Research output per year
Research output per year
Personal profile
Biography
I am an Assistant Professor at the Department of Cardiology and the Regenerative Medicine Utrecht (RMU) center at UMCU. As a principal investigator, I am leading an independent research line that is based on a clear need from clinics: the identification of molecular mechanisms in carriers of genetic mutations who are at risk of developing genetic cardiomyopathies. My overarching research question is: Why is DNA not the heart’s destiny? - I study the chronological effects of a DNA mutation on the level of DNA/chromatin/RNA/protein but also cellular organelles, whole cells, tissue and the human organism. I aim to redefine cardiomyopathies on a personalized level and design diagnostic, preventive, and treatment strategies with the ultimate goal to timely predict and eradicate them. I use human cardiac tissue and patient-derived human iPSC-cardiomyocyte (hiPSC-CMs) models to investigate cardiomyopathy heterogeneity through next-generation sequencing-based -omics techniques, bioinformatics, high-resolution imaging, and functional studies. I have a medical background but I decided to work as a full-time scientist because I felt that progress made in fundamental research does not reach clinics fast enough.
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Multi-omics integration identifies key upstream regulators of pathomechanisms in hypertrophic cardiomyopathy due to truncating MYBPC3 mutations
Pei, J., Schuldt, M., Nagyova, E., Gu, Z., El Bouhaddani, S., Yiangou, L., Jansen, M., Calis, J. J. A., Dorsch, L. M., Blok, C. S., van den Dungen, N. A. M., Lansu, N., Boukens, B. J., Efimov, I. R., Michels, M., Verhaar, M. C., de Weger, R., Vink, A., van Steenbeek, F. G. & Baas, A. F. & 8 others, , Dec 2021, In: Clinical Epigenetics. 13, 1, p. 1-20 61.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile11 Downloads (Pure) -
Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23
Garnier, S., Harakalova, M., Weiss, S., Mokry, M., Regitz-Zagrosek, V., Hengstenberg, C., Cappola, T. P., Isnard, R., Arbustini, E., Cook, S. A., van Setten, J., Calis, J. J. A., Hakonarson, H., Morley, M. P., Stark, K., Prasad, S. K., Li, J., O'Regan, D. P., Grasso, M. & Müller-Nurasyid, M. & 57 others, , 21 May 2021, In: European heart journal. 42, 20, p. 2000-2011 12 p.Research output: Contribution to journal › Article › Academic › peer-review
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A systematic analysis of genetic dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle-specific genes
Harakalová, M., Kummeling, G., Sammani, A., Linschoten, M., Baas, A. F., van der Smagt, J., Doevendans, P. A., van Tintelen, P. J., Dooijes, D., Mokry, M. & Asselbergs, F., May 2015, In: European Journal of Heart Failure. 17, 5, p. 484-493 10 p.Research output: Contribution to journal › Article › Academic › peer-review
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Dominant missense mutations in ABCC9 cause Cantú syndrome
Translated title of the contribution :Dominant missense mutations in ABCC9 cause Cantú syndrome Research output: Contribution to journal › Article › Academic › peer-review
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Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing
Translated title of the contribution :Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing Research output: Contribution to journal › Article › Academic › peer-review