Tito Onyekweli

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ellen F. Macnamara, M. Westerfield, D. Earl, 2018, American journal of human genetics.

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.

H. Hakonarson, Yiran Guo, D. Adams, 2020, Molecular genetics and metabolism.