S. Ghesquiere

Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency

H. Per, A. Caglayan, S. Kumandas, 2010, Developmental medicine and child neurology.

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

D. Oepkes, E. Sistermans, M. Weiss, 2017, Genetics in Medicine.

The role of phospholipases in lipid modification and atherosclerosis

M. Hofker, M. Winther, S. Ghesquiere, 2007, Cardiovascular Toxicology.

Macrophage Secretory Phospholipase A2 Group X Enhances Anti-inflammatory Responses, Promotes Lipid Accumulation, and Contributes to Aberrant Lung Pathology*

I. van der Made, D. Greaves, M. Hofker, 2008, Journal of Biological Chemistry.

Macrophage-specific overexpression of group IIa sPLA2 increases atherosclerosis and enhances collagen deposition Published, JLR Papers in Press, December 1, 2004. DOI 10.1194/jlr.M400253-JLR200

I. van der Made, B. Johansen, M. Hofker, 2005, Journal of Lipid Research.

Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy–Walker malformation

J. Herbergs, M. Vreeburg, A. Stegmann, 2008, American journal of medical genetics. Part A.

Improving the diagnostic yield for filaggrin; concealed mutations in the Dutch population.

P. Steijlen, I. Nagtzaam, A. Gostyński, 2020, The Journal of allergy and clinical immunology.