foto

M.M. Motazacker PhD

Position
MD-PhD
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 Mahdi M., Pirhonen Juho, van Capelleveen Julian C., Weber-Boyvat Marion, Kuivenhoven Jan Albert, Shah Saundarya, Hovingh G. Kees, Metso Jari, Li Shiqian, Ikonen Elina, Jauhiainen Matti, Dallinga-Thie Geesje M., Olkkonen Vesa M. 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 Mohammad Mahdi, Peter Jorge, Treskes Marco, Shoulders Carol C., Kuivenhoven Jan Albert, Hovingh G. Kees Evidence of a polygenic origin of extreme high-density lipoprotein cholesterol levels Arteriosclerosis, thrombosis, and vascular biology 2013;33 (7):1521-1528 [PubMed]
  • Motazacker Mohammad Mahdi, Pirruccello James, Huijgen Roeland, Do Ron, Gabriel Stacey, Peter Jorge, Kuivenhoven Jan Albert, Defesche Joep C., Kastelein John J. P., Hovingh G. Kees, Zelcer Noam, Kathiresan Sekar, Fouchier Sigrid W. Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia European heart journal 2012;33 (11):1360-1366 [PubMed]
  • Holleboom Adriaan G., Kuivenhoven Jan A., Peelman Frank, Schimmel Alinda W., Peter Jorge, Defesche Joep C., Kastelein John J. P., Hovingh G. Kees, Stroes Erik S., Motazacker Mohammad Mahdi High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations Human mutation 2011;32 (11):1290-1298 [PubMed]
  • Motazacker Mohammad Mahdi, Rost Benjamin Rainer, Hucho Tim, Garshasbi Masoud, Kahrizi Kimia, Ullmann Reinhard, Abedini Seyedeh Sedigheh, Nieh Sahar Esmaeeli, Amini Saeid Hosseini, Goswami Chandan, Tzschach Andreas, Jensen Lars Riff, Schmitz Dietmar, Ropers Hans Hilger, Najmabadi Hossein, Kuss Andreas Walter A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation American journal of human genetics 2007;81 (4):792-798 [PubMed]
All Publications
Research programmes

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