Publications

Barish S et al. Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia. Am J Hum Genet. 2024;111(11):2566-2581. PMID: 39471804.

Maddirevula S et al. Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.Genet Med. 2019 May;21(5):1164-1172. PMID: 30250217.