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

Targeted gene sequencing and hearing follow-up in 7501 newborns reveals an improved strategy for newborn hearing screening

对7501名新生儿进行靶向基因测序和听力随访，揭示了一种改进的新生儿听力筛查策略

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01711-x
Hao, Chanjuan; Hu, Xuyun; Guo, Ruolan; Qi, Zhan; Jin, Feng; Zhang, Xiaofen; Xie, Limin; Liu, Haihong; Liu, Yuanhu; Ni, Xin; Li, Wei
发表日期：2025
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Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns

针对中国新生儿的基因筛查，旨在识别携带者状态和早发疾病风险

期刊:
影响因子:
doi:10.1038/s43856-025-01208-8
Hao, Chanjuan; Hu, Xuyun; Guo, Ruolan; Qi, Zhan; Xie, Limin; Jin, Feng; Li, Huimin; Ni, Xin; Li, Wei
发表日期：2025
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Case report: Clinical characteristics and Genetical analysis of HSD11B2 in three Chinese children with apparent mineralocorticoid excess: a case series

病例报告：三例中国儿童表观盐皮质激素过多症的临床特征及HSD11B2基因分析：病例系列

期刊:Frontiers in Endocrinology
影响因子:4.6
doi:10.3389/fendo.2024.1491825
Ding, Yuan; Cheng, Ming; Cao, Bingyan; Liu, Min; Hu, Xuyun; Wu, Di
表观遗传
免疫/内分泌
发表日期：2024
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Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review

FARSA基因双等位基因变异引起的苯丙氨酰-tRNA合成酶缺乏症及文献综述

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-023-01662-0
Guo, Ruolan; Chen, Yuanying; Hu, Xuyun; Qi, Zhan; Guo, Jun; Li, Yuchuan; Hao, Chanjuan
发表日期：2023
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Retraction Notice to: Silencing of Long Non-coding RNA HOTTIP Reduces Inflammation in Rheumatoid Arthritis by Demethylation of SFRP1

撤稿声明：沉默长链非编码RNA HOTTIP通过SFRP1去甲基化减轻类风湿性关节炎的炎症

期刊:Molecular Therapy-Nucleic Acids
影响因子:6.1
doi:10.1016/j.omtn.2022.05.014
Hu, Xumin; Tang, Jianhua; Hu, Xuyun; Bao, Peng; Deng, Weixi; Wu, Jionglin; Liang, Yuwei; Chen, Zhipeng; Gao, Liangbin; Tang, Yong
炎症
表观遗传
炎症/感染
Immunology/Inflammation
关节炎
发表日期：2022
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Novel pathogenic variants in KIT gene in three Chinese piebaldism patients

三名中国白斑病患者的KIT基因中发现新的致病变异

期刊:Frontiers in Medicine
影响因子:3
doi:10.3389/fmed.2022.1040747
Wang, Chen; Zhang, Yingzi; Hu, Xuyun; Wang, Lijuan; Xu, Zhe; Xing, Huan
KIT
发表日期：2022
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Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.

鉴定和功能分析导致硫胺素代谢功能障碍综合征 4 的新型 SLC25A19 变异体

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-021-02028-4
Chen Yuanying, Fang Boliang, Hu Xuyun, Guo Ruolan, Guo Jun, Fang Kenan, Ni Jingwen, Li Wei, Qian Suyun, Hao Chanjuan
代谢
发表日期：2021
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Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China

全外显子组测序在中国儿科重症监护病房单基因疾病中的临床应用

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2021.677699
Liu, Yingchao; Hao, Chanjuan; Li, Kechun; Hu, Xuyun; Gao, Hengmiao; Zeng, Jiansheng; Guo, Ruolan; Liu, Jun; Guo, Jun; Li, Zheng; Qi, Zhan; Jia, Xinlei; Li, Wei; Qian, Suyun
发表日期：2021
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Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders

全外显子组测序和拷贝数变异测序的平行检测提高了罕见儿科疾病的诊断率

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2020.00473
Hu, Xuyun; Guo, Ruolan; Guo, Jun; Qi, Zhan; Li, Wei; Hao, Chanjuan
发表日期：2020
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A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency

通过 CNV-Seq 在一名患有脑-肺-甲状腺综合征、牙齿缺失和免疫缺陷的患者中发现了一种新的 14q13.1-21.1 缺失

期刊:Molecular Cytogenetics
影响因子:1.4
doi:10.1186/s13039-019-0463-z
Hu, Xuyun; Liu, Jun; Guo, Ruolan; Guo, Jun; Zhao, Zhipeng; Li, Wei; Xu, Baoping; Hao, Chanjuan
免疫/内分泌
神经科学
发表日期：2019
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