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

Identification and functional analysis of a novel TRAPPC2 intronic variant in a four-generation Chinese pedigree with SEDT

对一个患有SEDT的四代中国家系中一种新的TRAPPC2内含子变异进行鉴定和功能分析

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2026.1763609
Lyu, Yongfen; Xu, Wuhen; Xu, Bin; Tang, Xiaojun; Xiao, Man; Lan, Xiaoping; Yang, Yongchen; Song, Xiaozhen; Wu, Shengnan
APP
发表日期：2026
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Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders

三重外显子组测序在儿童神经发育障碍诊断中的应用价值

期刊:Jama Network Open
影响因子:9.7
doi:10.1001/jamanetworkopen.2025.1807
Lan, Xiaoping; Tang, Xiaojun; Weng, Wenhao; Xu, Wuhen; Song, Xiaozhen; Yang, Yongchen; Sun, Hong; Ye, Haiyun; Zhang, Hong; Yu, Guangjun; Wu, Shengnan
发育与干细胞
神经科学
发表日期：2025
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Identification of a VHL germline deletion in a family with Von Hippel-Lindau syndrome using MLPA-NGS

利用MLPA-NGS技术鉴定Von Hippel-Lindau综合征家族中的VHL种系缺失

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-025-02252-y
Yang, Yongchen; Ren, Xiaolan; Xia, Chaoran; Zhang, Ying; Song, Xiaozhen; Tang, Xiaojun; Du, Chengkan; Xu, Wuhen; Weng, Wenhao
VHL
发表日期：2025
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Liraglutide use in pediatric type 2 familial partial lipodystrophy caused by LMNA mutation: a case report

利拉鲁肽用于治疗LMNA基因突变引起的儿童2型家族性部分脂肪营养不良：病例报告

期刊:BMC Pediatrics
影响因子:2
doi:10.1186/s12887-025-05886-0
Li, Youran; Yu, Ronghua; Song, Ting; Xiao, Yongmei; Xu, Wuhen; Zhang, Ting; Li, Xiaolu
发表日期：2025
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The precise molecular diagnosis of novel GLDC compound heterozygous variants highlights the benefits for a Chinese family with nonketotic hyperglycinemia

对新型GLDC复合杂合变异的精确分子诊断凸显了其对中国非酮症高甘氨酸血症家庭的益处

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2025.101209
Yuan, Fang; Song, Xiaozhen; Yin, Rongrong; Lan, Xiaoping; Sun, Jingjing; Tang, Xiaojun; Xu, Wuhen; Hu, Shaohua; Xiao, Man; Zhang, Hong; Weng, Wenhao; Zhang, Yuanfeng; Wu, Shengnan
发表日期：2025
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[Association between Y chromosome microdeletions and tes-ticular development in male pediatric patients with congenital reproductive system diseases]

[Y染色体微缺失与先天性生殖系统疾病男性患儿睾丸发育的关联]

期刊:Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences
影响因子:
doi:10.3724/zdxbyxb-2025-0146
Liang, Yan; Lyu, Yiqing; Huang, Yichen; Li, Pin; Xu, Wuhen; Chen, Fang
发育与干细胞
发表日期：2025
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Application of a Multiplex Ligation-Dependent Probe Amplification-Based Next-Generation Sequencing Approach for the Detection of Pathogenesis of Duchenne Muscular Dystrophy and Spinal Muscular Atrophy Caused by Copy Number Aberrations

应用多重连接依赖性探针扩增的下一代测序方法检测由拷贝数异常引起的杜氏肌营养不良症和脊髓性肌萎缩症的发病机制

期刊:Molecular Neurobiology
影响因子:4.3
doi:10.1007/s12035-023-03572-9
Yang, Yongchen; Xia, Chaoran; Song, Xiaozhen; Tang, Xiaojun; Nie, Xueling; Xu, Wuhen; Du, Chengkan; Zhang, Hong; Luo, Peng
神经科学
肌萎缩症
发表日期：2024
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Clinical characteristics and identification of novel CNOT1 variants in three unrelated Chinese families with Vissers-Bodmer Syndrome

Vissers-Bodmer综合征三个互不相关的中国家族的临床特征及新型CNOT1变异体的鉴定

期刊:Heliyon
影响因子:3.6
doi:10.1016/j.heliyon.2024.e26743
Tang, Xiaojun; Lan, Xiaoping; Song, Xiaozhen; Xu, Wuhen; Zhang, Yuanfeng; Wang, Simei; Xiao, Man; Yang, Yongchen; Zhang, Hong; Wu, Shengnan
CNOT1
发表日期：2024
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Two novel heterozygous truncating variants in NR4A2 identified in patients with neurodevelopmental disorder and brief literature review

在神经发育障碍患者中发现了NR4A2基因的两种新的杂合截断变异，并简要回顾了相关文献。

期刊:Frontiers in Neuroscience
影响因子:3.2
doi:10.3389/fnins.2022.956429
Song, Xiaozhen; Xu, Wuhen; Xiao, Man; Lu, Yanfen; Lan, Xiaoping; Tang, Xiaojun; Xu, Nanjie; Yu, Guangjun; Zhang, Hong; Wu, Shengnan
发育与干细胞
神经科学
NR4A2
发表日期：2022
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Case report: Osteo-oto-hepato-enteric syndrome caused by UNC45A deficiency

病例报告：UNC45A 缺陷引起的骨-耳-肝-肠综合征

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2022.1079481
Wang, Ruixue; Wang, Yizhong; Yu, Ronghua; Xu, Wuhen; Zhang, Ting; Xiao, Yongmei
发表日期：2022
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