Associated Papers
Genetic Diversity in Early Infantile Epileptic Encephalopathy: A Three-Year Cohort Study.
Torbati PN et al.
Pediatric Neurology, 2026
Genetic and Functional Evidence Links Germline Biallelic Inactivating Variants in WWOX to Histological Mixed-Type Thyroid Cancer.
Zhang X et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026
Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.
Gimeno AF et al.
American Journal of Medical Genetics. Part A, 2025
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
Oliver KL et al.
Epilepsia, 2023
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy.
Chong SC et al.
American Journal of Medical Genetics. Part A, 2023
Neuroimaging features of WOREE syndrome: a mini-review of the literature.
Battaglia L et al.
Frontiers in Pediatrics, 2023
Epilepsy in patients with WWOX-related epileptic encephalopathy (WOREE) syndrome
Al Baradie R et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2022
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
Neurological Disorders Associated with WWOX Germline Mutations-A Comprehensive Overview.
Banne E et al.
Cells, 2021
WWOX Loss of Function in Neurodevelopmental and Neurodegenerative Disorders.
Aldaz CM et al.
International Journal of Molecular Sciences, 2020
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development.
Iacomino M et al.
Frontiers in Neuroscience, 2020
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Piard J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews.
Weisz-Hubshman M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2019
WWOX-associated encephalopathies: identification of the phenotypic spectrum and the resulting genotype-phenotype correlation.
Serin HM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay.
Johannsen J et al.
Neurogenetics, 2018
Novel Homozygous Mutation in the WWOX Gene Causes Seizures and Global Developmental Delay: Report and Review.
Ehaideb SN et al.
Translational Neuroscience, 2018