Dr. Masoud Zamani Esteki

Associate professor
Head of the Laboratory of Cellular Genomic Medicine

Single-cell omics, Reproductive Genetics, Genomic Medicine, Artificial intelligence 

Laboratory of Cellular Genomic Medicine
Department of Clinical Genetics
Maastricht UMC+
6202 AZ Maastricht

E: masoud.zamaniesteki@mumc.nl
T: +31 43 38 75306 / secretory: +31 43 38 71272-3
Science & Innovation: www.zamanilab.org CGM to tackle reproductive odds
Science & Society: www.pre-health.org PREhealth to enhance reproductive literacy

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, he 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. See Masoud's hope and vision for the field here.

Masoud leads the Cellular Genomic Medicine (CGM) group. CGM has several lines of active research centered around progressive innovation in Reproductive Medicine, e.g. development and application of novel 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. CGM constantly explores new avenues towards translating their 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
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
Koeck, R., Busato, F., Tost, J., Consten, D., van Echten-Arends, J., Mastenbroek, S., Wurth, Y., Gielen, M., van Golde, R., Dumoulin, JCM., Brunner, HG., van Montfoort, APA., Zamani Esteki, M. Methylome-wide analysis of IVF neonates that underwent embryo culture in different media revealed no significant differences. npj Genomic Medicine. doi: 10.1038/s41525-022-00310-3. PMID: 35768464

Heesterbeek, CJ., Aukema, SM, Galjaard, RH., Boon, EMJ., Srebniak, MI., Bouman, K., Faas, BHW., Govaerts, LCP., Hoffer, MJV.,  den Hollander, NS., Lichtenbelt, KD., van Maarle, MC., van Prooyen Schuurman, L., van Rij, MC.,  Schuring-Blom, GH., Stevens, SJC., Tan-Sindhunata, G., Zamani Esteki, M., de Die-Smulders, CEM., Tjan-Heijnen, VCG., Henneman, L., Sistermans, EA., Macville, MVE., Dutch NIPT Consortium. (2022). Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study. Journal of Clinical Oncology. doi: 10.1200/JCO.21.02260. PMID: 35394817

Masset, H., Ding, J., Dimitriadou, E., Debrock, S., Tšuiko, O., Smits, K., Peeraer, K., Voet, T., Zamani Esteki, M., Vermeesch, JR. (2022). Single-cell genome-wide concurrent haplotyping and copy-number profiling through genotyping-by-sequencing. Nucleic Acids Research, doi: 10.1093/nar/gkac134. PMID: 35212381

*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

#,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 here
#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), art.nr. 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), art.nr. 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), art.nr. 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:

Maastricht IVF: IVF has no detrimental effect on the genome of fetal and placenta lineages