| Issue Date |
Title |
Author(s) |
| 2015 |
Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome |
Xu, Xiaojing;Yang, Xiaoxu;Wu, Qixi;Liu, Aijie;Yang, Xiaoling;Ye, Adam Yongxin;Huang, August Yue;Li, Jiarui;Wang, Meng;Yu, Zhe;Wang, Sheng;Zhang, Zhichao;Wu, Xiru;Wei, Liping;Zhang, Yuehua |
| May-2020 |
CHD2-related epilepsy: novel mutations and new phenotypes |
Chen, Jiaoyang;Zhang, Jing;Liu, Aijie;Zhang, Liping;Li, Hua;Zeng, Qi;Yang, Zhixian;Yang, Xiaoling;Wu, Xiru;Zhang, Yuehua |
| Dec-2022 |
Detecting genomic mosaicism in "de novo" genetic epilepsy by amplicon-based deep sequencing |
Chen, Jiaoyang;Chen, Yi;Yang, Ying;Niu, Xueyang;Zhang, Jing;Zeng, Qi;Liu, Aijie;Xu, Xiaojing;Yang, Xiaoxu;Li, Shupin;Yang, Xiaoling;Wang, Yi;Zhang, Yuehua |
| 2018 |
Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort |
Zeng, Qi;Yang, Xiaoling;Zhang, Jing;Liu, Aijie;Yang, Zhixian;Liu, Xiaoyan;Wu, Ye;Wu, Xiru;Wei, Liping;Zhang, Yuehua |
| 2017 |
Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort |
Yang, Xiaoxu;Liu, Aijie;Xu, Xiaojing;Yang, Xiaoling;Zeng, Qi;Ye, Adam Yongxin;Yu, Zhe;Wang, Sheng;Huang, August Yue;Wu, Xiru;Wu, Qixi;Wei, Liping;Zhang, Yuehua |
| 2019 |
Mosaicism and incomplete penetrance of PCDH19 mutations |
Liu, Aijie;Yang, Xiaoxu;Yang, Xiaoling;Wu, Qixi;Zhang, Jing;Sun, Dan;Yang, Zhixian;Jiang, Yuwu;Wu, Xiru;Wei, Liping;Zhang, Yuehua |
| 19-Jul-2021 |
Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort |
Tan, Dandan;Ge, Lin;Fan, Yanbin;Chang, Xingzhi;Wang, Shuang;Wei, Cuijie;Ding, Juan;Liu, Aijie;Wang, Shuo;Li, Xueying;Gao, Kai;Yang, Haipo;Que, Chengli;Huang, Zhen;Li, Chunde;Zhu, Ying;Mao, Bing;Jin, Bo;Hua, Ying;Zhang, Xiaoli;Zhang, Bingbing;Zhu, Wenhua;Zhang, Cheng;Wang, Yanjuan;Yuan, Yun;Jiang, Yuwu;Rutkowski, Anne;Boennemann, Carsten G.;Wu, Xiru;Xiong, Hui |
| 2017 |
Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing |
Fu, Xiaona;Yang, Haipo;Jiao, Hui;Wang, Shuo;Liu, Aijie;Li, Xiaoqing;Xiao, Jiangxi;Yang, Yanling;Wu, Xiru;Xiong, Hui |
| 3-Nov-2022 |
PCDH19-related epilepsy in mosaic males: The phenotypic implication of genotype and variant allele frequency |
Chen, Yi;Yang, Xiaoxu;Chen, Jiaoyang;Yang, Xiaoling;Yang, Ying;Liu, Aijie;Zhang, Xiaoli;Wu, Wenjuan;Sun, Dan;Yang, Zhixian;Jiang, Yuwu;Zhang, Yuehua |
| 2018 |
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45 |
Carvill, Gemma L.;Liu, Aijie;Mandelstam, Simone;Schneider, Amy;Lacroix, Amy;Zemel, Matthew;McMahon, Jacinta M.;Bello-Espinosa, Luis;Mackay, Mark;Wallace, Geoffrey;Waak, Michaela;Zhang, Jing;Yang, Xiaoling;Malone, Stephen;Zhang, Yue-Hua;Mefford, Heather C.;Scheffer, Ingrid E. |
