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

Widespread naturally variable human exons aid genetic interpretation

广泛存在的天然变异的人类外显子有助于基因解读

期刊:Nature Communications
影响因子:15.7
doi:10.1038/s41467-025-65476-7
Jacobs, Hannah N; Gorissen, Bram L; Guez, Jeremy; Kanai, Masahiro; Gupta, Kavi; Finucane, Hilary K; Karczewski, Konrad J; Burge, Christopher B
发表日期：2025
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Sequence-dependent and -independent effects of intron-mediated enhancement learned from thousands of random introns

从数千个随机内含子中学习到的内含子介导增强的序列依赖性和非序列依赖性效应

期刊:Nucleic Acids Research
影响因子:13.1
doi:10.1093/nar/gkaf097
Kowal, Emma J K; Sakai, Yuta; McGurk, Michael P; Pasetsky, Zoe J; Burge, Christopher B
发表日期：2025
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Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease

对 8040 名未确诊的罕见病患者进行系统性致病启动子和非翻译区变异的鉴定

期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-025-01464-2
Martin-Geary, Alexandra C; Blakes, Alexander J M; Dawes, Ruebena; Findlay, Scott D; Lord, Jenny; Dong, Shan; Walker, Susan; Talbot-Martin, Jonathan; Wieder, Nechama; D'Souza, Elston N; Fernandes, Maria; Hilton, Sarah; Lahiri, Nayana; Campbell, Christopher; Jenkinson, Sarah; DeGoede, Christian G E L; Anderson, Emily R; Candler, Toby; Firth, Helen; Burge, Christopher B; Sanders, Stephan J; Ellingford, Jamie; Baralle, Diana; Banka, Siddharth; Whiffin, Nicola
发表日期：2025
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A splice-switching antisense oligonucleotide approach for pediatric genetic epilepsies

一种用于治疗儿童遗传性癫痫的剪接转换反义寡核苷酸方法

期刊:
影响因子:
doi:10.1101/2025.10.22.683934
Dame, Haley B; Kopalle, Hema; Miñana, Belen; Klaft, Zin; Fahey, Jaclyn B; McWatters, David C; Rao, Vama; Suresh, Rushil; Aigner, Stefan; Hammer, Michael F; Yuskaitis, Christopher J; Wong, Megan; Teaney, Nicole; Zhang, Crystal; Thompson, Mike; Lehner, Ben; Bennett, C Frank; Valcárcel, Juan; Yeo, Gene W; Burge, Christopher B; Dulla, Chris G; Oudin, Madeleine J
癫痫
神经科学
发表日期：2025
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Quantifying negative selection in human 3' UTRs uncovers constrained targets of RNA-binding proteins

对人类3'非翻译区负选择的定量分析揭示了RNA结合蛋白的受限靶标

期刊:Nature Communications
影响因子:15.7
doi:10.1038/s41467-023-44456-9
Findlay, Scott D; Romo, Lindsay; Burge, Christopher B
发表日期：2024
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An interpretable model of pre-mRNA splicing for animal and plant genes

动植物基因前体mRNA剪接的可解释模型

期刊:Science Advances
影响因子:12.5
doi:10.1126/sciadv.adn1547
McCue, Kayla; Burge, Christopher B
发表日期：2024
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Improved modeling of RNA-binding protein motifs in an interpretable neural model of RNA splicing

改进RNA剪接可解释神经模型中RNA结合蛋白基序的建模

期刊:Genome Biology
影响因子:9.4
doi:10.1186/s13059-023-03162-x
Gupta, Kavi; Yang, Chenxi; McCue, Kayla; Bastani, Osbert; Sharp, Phillip A; Burge, Christopher B; Solar-Lezama, Armando
发表日期：2024
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Regulatory features aid interpretation of 3'UTR variants

调控特征有助于解读3'UTR变异

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2023.12.017
Romo, Lindsay; Findlay, Scott D; Burge, Christopher B
信号转导
发表日期：2024
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Regulatory features aid interpretation of 3'UTR Variants

调控特征有助于解读 3'UTR 变异

期刊:
影响因子:
doi:10.1101/2023.08.01.551549
Romo, Lindsay; Findlay, Scott D; Burge, Christopher B
信号转导
发表日期：2023
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Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

对 8,040 名未确诊的罕见病患者进行系统性疾病致病启动子和非翻译区变异的鉴定

期刊:
影响因子:
doi:10.1101/2023.09.12.23295416
Martin-Geary, Alexandra C; Blakes, Alexander J M; Dawes, Ruebena; Findlay, Scott D; Lord, Jenny; Walker, Susan; Talbot-Martin, Jonathan; Wieder, Nechama; D'Souza, Elston N; Fernandes, Maria; Hilton, Sarah; Lahiri, Nayana; Campbell, Christopher; Jenkinson, Sarah; DeGoede, Christian G E L; Anderson, Emily R; Burge, Christopher B; Sanders, Stephan J; Ellingford, Jamie; Baralle, Diana; Banka, Siddharth; Whiffin, Nicola
发表日期：2023
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