Selected publications
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*Janssen, A.E.J., *Koeck, R.M., *Essers, R., Cao, P., van Dijk, W., Drüsedau, M., Meekels, J., Yaldiz, B., van de Vorst, M., de Koning, B., Hellebrekers, D.M.E.I., Stevens, S.J.C., Sun, S.M., Heijligers M., de Munnik S.A., van Uum, C.M.J., Achten, J., Hamers, L., Naghdi, M., Vissers, L.E.L.M., van Golde, R.J.T., de Wert, G., Dreesen, J.C.F.M., de Die-Smulders, Christine, Coonen, E., Brunner, H.G., van den Wijngaard, A., Paulussen, A.D.C., and Zamani Esteki, M. Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing. (2024) Nature Communications, doi:10.1038/s41467-024-51508-1 PMID: 39223156
*Co-first author
In the NEWS
Maastricht UMC+ press release (in Dutch & English)
Karolinska Institutet press release (in Swedish & English)
Link to NRC news item: https://lnkd.in/epebucUK
Link to De Limburger news item: https://lnkd.in/ega4BCsy
Link to L1 TV news item: https://lnkd.in/ega4BCsy
Link to MEDISCH CONTACT coverage
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*Loid, M., *Obukhova, D., Kask, K., Apostolov, A., Meltsov, A., Tserpelis, D., van den Wijngaard, A., Altmäe, S., Yahubyan, G., Baev, V., Saare, M., Peters, M., Minajeva, A., Adler, P., Acharya, G., Krjutškov, K., Vilella, F., Simon, C., #Zamani Esteki, M., #Salumets A. Ageing affects ciliated cell development in human endometrial epithelium. (2024) Human Reproduction Open, doi: 10.1093/hropen/hoae048 PMID: 39185250 *Co-first author #Co-last author
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Haghshenas' S., Karimi, K., Stevenson, R.E., Levy, M.A., Relator, R., Kerkhof, J., Rzasa, J., McConkey, H., Lauzon-Young, C., Balci, T.B., White-Brown, A.M., Carter, M.T., Richer, J., Armour, C.M., Sawyer, S.L., Bhola, P.T., Tedder, M.L., Skinner, C.D., van Rooij, I.A.L.M., van de Putte, R., de Blaauw, I., Koeck, R.M., Hoischen, A., Brunner, H., Zamani Esteki, M., Pelet, A., Lyonnet, S., Amiel, J., Boycott, K.M., Sadikovic, B.. Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations. American Journal of Human Genetics. doi: 10.1016/j.ajhg.2024.07.005. PMID: 39089258
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Aleksejeva, E., Zamani Esteki M., Salumets, A. Mitochondrial Venus is more likely to have a lower birthweight. (2024) Trends in Endocrinology and Metabolism. doi: 10.1016/j.tem.2024.04.011 PMID: 38664152
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Cao, P., Derhaag, J., Coonen, E., Brunner, H., Acharya, G., Salumets, A., Zamani Esteki, M. Generative Artificial Intelligence to Produce High-Fidelity Blastocyst-stage Embryo Images. (2024) Human Reproduction. doi: 10.1093/humrep/deae064 PMID: 38600621
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van der Made CI, Kersten S, Chorin O, Engelhardt KR, Ramakrishnan G, Griffin H, Schim van der Loeff I, Venselaar H, Rothschild AR, Segev M, Schuurs-Hoeijmakers JHM, Mantere T, Essers R, Zamani Esteki M, Avital AL, Loo PS, Simons A, Pfundt R, Warris A, Seyger MM, van de Veerdonk FL, Netea MG, Slatter MA, Flood T, Gennery AR, Simon AJ, Lev A, Frizinsky S, Barel O, van der Burg M, Somech R, Hambleton S, Henriet SSV, Hoischen A. Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome. (2024) American Journal of Human Genetics doi:10.1016/j.ajhg.2024.02.013. PMID: 38503300
Bui BN, Kukushkina V, Meltsov A, Olsen C, van Hoogenhuijze N, Altmäe S, Mol F, Teklenburg G, de Bruin JP, Besselink D, Stevens Brentjens L, Obukhova D, Zamani Esteki M, van Golde R, Romano A, Laisk T, Steba G, Mackens S, Salumets A, Broekmans F. The endometrial transcriptome of infertile women with and without implantation failure. (2024) Acta Obstet Gynecol Scand. doi:10.1111/aogs.14822. PMID: 38520066
Verdonschot JAJ, Hellebrekers DMEI, van Empel VPM, Heijligers M, de Munnik S, Coonen E, Dreesen JCMF, van den Wijngaard A, Brunner HG, Zamani Esteki M, Heymans SRB, de Die-Smulders CEM, Paulussen ADC. Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases. (2024) Circ Genom Precis Med. doi:10.1161/CIRCGEN.123.004416. PMID:38516780​​
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Zamani Esteki, M. The effect of embryonic genome imbalances on pregnancy. (2023). Nature Medicine. doi:10.1038/s41591-023-02687-9. PMID: 38012316.
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*Essers, R., *Lebedev, I., *Kurg, A., Fonova, EA., Stevens, S.J.C., Koeck, RM., von Rango, U., Brandts, L., Panagiotis Deligiannis, S., Nikitina, TV., Sazhenova, EA., Tolmacheva, EN., Kashevarova, AA., Fedotov, DA., Demeneva, VV., Zhigalina, DI., Drozdov, GV., Al-Nasiry, S., Macville, M.V. E., van den Wijngaard, A., Dreesen, J., Paulussen, A., Hoischen, A., Brunner, HG., Salumets S., Zamani Esteki, M. The nature and prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss. (2023). Nature Medicine. doi: 10.1038/s41591-023-02645-5. PMID: 37996709.
​*Contributed equally
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In the NEWS
Maastricht UMC+ press release in Ducth
University of Maastricht coverage in English
New Scientists coverage (Dutch version, Amsterdam)
New Scientists coverage (English version, London)
Link to NRC news item
Link to de telegraaf news item
Link to L1 TV news item
Link to DOQ coverage
Link to RTL Humberto TV coverage
Link to MEDISCH CONTACT coverage
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Pathare, ADS., Loid, M., Saare M., Brusell, Gidlöf S., Zamani Esteki M., Acharya, G., Peters, M., Salumets, A. Endometrial receptivity in women of advanced age – an underrated factor in infertility. (2023). Human Reproduction Update. doi: 10.1093/humupd/dmad019. PMID: 37468438.
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Stevens Brentjens, LBPM., Obukhova, D., Delvoux, B., den Hartog, JE., Bui, BN., Mol, F., de Bruin, JP., Besselink, D., Teklenburg, G., Morgan, F., Baker, M., Broekmans, FJM., van Golde, RJT., Zamani Esteki, M., Romano, A. Local production of 17β-oestradiol in the endometrium during the implantation window: a pilot study. (2023) Reprod Fertil. doi: 10.1530/RAF-23-0065. PMID: 37962510
Vernimmen, V., Paulussen, ADC., Dreesen, JCFM., van Golde, RJ., Zamani Esteki, M., Coonen, E., van Buul-van Zwet, ML., Homminga, I., Derijck, AAHA., Brandts, L., Stumpel, CTRM., de Die-Smulders, CEM. Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience. (2023). European Journal of Human Genetics. doi: 10.1038/s41431-023-01404-x. PMID: 37337089.
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*Stevens Brentjens, LBPM., *Obukhova, D., den Hartog, JE., Delvoux, B., Koskivuori, J., Auriola, S., Häkkinen, MR., Bui BN., van Hoogenhuijze, NE., Mackens, S., Mol, F., de Bruin, JP., Besselink, D., Teklenburg, G., Kukushkina, V., Salumets, A., Broekmans, FJM., van Golde, RJT., #Zamani Esteki, M., #Romano A. An integrative analysis of endometrial steroid metabolism and transcriptome in relation to endometrial receptivity in in vitro fertilization patients. (2023). Fertility and Sterility Science. doi: 10.1016/j.xfss.2023.04.003. PMID: 37142054
*Co-first author #Co-last author
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Van Dijk, W., Derks, K., Drüsedau, M., Meekels, J., Koeck, R., Essers, R., Dreesen, J., Coonen, E., de Die-Smulders, CEM., van Wijngaard, A., Paulussen, ADC., Zamani Esteki, M. Embryo Tracking System for High-throughput Sequencing-based Preimplantation Genetic Testing. (2022). Human Reproduction. doi: 10.1093/humrep/deac208. PMID: 36149256.
Koeck, R., Busato, F., Tost, J., Consten, D., Zandstra, H., Remy, S., Langie, S. , Gielen, M., van Golde, R., Dumoulin, JCM., Brunner, HG., #Zamani Esteki, M., #van Montfoort, APA. At age 9 the methylome of assisted reproductive technology children that underwent embryo culture in different media is not significantly different on a genome-wide scale. (2022). Human Reproduction. doi: 10.1093/humrep/deac213. PMID: 36206092 #Co-senior/corresponding author
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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. (2022). npj Genomic Medicine. doi: 10.1038/s41525-022-00310-3. PMID: 35768464. #Co-senior/corresponding author
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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., TsÌŒuiko, 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. PMID: 34562078
*Co-first authors
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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, 23(6):1125-1136. doi: 10.1038/s41436-021-01116-x. PMID: 33742171
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, 22(5):962-973. doi: 10.1038/s41436-019-0748-y. PMID: 32024963
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. PMID: 32198505
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 does not increase the incidence of de novo copy number alterations in fetal and placental lineages. (2019). Nature Medicine, 25(11):1699-1705. doi: 10.1038/s41591-019-0620-2. PMID: 31686035
*Joint first author, #Co-senior/corresponding author
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Zamani Esteki, M.#*, Ardeshirdavani, A*, Alcaida, D.*, Masset, H.*, Ding, J.*, Sifrim, A., Kumar, P., Dimitriadou, E., Aerts, J. , Voet, T.#, Moreau, Y.#, Vermeesch, J#. HiVA: an integrative wet- and dry-lab platform for haplotype and copy number
analysis of single-cell genomes. *Co-first author, #Co-senior/corresponding author. (preprint: https://doi.org/10.1101/564914).
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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):894-912. doi: 10.1016/j.ajhg.2015.04.011. PMID: 25983246
*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):567-78. doi: 10.1101/gr.200527.115. PMID: 27197242
*These authors are joint first-authors and contributed equally to this work.
*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 PMID: 29040498
*joint first author
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*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. PMID: 31348829
*Co-first author
Destouni A, Dimitriadou E, Masset H, Debrock S, Melotte C, Van Den Bogaert K, Zamani Esteki M, Ding J, Voet T, Denayer E, de Ravel T, Legius E, Meuleman C, Peeraer K, Vermeesch JR., (2018). Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M. Human Reproduction,33 (12), 2302-2311. doi: 10.1093/humrep/dey325. PMID: 30383227
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Dimitriadou, E., Melotte, C., Debrock, S., Zamani Esteki, M., Dierickx, K., Voet, T., Devriendt, K., de Ravel, T., Legius, E., Peraer, K., Meuleman, C., Vermeessch, J.R., (2017). Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos. Human Reproduction, 32(3), art.nr. 10.1093/humrep/dex011, 687-697. PMID: 26374319
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Demeulemeester, J., Kumar,P., Møller, E., Nord, S., Wedge, DC., Peterson, A., Mathiesen, RR., Fjelldal, R., Zamani Esteki, M., Theunis K., Fernandez Gallardo, E., Grundstad, J., Borgen J., Baumbusch LO., Børresen-Dale, AL., White, KP., Kristensen, VN., Van Loo P., Voet, T., Naume, B. (2016) Tracing the origin of disseminated tumor cells in breast cancer using single-cell sequencing. Genome Biology. 17 (1), art.nr. 10.1186/s13059-016-1109-7, 250. PMID: 27931250
Finalet Ferreiro, J., Morscio J., Dierickx, D., Vandenberghe, P., Gheysens, O., Verhoef, G., Zamani Esteki, M., Tousseyn, T., Wlodarska, I. (2015). EBV-Positive and EBV-Negative Posttransplant Diffuse Large B-Cell Lymphomas have Distinct Genomic and Transcriptomic Features. (2016). American Journal of Transplantation, 16 (2), art.nr. 10.1111/ajt.13558, 414-25.
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Voet, T., Kumar, P., Van Loo, P., Cooke, S., Marshall, J., Lin, M., Zamani Esteki, M., Van der Aa, N., Mateiu, L., McBride, D., Bignell, G., McLaren, S., Teague, J., Butler, A., Raine, K., Stebbings, L., Quail, M., D'Hooghe, T., Moreau, Y., Futreal, P., Stratton, M., Vermeesch, J., Campbell, P. (2013). Single-cell paired-end genome sequencing reveals structural variation per cell cycle. Nucleic Acids Research, 41 (12), 6119-6138. doi: 10.1093/nar/gkt345. PMID: 23630320
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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. doi: 10.1093/nar/gks1352. PMID: 23295674
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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. doi: 10.1101/gr.145631.112. PMID: 23212949
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Patents
Zamani Esteki, M., Vermeesh, J.R., Voet, T. (2015) Haplotyping and copy number typing by polymorphic variant allele frequencies. ZL913096 - PCT/EP2014/068315 - WO/2015/028576
Vermeesh, J.R., Voet, T., Zamani Esteki, M. (2011) Methods for haplotyping single cells. ZL910050 -PCT/EP2011/060211 - WO/2011/157846
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Book chapters
Dimitriadou, E., Zamani Esteki, M., Vermeesch, J. (2015). Copy Number Variation Analysis by Array Analysis of Single Cells Following Whole Genome Amplification. Methods in Molecular Biology, 1347, art.nr. 10.1007/978-1-4939-2990-0_14, 197-219.
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*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
