Associated Papers
Epilepsy due to a MED25 Homozygous Pathogenic Founder Variant.
Ng AC et al.
Journal of Child Neurology, 2025
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
40770811 (PubMed )
Supplement: 13073_2025_1513_MOESM2_ESM.xlsx › ST10
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM3_ESM.xlsx › Disease_under_NMND
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
Maini I et al.
Neurogenetics, 2021
Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients.
Haynes D et al.
American Journal of Medical Genetics. Part A, 2020
Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation.
Nair P et al.
Molecular Syndromology, 2019
COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?
Nair P et al.
Molecular Syndromology, 2019
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