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

Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel Guidelines

评估等位基因频率信息:变异注释专家组指南研究

Wang, Xiaoyan; Zhang, Tongmei; Qin, Yayun; Zou, Yongyi; Luo, Haiyan; Li, Haibo; Song, Jieping

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development

整合复合物亚基INTS6的破坏会导致神经发育障碍,并损害神经发生和突触发育。

Peng, Xiaoxia; Jia, Xiangbin; Wang, Hanying; Chen, Jingjing; Zhang, Xiaolei; Tan, Senwei; Duan, Xinyu; Qiu, Can; Hu, Mengyuan; Hou, Haiyan; Parenti, Ilaria; Kuechler, Alma; Kaiser, Frank J; Renck, Alicia; Caylor, Raymond; Skinner, Cindy; Peeden, Joseph; Cogne, Benjamin; Isidor, Bertrand; Mercier, Sandra; Nicolas, Gael; Guerrot, Anne-Marie; Faletra, Flavio; Musante, Luciana; Cohen, Lior; Bergant, Gaber; Čuturilo, Goran; Peterlin, Borut; Seeley, Andrea; Bachman, Kristine; Martinez-Agosto, Julian A; van Ravenswaaij-Arts, Conny; Bos, Dennis; Kim, Katherine H; Bartolomaeus, Tobias; Schmederer, Zelia; Abou Jamra, Rami; Aref-Eshghi, Erfan; Zhao, Wenjing; Zou, Yongyi; Hu, Zhengmao; Pan, Qian; Li, Faxiang; Chen, Guodong; Li, Jiada; Hu, Zhangxue; Xia, Kun; Tan, Jieqiong; Guo, Hui

Identification of novel COL4A5 variants and prenatal diagnosis in three large families

在三个大家族中鉴定出新的COL4A5变异体并进行产前诊断

Zeng, Baitao; Yu, Yao; Liu, Cong; Li, Xinyu; Lu, Qing; Chen, Zhongfa; Chen, Jia; Zou, Jun; Yang, Bicheng; Liu, Yanqiu; Zou, Yongyi

Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central China

中国中南部一项大型队列研究中,扩大隐性遗传病携带者筛查的临床经验

Pan, Lu; Luo, Haiyan; Huang, Tingting; Yuan, Huizhen; Zou, Yongyi; Lu, Qing; Zeng, Baitao; Ma, Pengpeng; Yang, Yan; Huang, Ting; Liu, Danping; Yang, Bicheng; Liu, Yanqiu; Zou, Jun; Fu, Fen

Clinical application of polar body-based preimplantation genetic testing for maternal mutations in women with a limited number of oocytes

极体植入前遗传学检测在卵子数量有限的女性中检测母源突变的临床应用

Chen, Jia; Wu, Xingwu; Xu, Qiang; Ding, Tao; Chen, Ge; Chen, Houyang; Zou, Yongyi; Huang, Jialyu; Zhang, Ziyu; Tian, Lifeng; Zhao, Yan; Duan, Ranhui; Li, Zengming; Wu, Qiongfang; Liu, Yanqiu

A novel splicing variant in TECTA associated with prelingual autosomal dominant nonsyndromic hearing loss via dominant-negative effect.

TECTA 中的一种新型剪接变体通过显性负效应与语前常染色体显性非综合征性听力损失相关

Yang Yan, Xiong YuanPing, Lai Hua, Feng Chuanxin, Chen ZhongFa, Huang YaJuan, Guo Zhen, Li XinYu, Luo Laipeng, Zhao Feng, Wu Ping, Luo Haiyan, Liu Yanqiu, Liu Yuhe, Zou Yongyi

Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases

家族全外显子组测序在产前诊断中的应用——357例病例分析

Ge, Yijun; Yuan, Huizhen; Yu, Yao; Xiao, Junfang; Liu, Danping; Peng, Yongbao; Liu, Ying; Huang, Shuhui; Yang, Bicheng; Zou, Yongyi; Liu, Yanqiu

A retrospective study for the diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications

一项回顾性研究,探讨染色体微阵列分析在具有高危产前指征的胎儿诊断中的价值

Xiao, Hui; Xiao, Junfang; Zhang, Huan; Huang, Shuhui; Lu, Qing; Yuan, Huizhen; Zou, Yongyi; Yang, Bicheng; Liu, Yanqiu

Performance testing for the sensitivity and resolution of low-pass WGS for small CNV detection

低通全基因组测序(WGS)检测小拷贝数变异(CNV)的灵敏度和分辨率性能测试

Huang, Shuhui; Li, Juan; Liu, Danping; Zou, Yongyi; Hang, Tingting; Yuan, Huizhen; Yang, Yun; Li, Hao; Dong, Minyue; Qian, Yeqing; Sun, Yan; Huang, Chuan; Bai, Guiqin

Prenatal chromosomal microarray analysis in a large Chinese cohort of fetuses with congenital heart defects: a single center study

中国大型先天性心脏病胎儿队列的产前染色体微阵列分析:一项单中心研究

Lu, Qing; Luo, Laipeng; Zeng, Baitao; Luo, Haiyan; Wang, Xianjin; Qiu, Lijuan; Yang, Yan; Feng, Chuanxin; Zhou, Jihui; Hu, Yanling; Huang, Tingting; Ma, Pengpeng; Huang, Ting; Xie, Kang; Yuan, Huizhen; Huang, Shuhui; Yang, Bicheng; Zou, Yongyi; Liu, Yanqiu