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

Fumarate and nitrate reduction regulator (FNR) modulates hypermucoviscosity and virulence in hypervirulent Klebsiella pneumoniae through anaerobic adaptation

富马酸和硝酸盐还原调节因子(FNR)通过厌氧适应调节高毒力肺炎克雷伯菌的黏液黏度和毒力。

Xu, Yidan; Guo, Ruolan; Wang, Ruomei; Su, Zhe; Wu, Yulu; Xie, Chengbin; Wang, Pinjia

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

Hao, Chanjuan; Hu, Xuyun; Guo, Ruolan; Qi, Zhan; Jin, Feng; Zhang, Xiaofen; Xie, Limin; Liu, Haihong; Liu, Yuanhu; Ni, Xin; Li, Wei

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

Hao, Chanjuan; Hu, Xuyun; Guo, Ruolan; Qi, Zhan; Xie, Limin; Jin, Feng; Li, Huimin; Ni, Xin; Li, Wei

DVsc: An Automated Framework for Efficiently Detecting Viral Infection from Single-cell Transcriptomics Data

DVsc:一种用于从单细胞转录组学数据中高效检测病毒感染的自动化框架

Leng, Fei; Mei, Song; Zhou, Xiaolin; Liu, Xuanshi; Yuan, Yefeng; Xu, Wenjian; Hao, Chongyi; Guo, Ruolan; Hao, Chanjuan; Li, Wei; Zhang, Peng

Biallelic inactivation of SDHA results in comorbidity of pediatric recurrent neuroblastoma and gastric stromal tumor

SDHA基因双等位基因失活导致儿童复发性神经母细胞瘤和胃间质瘤合并发生。

Yang, Shen; Zhang, Shixuan; Zhao, Wen; Fu, Libing; Zhang, Li; Chui, Chan Hon; Guo, Ruolan; Su, Yan; Sun, Dayan; Wang, Huanmin

Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine

鉴定出一种新的纯合无义SLC10A7变异,该变异导致身材矮小、牙釉质发育不全和骨骼发育不良伴脊柱侧弯,并探讨了脊柱的手术治疗方法。

Zhang, Wenyan; Yao, Ziming; Guo, Ruolan; Cao, Jun; Li, Wei; Hao, Chanjuan; Zhang, Xuejun

Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests

通过一系列基因组检测,对354名携带罕见突变的中国自闭症谱系障碍(ASD)患儿进行基因诊断。

Zhang, Yue; Li, Ying; Guo, Ruolan; Xu, Wenjian; Liu, Xuanshi; Zhao, Chunlin; Guo, Qi; Xu, Wenshan; Ni, Xin; Hao, Chanjuan; Cui, Yonghua; Li, Wei

Behavioural deficits of autism spectrum disorder and associations with different gene clusters: a study with the whole-genome transmission disequilibrium test

自闭症谱系障碍的行为缺陷及其与不同基因簇的关联:一项基于全基因组传递不平衡检验的研究

Guo, Qi; Xia, Lu; Guo, Ruolan; Xu, Wenjian; Zhang, Yue; Zhao, Chunlin; Zhang, Peng; Bai, Ting; Ni, Xin; Hao, Chanjuan; Xia, Kun; Li, Wei

NeuroCNVscore: a tissue-specific framework to prioritise the pathogenicity of CNVs in neurodevelopmental disorders

NeuroCNVscore:一种组织特异性框架,用于优先评估神经发育障碍中CNV的致病性

Liu, Xuanshi; Xu, Wenjian; Leng, Fei; Zhang, Peng; Guo, Ruolan; Zhang, Yue; Hao, Chanjuan; Ni, Xin; Li, Wei

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

Guo, Ruolan; Chen, Yuanying; Hu, Xuyun; Qi, Zhan; Guo, Jun; Li, Yuchuan; Hao, Chanjuan