Associated Papers
Monogenic defects in Russian children with autism spectrum disorders.
Suspitsin EN et al.
World Journal of Clinical Pediatrics, 2025
Case report: Surgical disconnection for medically refractory epilepsy in ARID1B-related Coffin-Siris syndrome.
Ye XL et al.
Epilepsy & Behavior Reports, 2025
Predicted loss-of-function variants before Met584 in ARID1B in population cohorts likely reflect reduced penetrance and should be reported diagnostically.
van der Sluijs PJ et al.
Genome Medicine, 2025
Beyond the Curtains: Identification of the Genetic Cause of Foetal Developmental Abnormalities Through the Application of Molecular Autopsy.
Spedicati B et al.
Genes, 2025
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
van der Sluijs PJ et al.
Genes, 2021
34440449 (PubMed )
Supplement: genes-12-01275-s001.zip › 1genes-1288097_SUPPLEMENTARY-MATERIAL_18082021.pdf
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