Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders
Quan, Yingting, Zhang, Qiumeng, Chen, Meilin, Wu, Huidan, Ou, Jianjun, Shen, Yidong, Li, Kuokuo, Xun, Guanglei, Zhao, Jingping, Hu, Zhengmao, Xia, Kun, Guo, Hui
Published in Journal of molecular neuroscience (01.12.2020)
Published in Journal of molecular neuroscience (01.12.2020)
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Nance–Horan syndrome pedigree due to a novel microdeletion and skewed X chromosome inactivation
Huang, Yazhou, Ma, Linya, Zhang, Zhaoxia, Nie, Shujuan, Zhou, Yuan, Zhang, Jibo, Wang, Chao, Fang, Xingxin, Quan, Yingting, He, Ting, Liu, Anhui, Peng, Dan
Published in Molecular genetics & genomic medicine (01.02.2023)
Published in Molecular genetics & genomic medicine (01.02.2023)
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POGZ de novo missense variants in neuropsychiatric disorders
Zhao, Wenjing, Quan, Yingting, Wu, Huidan, Han, Lin, Bai, Ting, Ma, Linya, Li, Bin, Xun, Guanglei, Ou, Jianjun, Zhao, Jingping, Hu, Zhengmao, Guo, Hui, Xia, Kun
Published in Molecular genetics & genomic medicine (01.09.2019)
Published in Molecular genetics & genomic medicine (01.09.2019)
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Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders
Han, Lin, Chen, Meilin, Wang, Yazhe, Wu, Huidan, Quan, Yingting, Bai, Ting, Li, Kuokuo, Duan, Guiqin, Gao, Yan, Hu, Zhengmao, Xia, Kun, Guo, Hui
Published in Molecular genetics & genomic medicine (01.07.2019)
Published in Molecular genetics & genomic medicine (01.07.2019)
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Loss-of-function of KMT5B leads to neurodevelopmental disorder and impairs neuronal development and neurogenesis
Chen, Guodong, Han, Lin, Tan, Senwei, Jia, Xiangbin, Wu, Huidan, Quan, Yingting, Zhang, Qiumeng, Yu, Bin, Hu, Zhengmao, Xia, Kun, Guo, Hui
Published in Journal of genetics and genomics (01.09.2022)
Published in Journal of genetics and genomics (01.09.2022)
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Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders
Chen, Meilin, Quan, Yingting, Duan, Guiqin, Wu, Huidan, Bai, Ting, Wang, Yazhe, Zhou, Shimin, Ou, Jianjun, Shen, Yidong, Hu, Zhengmao, Xia, Kun, Guo, Hui
Published in European journal of medical genetics (01.05.2021)
Published in European journal of medical genetics (01.05.2021)
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Excess of RALGAPB de novo variants in neurodevelopmental disorders
Shah, Abid Ali, Zhang, Ge, Li, Kuokuo, Liu, Chenbin, Kanhar, Ashafaque Ahmad, Wang, Meng, Quan, Yingting, Wu, Huidan, Shen, Lu, Khan, Rizwan, Chen, Guodong, Ou, Jianjun, Hu, Zhengmao, Xia, Kun, Guo, Hui
Published in European journal of medical genetics (01.11.2020)
Published in European journal of medical genetics (01.11.2020)
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