Masoud Zamani Esteki

Dr. M. Zamani Esteki

Associate professor


Single-cell omics, reproductive genetics, genomic medicine, artificial intelligence


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


My research lies at the intersection of classical genetics, molecular and developmental genetics, clinical genetics, bioinformatics, and artificial intelligence. During the course of my (post)doctoral research, I have 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, I have 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. See my hope and vision for the field (on the website of Nature Medicine).

I lead the Cellular Genomic Medicine group (CGM). Within CGM, we have several lines of active research centered around progressive innovation in reproductive genetics. CGM 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. We constantly explore new avenues towards translating our research into the clinic.


  • 2021- Associate professor, Maastricht UMC+ & Maastricht University
  • 2021 Assistant professor (tenured), Maastricht UMC+ & Maastricht University
  • 2018 Assistant professor (tenure track), Maastricht UMC+ & 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

  • 2023 KNAW early career award
  • 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

*Schobers, G., *Koeck, R., Pellaers, D., Stevens, S., Macville, M., Paulussen, ADC., Coonen, E., van Wijngaard, A., de Die-Smulders, CEM., De Wert, G., Brunner, HG., and Zamani Esteki, M. (2021). Liquid biopsy: State of Reproductive Medicine and Beyond. Human Reproduction,  doi: 10.1093/humrep/deab206.
*Co-first authors

Sallevelt SCEH, Stegmann APA, de Koning, B., Velter  C., Steyls  A., van Esch  M., Lakeman P., Yntema H., Zamani Esteki, M., de Die-Smulders CEM., Gilissen  C., van den Wijngaard A., Brunner HG., Paulussen ADC.  Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice. (2021). Genetics in Medicine doi: 10.1038/s41436-021-01116-x.

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.

Ding, J., Dimitriadou, E., Tsuiko, O., Destouni, A., Melotte, C., Van Den Bogaert, K., Debrock, S., Jatsenko, T., Zamani Esteki, M., Voet, T., Peeraer, K., Denayer, E., Vermeesch, J.R. (2020). Identity-by-state-based haplotyping expands the application of comprehensive preimplantation genetic testing. Human Reproduction, 35 (3), 718-726. doi: 10.1093/humrep/dez285.

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