Publications
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am J Med Genet A. 2020 ;182(1):38-52.
. REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet. 2017 ;101(1):149-156.
. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Hum Genet. 2016 ;135(12):1399-1409.
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