Author

Xiaoyin Peng

Observed names: X Y Peng, Xiao-Yin Peng

Institutions: Capital Medical University, Capital Institute of Pediatrics

Observed institutions: Capital Medical University, Chinese Academy of Medical Sciences & Peking Union Medical College, Capital Institute of Pediatrics, Children's Hospital of Capital Institute of Pediatrics

OpenAlex ID: A5069822596

Congenital muscular dystrophies in China

2019 · Lin Ge, Cheng Zhang, et al. · Clinical Genetics · 46

Factors associated with delayed diagnosis of spinal muscular atrophy in China and changes in diagnostic delay

2021 · Yanyan Cao, Miaomiao Cheng, et al. · Neuromuscular Disorders · 17

Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy

2023 · Jinli Bai, Yujin Qu, et al. · Neuromuscular Disorders · 14

Bone mineral density and its influencing factors in Chinese children with spinal muscular atrophy types 2 and 3

2021 · Xiaoyin Peng, Yujin Qu, et al. · BMC Musculoskeletal Disorders · 11

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Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse model

2021 · Jia Wang, Jinli Bai, et al. · Human Molecular Genetics · 10

Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1–3

2024 · Shijia Ouyang, Xiaoyin Peng, et al. · Frontiers in Neurology · 5

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Variants located in intron 6 of SMN1 lead to misdiagnosis in genetic detection and screening for SMA

2024 · Yujin Qu, Jinli Bai, et al. · Heliyon · 3

Hydrocephalus due to aqueductal stenosis presenting with acute bilateral ptosis: case report

2019 · Mingxing Wu, Xiushan Ge, et al. · British Journal of Neurosurgery · 3

Corrigendum: Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1–3

2024 · Shijia Ouyang, Xiaoyin Peng, et al. · Frontiers in Neurology · 2

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[Effect of comprehensive health management on the prognosis of children with type Ⅰ spinal muscular atrophy].

2020 · X S Ge, Y J Qu, et al. · PubMed · 1

[Clinical manifestations and genetics analysis of collagen type Ⅵ-related myopathy caused by variants in COL6A3 gene].

2019 · X Y Peng, Y J Qu, et al. · PubMed · 1

Clinical presentation and therapeutic outcomes of anti-N-methyl-D-aspartate receptor encephalitis in children

2015 · Xiaoyin Peng, Jingjing Dong, et al. · Zhonghua shiyong erke linchuang zazhi · 1

Molecular Genetic Diagnosis of Spinal Muscular Atrophy: Clinical Utility, Challenges, and Lessons Learned from Illustrative Cases in a Single Center

2026 · Jinli Bai, Qinglin Jiang, et al. · Genes

Clinical spectrum and ascertainment pathways in pediatric female dystrophinopathy

2026 · Hui Jiao, Jinli Bai, et al. · The Italian Journal of Pediatrics/Italian journal of pediatrics

A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy

2025 · Jinli Bai, Ping Li, et al. · The Italian Journal of Pediatrics/Italian journal of pediatrics

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[Clinical characteristics and genetics functional analysis of two children with Spinal muscular atrophy].

2024 · Wenchen Huang, Jinli Bai, et al. · PubMed

[Clinical features of children with febrile seizures caused by Omicron variant infection].

2023 · Jian-Zhao Zhang, Zi-Qi Liu, et al. · PubMed Central

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Associations between Biomarkers, Phenotypes, and Motor Milestones in Chinese Patients with Spinal Muscular Atrophy Types 1-3

2023 · Shijia Ouyang, Xiaoyin Peng, et al. · SSRN Electronic Journal

The diagnostic challenge of atypical tuberculous meningitis in children from rural area

2022 · Jingjing Dong, Xiaoyin Peng · European Journal of Inflammation

Analysis of clinical characteristics and gene mutations of megalencephalic leukoencephalopathy with subcortical cysts in a family

2018 · Yanli Zhu, Xiaoyin Peng, et al. · Zhonghua shiyong erke linchuang zazhi

Clinical observation of high-dose intravenous immunoglobulin gamma globulin in the treatment of children with severe viral encephalitis

2015 · Jingjing Dong, Xiaoyin Peng, et al. · Chin J Obstet Gynecol

Clinical and electrophysiologic characteristics of anti-N-methyl-D-aspartate receptor encephalitis in children

2013 · Xin Wang, Liwen Wang, et al. · Zhonghua shiyong erke linchuang zazhi

Works count: 22

Citation count: 114

H-index: 5

I10-index: 5