sheng-Kai; Luo, Allen Chilun; Chiu, I-Hsuan; Chuang, Hui-Wen; Chou, Ting-Hsuan; Hung, Tsung-Kai; Hsu, Jacob Shujui; Chen, Chien-Yu; Yang, Wei-Shiung; Yang, Ya-Chien; Chen, Pei-Lung
细胞生物学
发表日期：2024
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Cochlear Implantation Outcomes in Patients with Auditory Neuropathy Spectrum Disorder of Genetic and Non-Genetic Etiologies: A Multicenter Study

遗传性和非遗传性听神经病谱系障碍患者人工耳蜗植入疗效：一项多中心研究

期刊:Biomedicines
影响因子:3.9
doi:10.3390/biomedicines10071523
Lin, Pei-Hsuan; Wu, Hung-Pin; Wu, Che-Ming; Chiang, Yu-Ting; Hsu, Jacob Shujui; Tsai, Cheng-Yu; Wang, Han; Tseng, Li-Hui; Chen, Pey-Yu; Yang, Ting-Hua; Hsu, Chuan-Jen; Chen, Pei-Lung; Wu, Chen-Chi; Liu, Tien-Chen
发表日期：2022
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Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing

利用新一代测序技术在瓦尔登堡综合征中鉴定出PAX3、SOX10、EDNRB和MITF基因的9个新变异。

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.2082
Lee, Chen-Yu; Lo, Ming-Yu; Chen, You-Mei; Lin, Pei-Hsuan; Hsu, Chuan-Jen; Chen, Pei-Lung; Wu, Chen-Chi; Hsu, Jacob Shujui
Sequencing
MITF
SOX
PAX3
发表日期：2022
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