Merel A Post

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

K. Stefánsson, O. Thorarensen, U. Engelke, 2021, Frontiers in Neurology.

The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner

F. Cremers, C. Gilissen, S. Roosing, 2022, Cells.

Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes

M. Verbeek, D. Lefeber, J. Jacobs, 2023, International journal of molecular sciences.

Title: N-linked glycosylation of the M-protein variable region: Glycoproteogenomics reveals a new layer of personalized complexity in multiple myeloma. Running title: M-protein glycosylation in Multiple Myeloma Authors

I. Joosten, D. Lefeber, M. Vanduijn, 2023 .