Publications
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet 96, 612-22 (2015).
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data. Birth Defects Res 111, 1618-1632 (2019).
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med 22, 538-546 (2020).
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A (2020). doi:10.1002/ajmg.a.61908