Jiangxi Xiao

Peking University — China

Biochemistry, Genetics and Molecular Biology · Life Sciences

23h-index1.8kcitations98works0.02yr avg
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Research Topics

Muscle Physiology and Disorders(25), Mitochondrial Function and Pathology(19), RNA regulation and disease(19), Metabolism and Genetic Disorders(13), RNA Research and Splicing(9)

Publications96 total

Comparison of Targeted Biopsy and Combined Biopsy to Avoid Unnecessary Systematic Biopsy in Patients with PI-RADS 5 Lesions
Biomedicines·2023· 1 citedOpen Access
Identification of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease
Minerva Pediatrics·2023· 6 cited
Unraveling rare form of adult-onset NIID by characteristic brain MRI features: A single-center retrospective review
Frontiers in Neurology·2022· 6 citedOpen Access
The recurrent mutation in <i>RNF220</i> also causes hypomyelination in China and is a CpG hot spot
Brain·2022· 2 citedOpen Access
[Clinical and genetic analysis of three children with 22q13 deletion syndrome].
PubMed·2022
Thigh MRI in antisynthetase syndrome, and comparisons with dermatomyositis and immune-mediated necrotizing myopathy
Lara D. Veeken·2022· 19 cited
Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy
Cells·2022· 10 citedOpen Access
Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients
Frontiers in Genetics·2022· 6 citedOpen Access
Muscle magnetic resonance imaging in patients with LAMA2-related muscular dystrophy
Neuromuscular Disorders·2021· 6 cited
Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus–Merzbacher Disease
Neuroscience·2021· 5 citedOpen Access
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing
Journal of Human Genetics·2021· 42 citedOpen Access
A deep learning model for diagnosing dystrophinopathies on thigh muscle MRI images
BMC Neurology·2021· 19 citedOpen Access
Research on BOLD‐fMRI Data Denoising Based on Bayesian Estimation and Adaptive Wavelet Threshold
Oxidative Medicine and Cellular Longevity·2021· 1 citedOpen Access
Association of Brain Iron Overload With Brain Edema and Brain Atrophy After Intracerebral Hemorrhage
Frontiers in Neurology·2020· 15 citedOpen Access
Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients
Chinese Medical Journal·2020· 2 citedOpen Access
Comparison of the Efficacy and Safety of the American Thyroid Association Guidelines and American College of Radiology TI-RADS
Endocrine Practice·2020· 8 cited
Phenotypic spectrum of patients with <i>GABRB2</i> variants: from mild febrile seizures to severe epileptic encephalopathy
Developmental Medicine & Child Neurology·2020· 18 citedOpen Access
Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex
Orphanet Journal of Rare Diseases·2019· 18 citedOpen Access
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy
The American Journal of Human Genetics·2019· 88 citedOpen Access
Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models
World Journal of Pediatrics·2019· 8 citedOpen Access
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Frequent Co-authors

Yun Yuan(18), Yuwu Jiang(16), Jingmin Wang(13), Zhaoxia Wang(12), Ye Wu(11), Xiru Wu(11), Hui Xiong(10), Yiming Zheng(9), Wei Zhang(9), Huifang Yan(8), Yanling Yang(8), Sheng Xie(7), Yuehua Zhang(7), He Lv(6), Qiang Gu(6), Ying Zhu(6), Yining Huang(5), Haoran Ji(5), Zhao-xia Wang(5), Zhiying Xie(5)