Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy
Ahmed, Ashfaque, Wang, Meng, Bergant, Gaber, Maroofian, Reza, Zhao, Rongjuan, Alfadhel, Majid, Nashabat, Marwan, AlRifai, Muhammad Talal, Eyaid, Wafaa, Alswaid, Abdulrahman, Beetz, Christian, Qin, Yan, Zhu, Tengfei, Tian, Qi, Xia, Lu, Wu, Huidan, Shen, Lu, Dong, Shanshan, Yang, Xinyi, Liu, Cenying, Ma, Linya, Zhang, Qiumeng, Khan, Rizwan, Shah, Abid Ali, Guo, Jifeng, Tang, Beisha, Leonardis, Lea, Writzl, Karin, Peterlin, Borut, Guo, Hui, Malik, Sajid, Xia, Kun, Hu, Zhengmao
Published in Human genetics (01.04.2021)
Published in Human genetics (01.04.2021)
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Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model
Guo, Hui, Wang, Tianyun, Wu, Huidan, Long, Min, Coe, Bradley P, Li, Honghui, Xun, Guanglei, Ou, Jianjun, Chen, Biyuan, Duan, Guiqin, Bai, Ting, Zhao, Ningxia, Shen, Yidong, Li, Yun, Wang, Yazhe, Zhang, Yu, Baker, Carl, Liu, Yanling, Pang, Nan, Huang, Lian, Han, Lin, Jia, Xiangbin, Liu, Cenying, Ni, Hailun, Yang, Xinyi, Xia, Lu, Chen, Jingjing, Shen, Lu, Li, Ying, Zhao, Rongjuan, Zhao, Wenjing, Peng, Jing, Pan, Qian, Long, Zhigao, Su, Wei, Tan, Jieqiong, Du, Xiaogang, Ke, Xiaoyan, Yao, Meiling, Hu, Zhengmao, Zou, Xiaobing, Zhao, Jingping, Bernier, Raphael A, Eichler, Evan E, Xia, Kun
Published in Molecular autism (13.12.2018)
Published in Molecular autism (13.12.2018)
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Novel mutation of EDA causes new asymmetrical X‐linked hypohidrotic ectodermal dysplasia phenotypes in a female
Shen, Lu, liu, Cenying, Gao, Ming, Li, Hongmei, Zhang, Yaowen, Tian, Qi, Ni, Hailun, Peng, Pengwei, Zhao, Rongjuan, Hu, Zhengmao, Gao, Yuan, Xia, Kun, Bo, Qifang, Guo, Hui
Published in Journal of dermatology (01.08.2019)
Published in Journal of dermatology (01.08.2019)
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Rare NRXN1 missense variants identified in autism interfered protein degradation and Drosophila sleeping
Liu, Yalan, Shen, Lu, Zhang, Yaowen, Zhao, Rongjuan, Liu, Cenying, Luo, Sanchuan, Chen, Jingjing, Xia, Lu, Li, Taoxi, Peng, Yu, Xia, Kun
Published in Journal of psychiatric research (01.11.2021)
Published in Journal of psychiatric research (01.11.2021)
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Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
Guo, Hui, Li, Ying, Shen, Lu, Wang, Tianyun, Jia, Xiangbin, Liu, Lijuan, Xu, Tao, Ou, Mengzhu, Hoekzema, Kendra, Wu, Huidan, Gillentine, Madelyn A, Liu, Cenying, Ni, Hailun, Peng, Pengwei, Zhao, Rongjuan, Zhang, Yu, Phornphutkul, Chanika, Stegmann, Alexander P A, Prada, Carlos E, Hopkin, Robert J, Shieh, Joseph T, McWalter, Kirsty, Monaghan, Kristin G, van Hasselt, Peter M, van Gassen, Koen, Bai, Ting, Long, Min, Han, Lin, Quan, Yingting, Chen, Meilin, Zhang, Yaowen, Li, Kuokuo, Zhang, Qiumeng, Tan, Jieqiong, Zhu, Tengfei, Liu, Yaning, Pang, Nan, Peng, Jing, Scott, Daryl A, Lalani, Seema R, Azamian, Mahshid, Mancini, Grazia M S, Adams, Darius J, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Pevsner, Jonathan, Osei-Owusu, Ikeoluwa A, Romano, Corrado, Calabrese, Giuseppe, Galesi, Ornella, Gecz, Jozef, Haan, Eric, Ranells, Judith, Racobaldo, Melissa, Nordenskjold, Magnus, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Ball, Susie, Zou, Xiaobing, Zhao, Jingping, Hu, Zhengmao, Xia, Fan, Liu, Pengfei, Rosenfeld, Jill A, de Vries, Bert B A, Bernier, Raphael A, Xu, Zhi-Qing David, Li, Honghui, Xie, Wei, Hufnagel, Robert B, Eichler, Evan E, Xia, Kun
Published in Science advances (01.09.2019)
Published in Science advances (01.09.2019)
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