De novo genic mutations among a Chinese autism spectrum disorder cohort von Wang, Tianyun, Guo, Hui, Xiong, Bo, Stessman, Holly A.F., Wu, Huidan, Coe, Bradley P., Turner, Tychele N., Liu, Yanling, Zhao, Wenjing, Hoekzema, Kendra, Vives, Laura, Xia, Lu, Tang, Meina, Ou, Jianjun, Chen, Biyuan, Shen, Yidong, Xun, Guanglei, Long, Min, Lin, Janice, Kronenberg, Zev N., Peng, Yu, Bai, Ting, Li, Honghui, Ke, Xiaoyan, Hu, Zhengmao, Zhao, Jingping, Zou, Xiaobing, Xia, Kun, Eichler, Evan E.

Volltext

The role of genetics in Parkinson's disease: a large cohort study in Chinese mainland population von Zhao, Yuwen, Qin, Lixia, Pan, Hongxu, Liu, Zhenhua, Jiang, Li, He, Yan, Zeng, Qian, Zhou, Xun, Zhou, Xiaoxia, Zhou, Yangjie, Fang, Zhenghuan, Wang, Zheng, Xiang, Yaqin, Yang, Honglan, Wang, Yige, Zhang, Kailin, Zhang, Rui, He, Runcheng, Zhou, Xiaoting, Zhou, Zhou, Yang, Nannan, Liang, Dongxiao, Chen, Juan, Zhang, Xuxiang, Zhou, Yao, Liu, Hongli, Deng, Penghui, Xu, Kun, Xu, Ke, Zhou, Chaojun, Zhong, Junfei, Xu, Qian, Sun, Qiying, Li, Bin, Zhao, Guihu, Wang, Tao, Chen, Ling, Shang, Huifang, Liu, Weiguo, Chan, Piu, Xue, Zheng, Wang, Qing, Guo, Li, Wang, Xuejing, Xu, Changshui, Zhang, Zhentao, Chen, Tao, Lei, Lifang, Zhang, Hainan, Wang, Chunyu, Tan, Jieqiong, Yan, Xinxiang, Shen, Lu, Jiang, Hong, Zhang, Zhuohua, Hu, Zhengmao, Xia, Kun, Yue, Zhenyu, Li, Jinchen, Guo, Jifeng, Tang, Beisha

Volltext

Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders von Li, Jinchen, Wang, Lin, Guo, Hui, Shi, Leisheng, Zhang, Kun, Tang, Meina, Hu, Shanshan, Dong, Shanshan, Liu, Yanling, Wang, Tianyun, Yu, Ping, He, Xin, Hu, Zhengmao, Zhao, Jinping, Liu, Chunyu, Sun, Zhong Sheng, Xia, Kun

Volltext

Suppression of Akt-mTOR pathway rescued the social behavior in Cntnap2-deficient mice von Xing, Xiaoliang, Zhang, Jing, Wu, Kunyang, Cao, Beibei, Li, Xianfeng, Jiang, Fang, Hu, Zhengmao, Xia, Kun, Li, Jia-Da

Volltext

Investigation of Gene Regulatory Networks Associated with Autism Spectrum Disorder Based on MiRNA Expression in China von Huang, Fengzhen, Long, Zhe, Chen, Zhao, Li, Jiada, Hu, Zhengmao, Qiu, Rong, Zhuang, Wei, Tang, Beisha, Xia, Kun, Jiang, Hong

Volltext

Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy von 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

Volltext

Clinical and genetic features of Charcot-Marie-Tooth disease patients with IGHMBP2 mutations von Lei, Liu, Zhiqiang, Lin, Xiaobo, Li, Zhengmao, Hu, Shunxiang, Huang, Huadong, Zhao, Beisha, Tang, Ruxu, Zhang

Volltext

Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients von Zhu, Guanghui, Zheng, Yu, Liu, Yaoxi, Yan, An, Hu, Zhengmao, Yang, Yongjia, Xiang, Shiting, Li, Liping, Chen, Weijian, Peng, Yu, Zhong, Nanbert, Mei, Haibo

Volltext

Transcriptome-wide analysis of differentially expressed chemokine receptors, SNPs, and SSRs in the age-related macular degeneration von Saddala, Madhu Sudhana, Lennikov, Anton, Mukwaya, Anthony, Fan, Lijuan, Hu, Zhengmao, Huang, Hu

Volltext

A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family von Wang, Binghao, Li, Xiaobo, Huang, Shunxiang, Zhao, Huadong, Liu, Jun, Hu, Zhengmao, Lin, Zhiqiang, Liu, Lei, Xie, Yongzhi, Jin, Qingwen, Zhao, Huihui, Tang, Beisha, Niu, Qi, Zhang, Ruxu

Volltext

Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model von 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

Volltext

Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders von Li, Kuokuo, Fang, Zhenghuan, Zhao, Guihu, Li, Bin, Chen, Chao, Xia, Lu, Wang, Lin, Luo, Tengfei, Wang, Xiaomeng, Wang, Zheng, Zhang, Yi, Jiang, Yi, Pan, Qian, Hu, Zhengmao, Guo, Hui, Tang, Beisha, Liu, Chunyu, Sun, Zhongsheng, Xia, Kun, Li, Jinchen

Volltext

Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia von Shi, Yuting, Wang, Junling, Li, Jia-Da, Ren, Haigang, Guan, Wenjuan, He, Miao, Yan, Weiqian, Zhou, Ying, Hu, Zhengmao, Zhang, Jianguo, Xiao, Jingjing, Su, Zheng, Dai, Meizhi, Wang, Jun, Jiang, Hong, Guo, Jifeng, Zhou, Yafang, Zhang, Fufeng, Li, Nan, Du, Juan, Xu, Qian, Hu, Yacen, Pan, Qian, Shen, Lu, Wang, Guanghui, Xia, Kun, Zhang, Zhuohua, Tang, Beisha

Volltext

GIGYF1 disruption associates with autism and impaired IGF-1R signaling von Chen, Guodong, Yu, Bin, Tan, Senwei, Tan, Jieqiong, Jia, Xiangbin, Zhang, Qiumeng, Zhang, Xiaolei, Jiang, Qian, Hua, Yue, Han, Yaoling, Luo, Shengjie, Hoekzema, Kendra, Bernier, Raphael A, Earl, Rachel K, Kurtz-Nelson, Evangeline C, Idleburg, Michaela J, Madan-Khetarpal, Suneeta, Clark, Rebecca, Sebastian, Jessica, Fernandez-Jaen, Alberto, Alvarez, Sara, King, Staci D, Ramos, Luiza L.P, Santos, Mara Lucia S.F, Martin, Donna M, Brooks, Dan, Symonds, Joseph D, Cutcutache, Ioana, Pan, Qian, Hu, Zhengmao, Yuan, Ling, Eichler, Evan E, Xia, Kun, Guo, Hui

Volltext

Expression of expanded GGC repeats within NOTCH2NLC causes cardiac dysfunction in mouse models von Pan, Yongcheng, Jiang, Ying, Wan, Juan, Hu, Zhengmao, Jiang, Hong, Shen, Lu, Tang, Beisha, Tian, Yun, Liu, Qiong

Volltext

Case Report: A de novo Variant of CRYGC Gene Associated With Congenital Cataract and Microphthalmia von Peng, Yu, Zheng, Yu, Deng, Zifeng, Zhang, Shuju, Tan, Yilan, Hu, Zhengmao, Tao, Lijuan, Luo, Yulin

Volltext

Case Report: MYO5B Homozygous Variant c.2090+3A>T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea von Zheng, Yu, Peng, Yuming, Zhang, Shuju, Zhao, Hongmei, Chen, Weijian, Yang, Yongjia, Hu, Zhengmao, Yin, Qiang, Peng, Yu

Volltext

Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders von Quan, Yingting, Zhang, Qiumeng, Chen, Meilin, Wu, Huidan, Ou, Jianjun, Shen, Yidong, Li, Kuokuo, Xun, Guanglei, Zhao, Jingping, Hu, Zhengmao, Xia, Kun, Guo, Hui

Volltext

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family von Niu, Zhijie, Feng, Yong, Mei, Lingyun, Sun, Jie, Wang, Xueping, Wang, Juncheng, Hu, Zhengmao, Dong, Yunpeng, Chen, Hongsheng, He, Chufeng, Liu, Yalan, Cai, Xinzhang, Liu, Xuezhong, Jiang, Lu

Volltext

A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred von Ahmed, Ashfaque, Wang, Meng, Khan, Rizwan, Shah, Abid Ali, Guo, Hui, Malik, Sajid, Xia, Kun, Hu, Zhengmao

Volltext