Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. Am J Hum Genet 106, 234-245 (2020).
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet 27, 1081-1089 (2019).
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet 104, 1210-1222 (2019).
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet 104, 530-541 (2019).
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. Am J Med Genet A 173, 2763-2771 (2017).