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

GDC: Integration of Multi-Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss

GDC：整合多组学和表型资源以揭示听力损失的遗传发病机制

期刊:Advanced Science
影响因子:14.1
doi:10.1002/advs.202408891
Cheng, Hui; Wang, Xuegang; Zhong, Mingjun; Geng, Jia; Li, Wenjian; Pei, Kanglu; Wang, Jing; Wang, Lanchen; Lu, Yu; Cheng, Jing; Bu, Fengxiao; Yuan, Huijun
发表日期：2025
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Heterozygous TBX2 frameshift variants cause a novel syndromic hearing loss with incompletely penetrant nystagmus.

杂合子 TBX2 移码变异会导致一种新的综合征性听力损失，伴有不完全外显的眼球震颤。

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2025-110997
Hua Wan, Wang Yanfei, Li Xiang, Xiong Wenyu, Wang Lanchen, Chen Meilin, Bu Fengxiao, Liu Libo, Chen Fangyi, Zhong Mingjun, Lu Yu, Liu Zhiyong, Cheng Jing, Yuan Huijun
TBX2
发表日期：2025
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seGMM: A New Tool for Gender Determination From Massively Parallel Sequencing Data.

seGMM：一种利用大规模并行测序数据进行性别鉴定的新工具

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2022.850804
Liu Sihan, Zeng Yuanyuan, Wang Chao, Zhang Qian, Chen Meilin, Wang Xiaolu, Wang Lanchen, Lu Yu, Guo Hui, Bu Fengxiao
其它
发表日期：2022
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