Publications
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Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genet Med. 2021 ;23(9):1715-1725.
. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 ;23(11):2122-2137.
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