Xiao Mao (Mao Xiao)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 10

Top Topics

Intellectual Disability

Top Venues

Clinical case reports

Journal of medical genetics

Human molecular genetics

Molecular genetics & genomic medicine

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

Publications

Dandan Ling, Wanqin Xie, Xiao Mao, Shengzhi Yang, Haiyan Pang, Ping Yang, Ping Shen, Yabing Tang
Compound heterozygous B3GALNT2 mutations in a fetus with encephalocele: A case report. Clinical case reports 12 (4) (2024)
Dandan Ling, Wanqin Xie, Xiao Mao, Shengzhi Yang, Haiyan Pang, Ping Yang, Ping Shen, Yabing Tang
Compound heterozygous B3GALNT2 mutations in a fetus with encephalocele: A case report. Clinical case reports 12 (4) (2024)
Juan Li, Shiyue Mei, Xiao Mao, Lily Wan, Hua Wang, Bo Xiao, Yanmin Song, Weiyue Gu, Yan Liu, Lili Long
De novo variants in KCNJ3 are associated with early-onset epilepsy. Journal of medical genetics (2023)
Yan Huang, Mengqi Ma, Xiao Mao, Davut Pehlivan, Oguz Kanca, Feride Un-Candan, Li Shu, Gulsen Akay, Tadahiro Mitani, Shenzhao Lu, Sukru Candan, Hua Wang, Bo Xiao, James R Lupski, Hugo J Bellen
Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms. Human molecular genetics 31 (16) (2022)
Mengqi Ma, Xi Zhang, Yiming Zheng, Shenzhao Lu, Xueyang Pan, Xiao Mao, Hongling Pan, Hyung-Lok Chung, Hua Wang, Hong Guo, Hugo J Bellen
The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival. Human molecular genetics (2022)
Yue Niu, Qiaoqiao Qian, Juan Li, Pan Gong, Xianru Jiao, Xiao Mao, Bo Xiao, Lili Long, Zhi-Xian Yang
De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype. Clinical genetics 101 (4) (2022)
Juan Li, Yu Yuan, Chaorong Liu, Yuchen Xu, Neng Xiao, Hongyu Long, Zhaohui Luo, Shujuan Meng, Hua Wang, Bo Xiao, Xiao Mao, Lili Long
DNAH14 variants are associated with neurodevelopmental disorders. Human mutation 43 (7) (2022)
Xiao Neng, Xiao Mao, Chen Yuanlu, Li Qinyan, Shu Li, Song Zhanyi
Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicine. Molecular genetics & genomic medicine 8 (7) (2020)
Alka Malhotra, Alban Ziegler, Li Shu, Renee Perrier, Louise Amlie-Wolf, Elizabeth Wohler, Nara Lygia de Macena Sobreira, Estelle Colin, Adeline Vanderver, Omar Sherbini, Katrien Stouffs, Emmanuel Scalais, Alessandro Serretti, Magalie Barth, Benjamin Navet, Paul Rollier, Hui Xi, Hua Wang, Hainan Zhang, Denise L Perry, Alessandra Ferrarini, Roberto Colombo, Alexander Pepler, Adele Schneider, Kiyotaka Tomiwa, Nobuhiko Okamoto, Naomichi Matsumoto, Noriko Miyake, Ryan Taft, Xiao Mao, Dominique Bonneau
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features. Journal of medical genetics 58 (10) (2020)
Di Tian, Khan Rizwan, Yi Liu, Lulu Kang, Yanlin Yang, Xiao Mao, Li Shu
Biallelic pathogenic variants in TBCD-related neurodevelopment disease with mild clinical features. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 40 (11) (2019)