Publications
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet 104, 1210-1222 (2019).
Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med 21, 798-812 (2019).
matchbox: An open-source tool for patient matching via the Matchmaker Exchange. Hum Mutat 39, 1827-1834 (2018).