Publications
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). Am J Med Genet A. 2016 ;170(8):2181-5.
. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 ;23(11):2122-2137.
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