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Dr. M.M. Motazacker PhD

Position
Scientific staff member (UD)
Main activities
Patient care, Research
Specialisation
Laboratory Specialist in Clinical Genetics (Human Molecular Genetics)
Focus of research

Application of next-generation sequencing (genome, exome and targeted sequencing) in patient care with focus on intellectual disability/developmental delay, epilepsy, cardiovascular diseases and genetics of CLL.

Key publications
  • Motazacker MM, Pirhonen J, van Capelleveen JC, Weber-Boyvat M, Kuivenhoven JA, Shah S, Hovingh GK, Metso J, Li S, Ikonen E, Jauhiainen M, Dallinga-Thie GM, Olkkonen VM, A loss-of-function variant in OSBPL1A predisposes to low plasma HDL cholesterol levels and impaired cholesterol efflux capacity. ATHEROSCLEROSIS 2016;249:140-147 [PubMed]
  • Motazacker MM, Peter J, Treskes M, Shoulders CC, Kuivenhoven JA, Hovingh GK, Evidence of a polygenic origin of extreme high-density lipoprotein cholesterol levels. ARTERIOSCL THROM VAS 2013;33 (7):1521-1528 [PubMed]
  • Motazacker MM, Pirruccello J, Huijgen R, Do R, Gabriel S, Peter J, Kuivenhoven JA, Defesche JC, Kastelein JJP, Hovingh GK, Zelcer N, Kathiresan S, Fouchier SW, Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia. EUR HEART J 2012;33 (11):1360-1366 [PubMed]
  • Holleboom AG, Kuivenhoven JA, Peelman F, Schimmel AW, Peter J, Defesche JC, Kastelein JJP, Hovingh GK, Stroes ES, Motazacker MM, High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations. HUM MUTAT 2011;32 (11):1290-1298 [PubMed]
  • Motazacker MM, Rost BR, Hucho T, Garshasbi M, Kahrizi K, Ullmann R, Abedini SS, Nieh SE, Amini SH, Goswami C, Tzschach A, Jensen LR, Schmitz D, Ropers HH, Najmabadi H, Kuss AW, A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. AM J HUM GENET 2007;81 (4):792-798 [PubMed]
All Publications
Research programmes

Prof. dr. M.M.A.M. Mannens (Genome diagnostics i.p. epigenetics of disease)