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

Novel RAD50 variants lead to Nijmegen Breakage Syndrome-like disorder and unplanned recombinant human growth hormone treatment response.

新型 RAD50 变异体导致类似尼梅亨断裂综合征的疾病和计划外重组人生长激素治疗反应。

期刊:Frontiers in Endocrinology
影响因子:4.6
doi:10.3389/fendo.2026.1755251
Gong Yan, Jiang MingYu, Wu ShengNan, Guo Sheng, Lyu YongFen
RAD50
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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Gut microbiome and short-chain fatty acids associated with the efficacy of growth hormone treatment in children with short stature

肠道菌群和短链脂肪酸与生长激素治疗矮小症儿童的疗效相关

期刊:Frontiers in Pediatrics
影响因子:2
doi:10.3389/fped.2025.1557878
He, Pingsihua; Lyu, Yongfen; Shen, Xinyuan; Liu, Wenxin; Zhang, Ying; Li, Yan; Huang, Yuying; Xu, Liya; Zhang, Liang; Guo, Sheng
微生物学
肠道菌群
代谢
免疫/内分泌
发表日期：2025
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diseaseGPS: auxiliary diagnostic system for genetic disorders based on genotype and phenotype

diseaseGPS：基于基因型和表型的遗传疾病辅助诊断系统

期刊:
影响因子:
doi:10.1093/bioinformatics/btad517
Huang, Daoyi; Jiang, Jianping; Zhao, Tingting; Wu, Shengnan; Li, Pin; Lyu, Yongfen; Feng, Jincai; Wei, Mingyue; Zhu, Zhixing; Gu, Jianlei; Ren, Yongyong; Yu, Guangjun; Lu, Hui
发表日期：2023
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