Xuewen Cheng

机构：Shanghai Library · ORCID：0000-0001-9898-4404

发表论文 39 篇 · 总被引 1158 次 · h-index 17

代表论文

• Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification (2018 · Neuron · 被引 157)
• Trio-based exome sequencing arrests de novo mutations in early-onset high myopia (2017 · Proceedings of the National Academy of Sciences · 被引 113)
• PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum (2017 · Cell Research · 被引 103)
• Loss of function of CMPK2 causes mitochondria deficiency and brain calcification (2022 · Cell Discovery · 被引 60)
• UBE3A-mediated PTPA ubiquitination and degradation regulate PP2A activity and dendritic spine morphology (2019 · Proceedings of the National Academy of Sciences · 被引 48)
• CDKL5 deficiency in forebrain glutamatergic neurons results in recurrent spontaneous seizures (2021 · Epilepsia · 被引 45)