Jian Wang

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 14

Top Topics

Intellectual Disability

Top Venues

Molecular genetics & genomic medicine

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Brain : a journal of neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Tingting Yu, Guoqiang Li, Chen Wang, Niu Li, Ruen Yao, Jian Wang
Defective joint development and maintenance in GDF6-related multiple synostoses syndrome. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research (2023)
Tingting Yu, Guoqiang Li, Chen Wang, Niu Li, Ruen Yao, Jian Wang
Defective Joint Development and Maintenance in GDF6-Related Multiple Synostoses Syndrome. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research (2023)
Yiyao Chen, Bingxin Yang, Xiaoyu Merlin Zhang, Songchang Chen, Minhui Wang, Liya Hu, Nina Pan, Shuyuan Li, Weihui Shi, Zhenhua Yang, Li Wang, Yajing Tan, Jian Wang, Yanlin Wang, Qinghe Xing, Zhonghua Ma, Jinsong Li, He-Feng Huang, Jinglan Zhang, Xian-Ling Cao
Biallelic variants in RBM42 cause a multisystem disorder with neurological, facial, cardiac, and musculoskeletal involvement. Protein & cell (2023)
Fang Liu, Chen Liang, Zhengchang Li, Sen Zhao, Haiming Yuan, Ruen Yao, Zailong Qin, Shaofang Shangguan, Shujie Zhang, Li-Ping Zou, Qian Chen, Zhijie Gao, Suiwen Wen, Jing Peng, Fei Yin, Fei Chen, Xiaoxia Qiu, Jingsi Luo, Yingjun Xie, Dian Lu, Yu Zhang, Hua Xie, Guozhuang Li, Terry Jianguo Zhang, Pengfei Luan, Hongying Wang, Xiaodai Cui, Hailiang Huang, Ruize Liu, Xiaofang Sun, Chao Chen, Nan Wu, Jian Wang, Yanling Liu, Yiping Shen, James F Gusella, Guozhuang Li
Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment. Brain : a journal of neurology (2023)
Jie Tang, Niu Li, Guoqiang Li, Jian Wang, Tingting Yu, Ru-En Yao
Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients. Genes 13 (12) (2022)
Jie Tang, Niu Li, Guoqiang Li, Jian Wang, Tingting Yu, Ru-En Yao
Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients. Genes 13 (12) (2022)
Xiangbin Jia, Shujie Zhang, Senwei Tan, Bing Du, Mei He, Haisong Qin, Jia Chen, Xinyu Duan, Jingsi Luo, Fei Chen, Luping Ouyang, Jian Wang, Guodong Chen, Bin Yu, Ge Zhang, Zimin Zhang, Yongqing Lyu, Yi Huang, Jian Jiao, Jin Yun Helen Chen, Kathryn J Swoboda, Emanuele Agolini, Antonio Novelli, Chiara Leoni, Giuseppe Zampino, Gerarda Cappuccio, Nicola Brunetti-Pierri, Bénédicte Gérard, Emmanuelle Ginglinger, Julie Richer, Hugh J Mcmillan, Alexandre White-Brown, Kendra Hoekzema, Raphael A Bernier, Evangeline C Kurtz-Nelson, Rachel K Earl, Claartje Meddens, Marielle Alders, Meredith Fuchs, Roseline Caumes, Perrine Brunelle, Thomas Smol, Ryan Kuehl, Debra-Lynn Day-Salvatore, Kristin G Monaghan, Michelle M Morrow, Evan E Eichler, Zhengmao Hu, Ling Yuan, Jieqiong Tan, Kun Xia, Yiping Shen, Hui Guo
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders. Science advances 8 (33) (2022)
Jie Tang, Niu Li, Guoqiang Li, Jian Wang, Tingting Yu, Ru-En Yao
Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients. Genes 13 (12) (2022)
Biyun Feng, Guoying Chang, Qianwen Zhang, Xin Li, Yijun Tang, Shili Gu, Yirou Wang, Jian Wang, Xiumin Wang
A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth. Molecular genetics & genomic medicine 10 (6) (2022)
Jie Tang, Niu Li, Guoqiang Li, Jian Wang, Tingting Yu, Ru-En Yao
Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients. Genes 13 (12) (2022)
Tingting Yu, Yi Zhang, Wen-Qiang Zheng, Siqi Wu, Guoqiang Li, Yong Zhang, Niu Li, Ruen Yao, Pengfei Fang, Jian Wang, Xiao-Long Zhou
Selective degradation of tRNASer(AGY) is the primary driver for mitochondrial seryl-tRNA synthetase-related disease. Nucleic acids research 50 (20) (2022)
Ru-En Yao, Yi Zhang, Jie Liu, Jiwen Wang, Yufei Xu, Niu Li, Jian Wang, Tingting Yu
Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy. Journal of molecular neuroscience : MN 70 (6) (2020)
Qian Chen, Fang Liu, Yu Zhang, Qian Chen, Shaofang Shangguan, Zhijie Gao, Nan Wu, Jian Wang, Xiaodai Cui, Lin Wang, Xiaoli Chen
Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion: A follow-up study of four Chinese children carriers. Molecular genetics & genomic medicine 8 (11) (2020)
Chen Wang, Yufei Xu, Yanrong Qing, Ru-En Yao, Niu Li, Xiumin Wang, Tingting Yu, Jian Wang
TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations. Molecular genetics & genomic medicine 8 (10) (2020)