Earnest J P Daniel

Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele

H. Freeze, H. Mora-Montes, K. Raymond, 2021, Frontiers in Genetics.

DDOST‐CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype

H. Freeze, M. Shinawi, M. He, 2022, Journal of inherited metabolic disease.

The structure of the colorectal cancer-associated enzyme GalNAc-T12 reveals how nonconserved residues dictate its function

Jeffrey J. Gray, L. Tabak, T. Gerken, 2019, Proceedings of the National Academy of Sciences.

ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

H. Freeze, K. Bilguvar, J. Christodoulou, 2021, Journal of inherited metabolic disease.

Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG

J. Rosenfeld, D. Nickerson, M. Bamshad, 2021, Journal of inherited metabolic disease.

Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association

H. Freeze, Christina Lam, G. Enns, 2023, Journal of inherited metabolic disease.