Associated Papers
Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy.
Miyamoto Y et al.
Journal of Human Genetics, 2025
Multiplexed in vivo base editing identifies functional gene-variant-context interactions.
Acosta J et al.
Biorxiv : the Preprint Server for Biology, 2025
40060482 (PubMed )
Supplement: media-4.xlsx › Table_S2A
Clinical utility of exome sequencing in a pediatric epilepsy cohort.
Graifman JL et al.
Epilepsia, 2023
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.
Cornthwaite M et al.
Prenatal Diagnosis, 2022
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