Stijn Ghesquiere

Improving the diagnostic yield for filaggrin: Concealed mutations in the Dutch population

van Leersum, F. S., Nagtzaam, I. F., van Oosterhoud, C. N., Ghesquiere, S. A. I., Brandts, R. R. H. F. J., Gostynski, A., Steijlen, P. M. & van Geel, M., Jun 2020, In: Journal of Allergy and Clinical Immunology. 145, 6, p. 1704 9 p.

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

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

Van Opstal, D., van Maarle, M. C., Lichtenbelt, K., Weiss, M. M., Schuring-Blom, H., Bhola, S. L., Hoffer, M. J. V., Huijsdens-van Amsterdam, K., Macville, M. V., Kooper, A. J. A., Faas, B. H. W., Govaerts, L., Tan-Sindhunata, G. M., den Hollander, N., Feenstra, I., Galjaard, R-J. H., Oepkes, D., Ghesquiere, S., Brouwer, R. W. W., Beulen, L., & 7 othersBollen, S., Elferink, M. G., Straver, R., Henneman, L., Page-Christiaens, G. C., Sistermans, E. A. & Dutch NIPT Consortium, 1 May 2018, In: Genetics in Medicine. 20, 5, p. 480-485 6 p.

Research output: Contribution to journal › Article › Academic › peer-review

Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency

Gumus, H., Ghesquiere, S., Per, H., Kondolot, M., Ichida, K., Poyrazoglu, G., Kumandas, S., Engelen, J., Dundar, M. & Caglayan, A. O., Sept 2010, In: Developmental Medicine and Child Neurology. 52, 9, p. 868-872

Research output: Contribution to journal › Article › Academic › peer-review

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

Curfs, D. M., Ghesquiere, S. A., Vergouwe, M. N., van der Made, I., Gijbels, M. J., Greaves, D. R., Verbeek, J. S., Hofker, M. H. & de Winther, M. P., 1 Jan 2008, In: Journal of Biological Chemistry. 283, 31, p. 21640-21648

Research output: Contribution to journal › Article › Academic › peer-review