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Jingmei Hong

ATP1A1mutations cause intermediate Charcot‐Marie‐Tooth disease
2019 · Jin He, Lingling Guo, et al. · Human Mutation · 16
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Identification of SLC20A2 deletions in patients with primary familial brain calcification
2019 · Xin‐Xin Guo, Hui‐Zhen Su, et al. · Clinical Genetics · 16
Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families
2023 · Xiao-xuan Liu, Ning Wang, et al. · Brain · 11
Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia
2024 · Ze-Hong Zheng, Chun-Yan Cao, et al. · Journal of Human Genetics · 4
Drosophila models used to simulate human ATP1A1 gene mutations that cause Charcot-Marie-Tooth type 2 disease and refractory seizures
2023 · Yao Yuan, Lingqi Yu, et al. · Neural Regeneration Research · 4
Genetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction
2020 · Jing-Mei Hong, Miao Zhao, et al. · Chinese Medical Journal · 3
Bi-allelic loss-of function variants in ATP2A1 cause autosomal recessive Brody disease
2025 · Chunyan Cao, Jingmei Hong, et al. · QJM · 1
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Clinical and genetic heterogeneity of adult polyglucosan body disease caused by GBE1 biallelic mutations in China
2023 · Yikun Chen, Yan Shi, et al. · Genes & Diseases · 1
SMN1 mutation spectrum and functional analysis of novel SMN1 variants in a Chinese spinal muscular atrophy cohort
2026 · Gui-He Li, Li-Wen Wu, et al. · Journal of Human Genetics
Works count: 9
Citation count: 56
H-index: 4
I10-index: 3
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