Publications
Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med 9, 83 (2017).
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res 45, 1633-1648 (2017).
Secondary findings and carrier test frequencies in a large multiethnic sample. Genome Med 7, 54 (2015).
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions. Genet Med 22, 1768-1776 (2020).