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Dr. M. Zamani Esteki

PI, assistant professor

Korte beschrijving


Single-cell omics, reproductive genetics, genomic medicine


Maastricht UMC+
Klinische Genetica
Postbus 5800
6202 AZ Maastricht
T: 043 3871272 / 3871273

Curriculum vitae

Masoud Zamani Esteki is a principle investigator and assistant professor at Maastricht University Medical Centre (MUMC+) and Maastricht University (UM). Masoud’s research lies at the intersection of classical genetics, molecular and developmental genetics, clinical genetics, bioinformatics, and artificial intelligence. During the course of his (post)doctoral research, Masoud has invented methods to study genome instability in early human development with application to the clinic, such as preimplantation genetic testing (PGT) and non-invasive prenatal testing (NIPT). Specifically, he has been developing, applying and translating integrative wet- and dry-lab approaches that uncover the genome’s allelic architecture in samples derived from many cells down to a single cell. Some of these technologies are now being used as routine diagnostic genetic tests.

Masoud leads the Cellular Genomic Medicine group. His group has a general interest in development and application of innovative methods for characterizing different molecular layers, their interplay and connectivity, and their impact on cellular identity and function. In particular at early stages of life. Masoud’s group constantly explores new avenues towards translating their research into the clinic. See Masoud's hope and vision for the field (on the website of Nature Medicine).


  • 2017- Assistant professor (tenure track), Maastricht University Medical Centre & Maastricht University
  • 2017 Postdoctoral scientist, Centre for Human Genetics, KU Leuven, Belgium
  • 2015 PhD in Biomedical Sciences – Molecular and Developmental Genetics, KU Leuven, Belgium
  • 2011 Advanced Master in Artificial Intelligence, KU Leuven, Belgium
  • 2009 Master of Science in Bioinformatics, KU Leuven, Belgium
  • 2007 Bachelor of Science in Molecular Cell Biology – Genetics, Chamran University of Ahvaz, Iran

Honors and awards

  • 2019 Travel grant winner and Finalist for the Joe Leigh Simpson Award for the Best Early Career Investigator, International Society of Prenatal Diagnosis and Therapy (ISPD)
  • 2015 Winner of the International Royan Award for outstanding research in Reproductive Genetics, Tehran
  • 2015 Trainee Paper Spotlight for outstanding publication and research done by trainee members of ASHG
  • 2014 Awarded for the best oral presentation in basic research at PGDIS 2014, Kent, UK
  • 2014 Winner of Charles J. Epstein Trainee Award for Excellence in Human Genetics Research, San Diego, USA
  • 2014 Candidate for the Young Investigator Awards of the ESHG 2014 Conference, Milan, Italy
  • 2012 Nominated for the Royan International award, Tehran, Iran
  • 2012 Travel grant for the Royan International Twin Congress, Tehran, Iran
  • 2011 Winner of the European Society of Human Genetics (ESHG) fellowship for 4th Course in Integration of cytogenetics, microarray and massive sequencing in biomedical and clinical research, Bologna, Italy


Haplotyping and copy number typing by polymorphic variant allele frequencies. (2015) ZL913096 - PCT/EP2014/068315 - WO/2015/028576
Methods for haplotyping single cells. (2011) ZL910050 -PCT/EP2011/060211 - WO/2011/157846

Selected publications

#,Zamani Esteki, M., Viltrop T., Tšuiko, O., Tiirats, A. Koel, M., Nõukas M., Žilina, O., Heearu, K., Marjonen, H., Kahila, H., Meekels, J., Söderström-Anttila, V., Suikkari, A., Mägi, R., Kõks, S., Kaminen-Ahola, N., Kurg, A., #Voet, T., #Vermeesch JR and #Salumets, A. In vitro fertilization (IVF) has no effect on the prevalence of mosaic copy number alterations in fetal and placental lineages. (2019). Nature Medicine doi: 10.1038/s41591-019-0620-2. See also the simplified story (YouTube).
#Co-senior/corresponding author

At the forefront of medical research: our cover authors share their hopes for their fields. (2019). Nature Medicine doi: 10.1038/s41591-019-0692-z

Che, H., Villela, D., Dimitriadou, E., Melotte, C., Brison, N., Neofytou, M., Van Den Bogaert, K., Tsuiko, O., Devriendt, K., Legius, E., Zamani Esteki, M., Voet, T., Vermeesch, JR. Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA. (2020). Genetics in Medicine doi: 10.1038/s41436-019-0748-y.

*Masset H., *Zamani Esteki, M., Dimitriadou E., Dreesen J., Debrock S., Derhaag J., Derks K., Destouni A., Drusedau M., Meekels J., Melotte C., Peeraer K., Tsuiko O., Van Uum C., Allemeersch J., Devogelaere B., François K., Happe S., Lorson D., Richards RL., Theuns J., Brunner H., De Die-Smulders C., Voet T., Paulussen A., Coonen E., Vermeesch J. (2019). Multi-centre evaluation of a comprehensive preimplantation genetic test through haplotyping-by-sequencing. Human reproduction doi: 10.1093/humrep/dez106. *Co-first author

*Tsuiko O., *Catteeuw M., *Zamani Esteki M., Destouni A., Pascottini OB., Besenfelder U., Havlicek V., Smits K., Kurg A., Salumets A., D'Hooghe T., Voet T., Soom AV., Vermeesch JR. Vanneste E. (joint first author), Voet T. (2017). Genome stability of bovine in vivo-conceived cleavage-stage embryos is higher compared to in vitro-produced embryos. Human reproduction, 32 (11), 2348-2357. doi: 10.1093/humrep/dex28 *joint first author *Destouni, A., *Zamani Esteki, M., Catteeuw, M., Tsuiko, O., Dimitriadou, E., Kurg, A., Salumets, A., Van Soom A., Voet, T., Vermeesch, J.  (2016). Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage stage chimaerism and mixolpoidy. Genome research, 26 (5), 10.1101/gr.200527.115, 567-78. * These authors are joint first-authors and contributed equally to this work.

Zamani Esteki, M., Dimitriadou, E., Mateiu, L., Melotte, C., Jackmaert, S., Van der Aa, N., Kumar, P., Das, R., Theunis, K., Cheng, J., Brems, H., Legius E., Moreau, Y., Debrock, S., D'Hooghe, T., Verdyk, P., De Rycke, Sermon, K., Vermeesch, J., Voet, T. Concurrent haplotyping and copy-number profiling of single cells. (2015). The American Journal of Human Genetics, 96 (6), S0002-9297(15)00148-2, 894-912.

Van der Aa, N., Zamani Esteki, M., Vermeesch, J., Voet, T. (2013). Preimplantation genetic diagnosis guided by single-cell genomics. Genome Medicine, 5 (8), 71.

Robberecht, C., Voet, T., Zamani Esteki, M., Nowakowska, B., Vermeesch, J. (2013). Non-allelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations. Genome research, 23 (3), 411-418.

Van der Aa, N., Cheng, J., Mateiu, L., Zamani Esteki, M., Kumar, P., Dimitriadou, E., Vanneste, E., Moreau, Y., Vermeesch, J.,Voet, T. (2013). Genome-wide copy number profiling of single cells in S-phase reveals DNA-replication domains. Nucleic acids research, 41 (6), e66.

*Kumar, P., *Zamani Esteki, M., *Van der Aa, N., Voet, T. (2013). How to analyse a single blastomere? Application of whole-genome technologies: micro-arrays and next generation sequencing. In: Sermon K., Viville S. (Eds.), Textbook of Human Reproductive Genetics, Cambridge University Press. *Joint first author

For full list of publications see: ORCiD and ResearchGate


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