Sheri A. Poskanzer

Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature

Christina Lam, A. Beck, M. Schultz, 2020, American journal of medical genetics. Part A.

The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

H. Ochs, T. Torgerson, C. Myers, 2020, Molecular genetics & genomic medicine.

p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease

R. Houwen, C. Myers, Jenny M Thies, 2020, JIMD reports.

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.