Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing

被引:0
|
作者
Xuechao Zhao
Haofeng Ning
Yanhong Wang
Ganye Zhao
Shiyue Mei
Ning Liu
Conghui Wang
Aojie Cai
Erhu Wei
Xiangdong Kong
机构
[1] The First Affiliated Hospital of Zhengzhou University,The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology
[2] Luoyang Maternal and Child Health Care Hospital,Department of Medical Genetics and Antenatal Diagnosis
[3] Zhengzhou Children’s Hospital,Henan Provincial Key Laboratory of Children’s Genetics and Metabolic Diseases, Children’s Hospital Affiliated To Zhengzhou University
[4] Peking University First Hospital,Department of Pediatrics
[5] First Affiliated Hospital of Zhengzhou University,Department of Pediatrics
来源
Neurological Sciences | 2022年 / 43卷
关键词
Pediatric epilepsy; Genetic analysis; Novel variants; De novo; Whole-exome sequencing;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:4439 / 4451
页数:12
相关论文
共 50 条
  • [1] Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing
    Zhao, Xuechao
    Ning, Haofeng
    Wang, Yanhong
    Zhao, Ganye
    Mei, Shiyue
    Liu, Ning
    Wang, Conghui
    Cai, Aojie
    Wei, Erhu
    Kong, Xiangdong
    NEUROLOGICAL SCIENCES, 2022, 43 (07) : 4439 - 4451
  • [2] Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients
    Dai, Genyin
    Pu, Zhening
    Cheng, Xueying
    Yin, Jie
    Chen, Jun
    Xu, Ting
    Zhang, Han
    Li, Zewei
    Chen, Xuan
    Chen, Jinlong
    Qin, Yuming
    Yang, Shiwei
    PEDIATRIC CARDIOLOGY, 2019, 40 (05) : 950 - 957
  • [3] Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients
    Genyin Dai
    Zhening Pu
    Xueying Cheng
    Jie Yin
    Jun Chen
    Ting Xu
    Han Zhang
    Zewei Li
    Xuan Chen
    Jinlong Chen
    Yuming Qin
    Shiwei Yang
    Pediatric Cardiology, 2019, 40 : 950 - 957
  • [4] PRELIMINARY STUDY ON WHOLE-EXOME SEQUENCING TECHNOLOGY IN THE GENETIC ANALYSIS OF PEDIATRIC PATIENTS WITH GLIOMAS
    Lai, Mingyao
    Li, Juan
    Zhen, Junjie
    Zhou, Jiangfen
    Hu, Qingjun
    Ye, Minting
    Li, Shaoqun
    Wang, Lichao
    Zhou, Cheng
    Zhou, Zhaoming
    Cai, Linbo
    NEURO-ONCOLOGY, 2019, 21 : 104 - 104
  • [5] Genetic screening of Chinese patients with hydatidiform mole by whole-exome sequencing and comprehensive analysis
    Yang, Jingyi
    Yan, Liying
    Li, Rong
    Liu, Ping
    Qiao, Jie
    Liu, Yan
    Zhi, Xu
    JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, 2022, 39 (10) : 2403 - 2411
  • [6] Genetic screening of Chinese patients with hydatidiform mole by whole-exome sequencing and comprehensive analysis
    Jingyi Yang
    Liying Yan
    Rong Li
    Ping Liu
    Jie Qiao
    Yan Liu
    Xu Zhi
    Journal of Assisted Reproduction and Genetics, 2022, 39 : 2403 - 2411
  • [7] Tiered analysis of whole-exome sequencing for epilepsy diagnosis
    Dunn, Paul J.
    Maher, Bridget H.
    Albury, Cassie L.
    Stuart, Shani
    Sutherland, Heidi G.
    Maksemous, Neven
    Benton, Miles C.
    Smith, Robert A.
    Haupt, Larisa M.
    Griffiths, Lyn R.
    MOLECULAR GENETICS AND GENOMICS, 2020, 295 (03) : 751 - 763
  • [8] Tiered analysis of whole-exome sequencing for epilepsy diagnosis
    Paul J. Dunn
    Bridget H. Maher
    Cassie L. Albury
    Shani Stuart
    Heidi G. Sutherland
    Neven Maksemous
    Miles C. Benton
    Robert A. Smith
    Larisa M. Haupt
    Lyn R. Griffiths
    Molecular Genetics and Genomics, 2020, 295 : 751 - 763
  • [9] Identification of novel mutations in endometrial cancer patients by whole-exome sequencing
    Chang, Ya-Sian
    Huang, Hsien-Da
    Yeh, Kun-Tu
    Chang, Jan-Gowth
    INTERNATIONAL JOURNAL OF ONCOLOGY, 2017, 50 (05) : 1778 - 1784
  • [10] Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing
    Qin, Li
    Jia, Yujiao
    Wang, Haoxu
    Feng, Yuan
    Zou, Junyan
    Zhou, Jianfeng
    Yu, Changshun
    Huang, Bingqing
    Zhang, Ruixue
    Shi, Lihui
    Xiao, Jigang
    Zhao, Yuping
    Sun, Qi
    Xiao, Zhijian
    Wang, Huijun
    CLINICA CHIMICA ACTA, 2025, 565