Associated Papers
Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.
Zhang L et al.
Genome Medicine, 2025
Erratum: Vanishing White Matter Disease With EIF2B2 c.254T>A Variant: Mild Clinical and MRI Findings.
Kakumoto T et al.
Neurology. Genetics, 2025
Vanishing White Matter Disease With EIF2B2 c.254 >A Variant: Mild Clinical and MRI Findings.
Kakumoto T et al.
Neurology. Genetics, 2025
Epidemiology, Genetic Etiology, and Intervention of Premature Ovarian Insufficiency.
Guo T et al.
Endocrine Reviews, 2025
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
Adult-Onset EIF2B-Pathies: A Clinical, Imaging and Genetic Profiling with Literature Review.
Thuppanattumadam Ananthasubramanian S et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 2023
Landscape of pathogenic mutations in premature ovarian insufficiency.
Ke H et al.
Nature Medicine, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.
Liu T et al.
Nature Communications, 2022
Genetic etiologic analysis in 74 Chinese Han women with idiopathic premature ovarian insufficiency by combined molecular genetic testing.
Shen J et al.
Journal of Assisted Reproduction and Genetics, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Correlation Between Genotype and Age of Onset in Leukoencephalopathy With Vanishing White Matter.
Deng J et al.
Frontiers in Genetics, 2021
Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia.
Wei C et al.
Bmc Neurology, 2019
Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice.
Tucker EJ et al.
European Journal of Human Genetics : Ejhg, 2018
Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel.
Kunii M et al.
Clinical Genetics, 2018
eIF2B-related multisystem disorder in two sisters with atypical presentations.
Lee JS et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2017
Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease.
Shimada S et al.
Brain & Development, 2015
Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.
Zhang H et al.
Plos One, 2015
An autopsy case of infantile-onset vanishing white matter disease related to an EIF2B2 mutation (V85E) in a hemizygous region.
Hata Y et al.
International Journal of Clinical and Experimental Pathology, 2014
An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease.
Shimada S et al.
American Journal of Medical Genetics. Part A, 2012
[Case of adult onset vanishing white matter disease developed after minor head trauma].
Koga S et al.
Rinsho Shinkeigaku = Clinical Neurology, 2012
Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.
Matsukawa T et al.
Neurogenetics, 2011
Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bɛ (eIF2Bɛ) identified in Chinese patients with vanishing white matter disease.
Leng X et al.
Journal of Human Genetics, 2011