Associated Papers
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026
41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_2.pdf
Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling.
Zhou F et al.
Brain and Behavior, 2025
Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing.
Guo R et al.
Scientific Reports, 2025
40715143 (PubMed )
Supplement: 41598_2025_6977_MOESM2_ESM.xlsx › Sheet1
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
38817903 (PubMed )
Supplement: Table_3.xlsx › Sheet1
The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese.
Chen YP et al.
European Journal of Neurology, 2022
35861376 (PubMed )
Supplement: supplement_1.pdf
Case report: A double pathogenic mutation in a patient with late-onset MELAS/PEO overlap syndrome.
Zhao QY et al.
Frontiers in Neurology, 2022
A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family.
Zhu R et al.
Molecular Genetics & Genomic Medicine, 2020
32783365 (PubMed )
Supplement: MGG3-8-e1441-s004.xlsx › Table_S2
Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.
Kasahara T et al.
Psychiatry and Clinical Neurosciences, 2017
Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.
Jiang L et al.
Plos Genetics, 2016
27093186 (PubMed )
Supplement: pgen.1005895.s015.xlsx › Sheet1
Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.
Singh B et al.
Plos One, 2015
[A case of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis with multiple mitochondrial DNA deletions].
Tanaka K et al.
Rinsho Shinkeigaku = Clinical Neurology, 2013
[A case of mitochondrial myopathy with external ophthalmoplegia and ataxic neuropathy].
Mano A et al.
Rinsho Shinkeigaku = Clinical Neurology, 2003
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