Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Genetic Microcephaly in a Saudi Population: Unique Spectrum of Affected Genes Including a Novel One.
Alrifai MT et al.
Journal of Child Neurology, 2024
The diagnostic yield of CGH and WES in neurodevelopmental disorders.
Alotibi RS et al.
Frontiers in Pediatrics, 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
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
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
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
The landscape of early infantile epileptic encephalopathy in a consanguineous population.
Nashabat M et al.
Seizure, 2019
Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.
Davids M et al.
Human Mutation, 2019
West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations.
Shaukat Q et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2018
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.
Kothur K et al.
Seizure, 2018
Novel Homozygous Mutation in the WWOX Gene Causes Seizures and Global Developmental Delay: Report and Review.
Ehaideb SN et al.
Translational Neuroscience, 2018
Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations.
Alabdullatif MA et al.
Clinical Genetics, 2017
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Severe CNS involvement in WWOX mutations: Description of five new cases.
Tabarki B et al.
American Journal of Medical Genetics. Part A, 2015