Publications
Export 2 results:
Filters: Author is McConkey, Haley and Keyword is Neurodevelopmental Disorders [Clear All Filters]
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 ;110(5):790-808.
. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 ;23(11):2122-2137.
.