Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

(2014) Gregory M. Enns et al.   GENETICS IN MEDICINE

Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

(2013) Hudson H. Freeze   JOURNAL OF BIOLOGICAL CHEMISTRY

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

NMR characterization of the interaction between the PUB domain of peptide:N-glycanase and ubiquitin-like domain of HR23

(2012) Yukiko Kamiya et al.   FEBS LETTERS

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

The skeletal manifestations of the congenital disorders of glycosylation

(2009) D Coman et al.   CLINICAL GENETICS