W. van der Pol

Biomarker profiles of endothelial activation and dysfunction in rare systemic autoimmune diseases: implications for cardiovascular risk.

J. Tekstra, E. D. De Jong, T. Radstake, 2020, Rheumatology.

Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy

Ewout J. N. Groen, L. H. van den Berg, J. Veldink, 2019, Neurology: Genetics.

Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

S. Ferdinandusse, H. Waterham, R. Wanders, 2019, Journal of inherited metabolic disease.

Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease

F. Ruissen, F. Baas, J. Samijn, 2010, European Journal of Human Genetics.