Publications
Using to drive the diagnosis and understand the mechanisms of rare human diseases. Development 147, (2020).
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet (2019). doi:10.1038/s41431-019-0401-x
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing. Eur J Hum Genet 25, 1246-1252 (2017).
Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate. Genet Epidemiol 40, 432-41 (2016).
Utilizing graph theory to select the largest set of unrelated individuals for genetic analysis. Genet Epidemiol 37, 136-41 (2013).
A unified method for detecting secondary trait associations with rare variants: application to sequence data. PLoS Genet 8, e1003075 (2012).