Search Results - Zhengmao Hu
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Homozygous loss‐of‐function mutation of the <i><scp>LEPREL1</scp></i> gene causes severe non‐syndromic high myopia with early‐onset cataract by Hui Guo, Ping Tong, Yu Peng, T. Wang, Yong Liu, J. Chen, Y. Li, Qi Tian, Yuantai Hu, Yi-Cong Zheng, Lin Xiao, Wei Xiong, Qian Pan, Zhengmao Hu, Kun Xia
Published 2013Artigo -
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Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia by Hui Guo, Ping Tong, Yanling Liu, Lu Xia, Tianyun Wang, Qi Tian, Ying Li, Yiqiao Hu, Zheng Yu, Xuemin Jin, Yun Li, Wei Xiong, Beisha Tang, Yong Feng, Jia‐Da Li, Qian Pan, Zhengmao Hu, Kun Xia
Published 2015Artigo -
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Phenotype‐to‐genotype approach reveals head‐circumference‐associated genes in an autism spectrum disorder cohort by Huidan Wu, Honghui Li, Ting Bai, Lin Han, Jianjun Ou, Guanglei Xun, Yu Zhang, Yazhe Wang, Guiqin Duan, Ningxia Zhao, Biyuan Chen, Xiaogang Du, Meiling Yao, Xiaobing Zou, Jingping Zhao, Zhengmao Hu, Evan E. Eichler, Hui Guo, Kun Xia
Published 2019Artigo -
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Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort by Hui Guo, Peng Yu, Zhengmao Hu, Ying Li, Guanglei Xun, Jianjun Ou, Liangdan Sun, Zhimin Xiong, Yanling Liu, Tianyun Wang, Jingjing Chen, Lu Xia, Ting Bai, Yidong Shen, Qi Tian, Yiqiao Hu, Lu Shen, Rongjuan Zhao, Xuejun Zhang, Fengyu Zhang, Jingping Zhao, Xiaobing Zou, Kun Xia
Published 2017Artigo -
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<scp>CAG</scp> Repeat Expansion in <scp><i>THAP11</i></scp> Is Associated with a Novel Spinocerebellar Ataxia by Dandan Tan, Cuijie Wei, Zhao Chen, Yu Huang, Jianwen Deng, Jingjing Li, Yidan Liu, Xinhua Bao, Jin Xu, Zhengmao Hu, Suxia Wang, Yanbin Fan, Yizheng Jiang, Ye Wu, Yuan Wu, Shuang Wang, Panyan Liu, Yuehua Zhang, Zhixian Yang, Yuwu Jiang, Hong Zhang, Daojun Hong, Nanbert Zhong, Hong Jiang, Hui Xiong
Published 2023Artigo -
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Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia by Yuting Shi, Junling Wang, Jia‐Da Li, Haigang Ren, Wenjuan Guan, Miao He, Weiqian Yan, Ying Zhou, Zhengmao Hu, Jianguo Zhang, Jingjing Xiao, Zheng Su, Meizhi Dai, Jun Wang, Hong Jiang, Jifeng Guo, Yafang Zhou, Fufeng Zhang, Nan Li, Juan Du, Qian Xu, Yacen Hu, Qian Pan, Lu Shen, Guanghui Wang, Kun Xia, Zhuohua Zhang, Beisha Tang
Published 2013Artigo -
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<i>SLC39A5</i>mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia by Hui Guo, Xuemin Jin, Tengfei Zhu, Tianyun Wang, Ping Tong, Lei Tian, Peng Yu, Liangdan Sun, Anran Wan, Jingjing Chen, Yanling Liu, Ying Li, Qi Tian, Lu Xia, Lusi Zhang, Yongcheng Pan, Lina Lu, Qiong Liu, Lu Shen, Yun Li, Wei Xiong, Jia‐Da Li, Beisha Tang, Yong Feng, Xuejun Zhang, Zhuohua Zhang, Qian Pan, Zhengmao Hu, Kun Xia
Published 2014Artigo -
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Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene by Xiaomeng Yin, Jinghan Lin, Li Cao, Tong-Mei Zhang, Sheng Zeng, Kailin Zhang, Wotu Tian, Zhengmao Hu, Nan Li, Junling Wang, Jifeng Guo, Ruoxi Wang, Kun Xia, Zhuohua Zhang, Fei Yin, Jing Peng, Wei‐Ping Liao, Yong‐Hong Yi, Jingyu Liu, Zhixian Yang, Zhong Chen, Xiao Mao, Xinxiang Yan, Hong Jiang, Lu Shen, Shengdi Chen, Liming Zhang, Beisha Tang
Published 2017Artigo -
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Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor by Qiying Sun, Qian Xu, Yun Tian, Zhengmao Hu, Lixia Qin, Jinxia Yang, Wen Huang, Jin Xue, Jinchen Li, Sheng Zeng, Ying Wang, Haoxuan Min, Xiaoyu Chen, Junpu Wang, Bin Xie, Fan Liang, Hainan Zhang, Chunyu Wang, Lifang Lei, Xinxiang Yan, Hongwei Xu, Ranhui Duan, Kun Xia, Jingyu Liu, Hong Jiang, Lu Shen, Jifeng Guo, Beisha Tang
Published 2019Artigo -
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De novo genic mutations among a Chinese autism spectrum disorder cohort by Tianyun Wang, Hui Guo, Bo Xiong, Holly A.F. Stessman, Huidan Wu, Bradley P. Coe, Tychele N. Turner, Yanling Liu, Wenjing Zhao, Kendra Hoekzema, Laura Vives, Lu Xia, Meina Tang, Jianjun Ou, Biyuan Chen, Yidong Shen, Guanglei Xun, Long Min, Janice Lin, Zev Kronenberg, Yu Peng, Ting Bai, Honghui Li, Xiaoyan Ke, Zhengmao Hu, Jingping Zhao, Xiaobing Zou, Kun Xia, Evan E. Eichler
Published 2016Artigo -
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Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders by Yun Tian, Junling Wang, Wen Huang, Sheng Zeng, Bin Jiao, Zhen Liu, Chen Zhao, Yujing Li, Ying Wang, Haoxuan Min, Xuejing Wang, Yong You, Ruxu Zhang, Xiaoyu Chen, Fang Yi, Yafang Zhou, Hongyu Long, Chaojun Zhou, Xuan Hou, Junpu Wang, Bin Xie, Fan Liang, Zhuanyi Yang, Qiying Sun, Emily G. Allen, Andrew M. Shafik, Ha Eun Kong, Jifeng Guo, Xinxiang Yan, Zhengmao Hu, Kun Xia, Hong Jiang, Hongwei Xu, Ranhui Duan, Peng Jin, Beisha Tang, Lu Shen
Published 2019Artigo -
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Coding mutations in <i>NUS1</i> contribute to Parkinson’s disease by Jifeng Guo, Lu Zhang, Kai Li, Junpu Mei, Jin Xue, Jia Chen, Xia Tang, Lu Shen, Hong Jiang, Chao Chen, Hui Guo, Xueli Wu, Silong Sun, Qian Xu, Qiying Sun, Piu Chan, Huifang Shang, Tao Wang, Guohua Zhao, Jingyu Liu, Xuefeng Xie, Yiqi Jiang, Zhenhua Liu, Yuwen Zhao, Zuobin Zhu, Jia‐Da Li, Zhengmao Hu, Xinxiang Yan, Xiaodong Fang, Guanghui Wang, Fengyu Zhang, Kun Xia, Chunyu Liu, Xiongwei Zhu, Zhenyu Yue, Shuai Cheng Li, Huaibin Cai, Zhuohua Zhang, Ranhui Duan, Beisha Tang
Published 2018Artigo -
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GIGYF1 disruption associates with autism and impaired IGF-1R signaling by Guodong Chen, Bin Yu, Senwei Tan, Jieqiong Tan, Xiangbin Jia, Qiumeng Zhang, Xiaolei Zhang, Qian Jiang, Hua Yue, Yaoling Han, Shengjie Luo, Kendra Hoekzema, Raphael Bernier, Rachel K. Earl, Evangeline C. Kurtz‐Nelson, Michaela J. Idleburg, Suneeta Madan-Khetarpal, Rebecca A. Clark, Jessica Sebastian, Alberto Fernández‐Jaén, Sara Álvarez, Staci D. King, Luiza Ramos, Mara Lúcia Schmitz Ferreira Santos, Donna M. Martin, Dan Brooks, Joseph D. Symonds, Ioana Cutcutache, Qian Pan, Zhengmao Hu, Ling Yuan, Evan E. Eichler, Kun Xia, Hui Guo
Published 2022Artigo -
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Common genetic variants on 1p13.2 associate with risk of autism by Kun Xia, Hui Guo, Zhengmao Hu, Guanglei Xun, Lingjun Zuo, Yu Peng, Keheng Wang, Yijing He, Zhengang Xiong, Linlin Sun, Qian Pan, Z Long, Xiaobing Zou, Xiaoyu Li, Wenjun Li, Xiaojing Xu, Liping Lu, Yukun Liu, Yuantai Hu, Di Tian, Long Liu, Jianjun Ou, Yukun Liu, Xiaoyu Li, Ling Zhang, Yongcheng Pan, Jianxi Chen, Hui Peng, 豊 大根田, Xuerong Luo, Wei Su, Lingqian Wu, Desheng Liang, H Dai, Xin Yan, Yong Feng, Beisha Tang, Jinchen Li, Zosia Miedzybrodzka, Junfeng Xia, Zhiwu Zhang, Xuerong Luo, Xiang Zhang, David St Clair, J. Zhao, Fengyu Zhang
Published 2013Artigo -
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Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model by Hui Guo, Tianyun Wang, Huidan Wu, Long Min, Bradley P. Coe, Honghui Li, Guanglei Xun, Jianjun Ou, Biyuan Chen, Guiqin Duan, Ting Bai, Ningxia Zhao, Yidong Shen, Yun Li, Yazhe Wang, Yu Zhang, Carl Baker, Yanling Liu, Nan Pang, Li’an Huang, Lin Han, Xiangbin Jia, Cenying Liu, Hailun Ni, Xinyi Yang, Lu Xia, Jingjing Chen, Lu Shen, Ying Li, Rongjuan Zhao, Wenjing Zhao, Jing Peng, Qian Pan, Zhigao Long, Wei Su, Jieqiong Tan, Xiaogang Du, Xiaoyan Ke, Meiling Yao, Zhengmao Hu, Xiaobing Zou, Jingping Zhao, Raphael Bernier, Evan E. Eichler, Kun Xia
Published 2018Artigo
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