Publications
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am J Med Genet A 182, 38-52 (2020).
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet 101, 149-156 (2017).
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Hum Genet 135, 1399-1409 (2016).