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Shiguo Liu

Functional Study of One Nucleotide Mutation in Pri-MiR-125a Coding Region which Related to Recurrent Pregnancy Loss
2014 · Yi Hu, Zheng-Hao Huo, et al. · PLoS ONE · 28
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Role of Ash1l in Tourette syndrome and other neurodevelopmental disorders
2020 · Cheng Zhang, Lulu Xu, et al. · Developmental Neurobiology · 22
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Whole Exome Sequencing Identifies Recessive PKHD1 Mutations in a Chinese Twin Family with Caroli Disease
2014 · Xiwei Hao, Shiguo Liu, et al. · PLoS ONE · 21
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Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
2021 · Fengqi Wang, Li Xiaole, et al. · Endocrinology · 20
High-Frequency Variant p.T60M in NaCl Cotransporter and Blood Pressure Variability in Han Chinese
2012 · Leping Shao, Yanhua Lang, et al. · American Journal of Nephrology · 20
Chinese expert brief consensus on newborn screening of inherited metabolic disorders during the novel coronavirus infection epidemic
2020 · Shan Liu, Dongjuan Wang, et al. · Annals of Translational Medicine · 13
Next‐generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus
2019 · Fengqi Wang, Hongzai Guan, et al. · Journal of Clinical Laboratory Analysis · 10
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A De novo PAX8 mutation in a Chinese child with congenital thyroid dysgenesis.
2015 · Hui Zou, Jian Chai, et al. · PubMed · 8
ConvBiFuseNet: a parallel fusion model with routing attention for MRI brain tumor classification
2024 · Shiguo Liu, Dejian Wei, et al. · The Journal of Supercomputing · 7
Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome
2021 · Cheng Zhang, Zhenchao Sun, et al. · International Journal of Developmental Neuroscience · 7
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A missense mutation in the androgen receptor gene causing androgen insensitivity syndrome in a Chinese family
2015 · Feng-Yuan Che, Shi-Guo Liu, et al. · Asian Journal of Andrology · 7
Novel compound heterozygous DOCK6 variants expand the mutational spectrum in prenatal diagnosis of Adams-Oliver syndrome 2
2025 · Xue Zhong, Xuan Zheng, et al. · BMC Medical Genomics · 6
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A Novel Homozygous VPS13B Splice-Site Mutation Causing the Skipping of Exon 38 in a Chinese Family With Cohen Syndrome
2021 · Liangshan Li, Xiangmao Bu, et al. · Frontiers in Pediatrics · 6
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Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis
2019 · Liangshan Li, Wenmiao Liu, et al. · Molecular Genetics & Genomic Medicine · 6
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Compound heterozygous DYSF variants causing limb‐girdle muscular dystrophy type 2B in a Chinese family
2020 · Liangshan Li, Zhongcui Jing, et al. · The Journal of Gene Medicine · 5
Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report
2019 · Xianghong Li, Liangshan Li, et al. · BMC Medical Genetics · 5
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A NovelCD40LMutation Associated with X-Linked Hyper IgM Syndrome in a Chinese Family
2019 · Liangshan Li, Jing Ji, et al. · Immunological Investigations · 5
Compound heterozygous CAPN3 variants identified in a family with limb-girdle muscular dystrophy recessive 1
2021 · Cheng Zhang, Xueping Zheng, et al. · Molecular Medicine Reports · 4
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Two novel heterozygous HPDL variants in a Chinese family with a neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
2024 · Yuanxuan Ma, Guixia Li, et al. · Gene · 3
A novel ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family
2019 · Liangshan Li, Jing Yu, et al. · Molecular Medicine Reports · 3
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The first Chinese case of Vici syndrome with novel compound heterozygous sequence variants in EPG5
2021 · Liping Dong, Liangshan Li, et al. · International Journal of Developmental Neuroscience · 2
Genetic and functional analysis of TUBB1 variants in congenital hypothyroidism
2025 · Fang Wang, Chunhui Sun, et al. · Endokrynologia Polska · 1
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GRIN3B gene mutation screening in children with Tourette syndrome
2018 · Yixia Guo, Wenmiao Liu, et al. · Zhonghua shiyong erke linchuang zazhi · 1
Case Report: A Chinese child with Barth syndrome caused by a novel TAFAZZIN mutation
2024 · Mingxuan Che, Fuhai Li, et al. · Frontiers in Cardiovascular Medicine
Bioinformatics Analysis Of Hub Genes And Pathways In Congenital Hypothyroidism
2023 · Mingliang Shan, Xiumei Zhuo, et al. · Research Square
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Works count: 29
Citation count: 210
H-index: 8
I10-index: 7
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