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

Concurrent physiologic and gene-based genetic newborn hearing screening in a general population

在一般人群中同时进行生理和基因遗传新生儿听力筛查

Sun, Yun; Zhao, Jingyu; Meng, Liping; Jiang, Tao; Xiang, Jiale; Wang, Xin; Guan, Xianwei; Zhang, Jingjing; Fan, Ye; Xu, Jing; Lin, Zibin; Sun, Xiangzhong; Huang, Hui; Fan, Chunna; Yang, Jing; Peng, Zhiyu; Xu, Zhengfeng

Residual risk of clinically significant copy number variations in fetuses with ultrasonographic soft markers following exclusion of non-invasive prenatal screening-detectable findings

在排除无创产前筛查可检测到的结果后,超声软指标阳性胎儿中仍存在具有临床意义的拷贝数变异的残余风险。

Liang, Yixuan; Zhou, Ran; Liu, Tingting; Gao, Jie; Xu, Yiyun; Huang, Mingtao; Meng, Lulu; Huo, Haiqin; Zhang, Qinxin; Wu, Yun; Xu, Zhengfeng; Wang, Yan

Clinical Utility of Prenatal cfDNA Screening for Sex Chromosome Aneuploidies: A Single Center Experience

产前cfDNA筛查性染色体非整倍体的临床应用:单中心经验

Lin, Ying; Lu, Qun; Wu, Yun; Li, Hang; Feng, Haoyang; Luo, Chunyu; Hu, Ping; Liang, Dong; Xu, Zhengfeng

αTIGIT-IL2 achieves tumor regression by promoting tumor-infiltrating regulatory T cell fragility in mouse models

αTIGIT-IL2 通过促进小鼠模型中肿瘤浸润性调节性 T 细胞的脆弱性来实现肿瘤消退

Tianci Wang ,Yupu Xu ,Zhengfeng Zhang ,Yaqi Wu ,Long Chen ,Xiaodong Zheng ,Hui Peng ,Qiang Zou ,Rui Sun ,Hongdi Ma ,Haoyu Sun ,Zhigang Tian ,Xiaohu Zheng

From iPSCs to myotubes: Identifying potential biomarkers for human FSHD by single-cell transcriptomics

从诱导多能干细胞到肌管:通过单细胞转录组学鉴定人类 FSHD 的潜在生物标志物

Liu, Wenwen; Chen, Hao; Jiao, Jiao; Zhang, Qinxin; Liang, Dong; Huo, Haiqin; Ji, Xiuqing; Huang, Mingtao; Hou, Xiaojing; Cao, Yan; Wu, Sihui; Wang, Yan; Zhang, Jun; Xu, Zhengfeng; Hu, Ping

A Novel EBP c.452A>G Mutation Identified in a Girl with Conradi-Hünermann-Happle Syndrome Presenting with Hydronephrosis

在一名患有康拉迪-胡内曼-哈普尔综合征并伴有肾积水的女孩中发现了一种新的EBP c.452A>G突变

Qiao, Fengchang; Zeng, Huasha; Zhang, Cuiping; Wang, Yan; Wang, Yuguo; Zhou, Ran; Meng, Lulu; Hu, Ping; Xu, Zhengfeng

PSI-7 The dietary supplementation of fatty acids and choline modulates the concentration of metabolites in embryonic tissues during elongation

PSI-7 膳食补充脂肪酸和胆碱可调节胚胎组织在伸长过程中的代谢物浓度

Li, Yahong; Sun, Yun; Zhang, Xiaojuan; Wang, Xin; Yang, Peiying; Guan, Xianwei; Wang, Yan; Zhou, Xiaoyan; Hu, Ping; Jiang, Tao; Xu, Zhengfeng; McCarty, Allyson; Bahr, Megan; Sarwar, Zaeem; Smith, Damon; Poore, Matt H; Poole, Daniel H; Bishop, Jeanette; Hansen, Thomas R; Ashrafi, Nadia; Mimi, Roman A; Graham, Stewart F; Pohler, Ky G; Santos, Jose E P; Silva, Felipe A C C

Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay.

长读长纳米孔测序确定了中国一名患有综合征性发育迟缓的女孩的 MEIS2 基因中从头发生的臂间倒位的精确断点,该倒位破坏了该基因

Tan Jianxin, Huang Mingtao, Ji Xiuqing, Liu An, Qiao Fengchang, Zhang Cuiping, Meng Lulu, Wang Yan, Xu Zhengfeng, Hu Ping

Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing

利用纳米孔长读长全基因组测序对面肩肱型肌营养不良症进行全面的基因分析

Huang, Mingtao; Zhang, Qinxin; Jiao, Jiao; Shi, Jianquan; Xu, Yiyun; Zhang, Cuiping; Zhou, Ran; Liu, Wenwen; Liang, Yixuan; Chen, Hao; Wang, Yan; Xu, Zhengfeng; Hu, Ping

A new strategy for prenatal genetic screening of copy number variations in the DMD gene: A large cohort study based on NIPT analysis

一种用于产前筛查DMD基因拷贝数变异的新策略:一项基于NIPT分析的大型队列研究

Wang, Yan; Sun, Yan; Meng, Lulu; He, Quanze; Zhao, Jingyu; Zhou, Ran; Wang, Zhonghua; Tan, Jianxin; Ma, Dingyuan; Fan, Linlin; Chen, Yunmei; Wang, Yuguo; Jiang, Zhu; Qiao, Zhihong; Wu, Xiaojuan; Shao, Binbin; Xue, Ying; Song, Lijie; Wang, Ting; Hu, Ping; Xu, Zhengfeng