Specialization
DNA, NGS, Sequencing, HDL, LDL
Focus of research
To identify novel genes in families in which a strong autosomal dominant trait for extreme lipid disorders or premature atherosclerosis of unknown aetiology is observed.
Amsterdam Cardiovascular Sciences
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Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia
Reeskamp, L. F., Balvers, M., Peter, J., van de Kerkhof, L., Klaaijsen, L. N., Motazacker, M. M., Grefhorst, A., van Riel, N. A. W., Hovingh, G. K., Defesche, J. C. & Zuurbier, L., 1 Mar 2021, In: Atherosclerosis. 321, p. 14-20 7 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Genetic variants in SUSD2 are associated with the risk of ischemic heart disease
Bruikman, C. S., Dalila, N., van Capelleveen, J. C., Kroon, J., Peter, J., Havik, S. R., Willems, M., Huisman, L. C., de Boer, O. J., Hovingh, G. K., Tybjaerg-Hansen, A. & Dallinga-Thie, G. M., 1 Jul 2020, In: Journal of clinical lipidology. 14, 4, p. 470-481 12 p.Research output: Contribution to journal › Article* › Academic › peer-review
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The identification and function of a Netrin-1 mutation in a pedigree with premature atherosclerosis
Bruikman, C. S., Vreeken, D., Zhang, H., van Gils, M. J., Peter, J., van Zonneveld, A. J., Hovingh, G. K. & van Gils, J. M., May 2020, In: Atherosclerosis. 301, p. 84-92 9 p.Research output: Contribution to journal › Article* › Academic › peer-review
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