Karin Huijben

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2016, Nature Communications.

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2012, Human molecular genetics.

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Dian Donnai, Sheila Unger, Andrea Superti-Furga, 2016, Nature Genetics.