Publications
A novel homozygous variant in results in a neurodevelopmental disorder and disrupts TRAPP complex function. J Med Genet (2020). doi:10.1136/jmedgenet-2020-107016
Homozygous noncanonical splice variant in in two siblings with multiple congenital anomalies and global developmental delay. Cold Spring Harb Mol Case Stud 5, (2019).
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet 27, 1081-1089 (2019).