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

Novel SLC16A2 mutations impair thyroid hormone transport and drive neurodevelopmental deficits in Chinese patients with allan-herndon-dudley syndrome

新型SLC16A2基因突变会损害甲状腺激素的转运，并导致中国Allan-Herndon-Dudley综合征患者出现神经发育缺陷。

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-026-40703-3
Sun, Xiaoang; Wang, Chao; Lin, Longlong; Lan, Xiaoping; Wu, Shengnan; Chen, Xuqin; Cai, Cheng
发育与干细胞
神经科学
免疫/内分泌
发表日期：2026
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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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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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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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Characterization of cardiac involvement in patients with LMNA splice-site mutation-related dilated cardiomyopathy and sudden cardiac death

LMNA 剪接位点突变相关扩张型心肌病和心源性猝死患者的心脏受累特征

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2023.1291411
Xuebin Ling #, Yanjun Hou #, Xingyu Jia #, Youling Lan, Xiaoping Wu, Julan Wu, Wei Jie, Hui Liu, Shan Huang, Zhenling Wan, Tianfa Li, Junli Guo, Tiebiao Liang
心血管
心肌病
发表日期：2024
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Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy

中国男孩KAT6B疾病的临床特征和潜在机制

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.2202
Sun, Xiaoang; Luo, Xiaona; Lin, Longlong; Wang, Simei; Wang, Chunmei; Yuan, Fang; Lan, Xiaoping; Yan, Jingbin; Chen, Yucai
发表日期：2023
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Clinical Study of 8 Cases of CHD2 Gene Mutation-Related Neurological Diseases and Their Mechanisms

CHD2基因突变相关神经系统疾病8例临床研究及其机制

期刊:Frontiers in Cell and Developmental Biology
影响因子:4.3
doi:10.3389/fcell.2022.853127
Luo, Xiaona; Sun, Xiaoang; Wang, Yilin; Lin, Longlong; Yuan, Fang; Wang, Simei; Zhang, Wenjing; Ji, Xiaobing; Liu, Meiyan; Wu, Shengnan; Lan, Xiaoping; Zhang, Jie; Yan, Jingbin; Zeng, Fanyi; Chen, Yucai
发表日期：2022
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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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Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases

10例中国PRRT2相关神经系统疾病患儿的临床特征和遗传学研究

期刊:Frontiers in Pediatrics
影响因子:2
doi:10.3389/fped.2022.997088
Liu, Meiyan; Sun, Xiaoang; Lin, Longlong; Luo, Xiaona; Wang, Simei; Wang, Chunmei; Zhang, Yuanfeng; Xu, Quanmei; Xu, Wuhen; Wu, Shengnan; Lan, Xiaoping; Chen, Yucai
发表日期：2022
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