Publications
Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing. NAR Genom Bioinform 3, lqab037 (2021).
A genome-wide case-only test for the detection of digenic inheritance in human exomes. Proc Natl Acad Sci U S A 117, 19367-19375 (2020).
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science 370, (2020).