Publications
Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1. Am J Med Genet A 164A, 2407-11 (2014).
An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell 168, 830-842.e7 (2017).
Objective measures of sleep disturbances in children with Potocki-Lupski syndrome. Am J Med Genet A 179, 1982-1986 (2019).
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?. Parkinsonism Relat Disord 61, 245-247 (2019).
Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea. Hepatology 71, 1879-1882 (2020).
Otitis media susceptibility and shifts in the head and neck microbiome due to variants. J Med Genet (2020). doi:10.1136/jmedgenet-2020-106844
Optimized sample selection for cost-efficient long-read population sequencing. Genome Res 31, 910-918 (2021).