Publications

Research publications

Pagnaer, T., Siermann, M., Borry, P., & Tšuiko, O. (2021). Polygenic risk scoring of human embryos: a qualitative study of media coverage. BMC Medical Ethics, 22(1). https://doi.org/10.1186/s12910-021-00694-4

Tyrmi, J., Arffman, R. K., Pujol-Gualdo, N., Kurra, V., Morin‐Papunen, L., Sliz, E., Piltonen, T., Laisk, T., Kettunen, J., & Laivuori, H. (2021). Leveraging Northern European population history: novel low-frequency variants for polycystic ovary syndrome. Human Reproduction, 37(2), 352–365. https://doi.org/10.1093/humrep/deab250

Zhu, J., Pujol-Gualdo, N., Wittemans, L. B. L., Lindgren, C. M., Laisk, T., Hirschhorn, J. N., & Chan, Y. (2021). Evidence from men for ovary-independent effects of genetic risk factors for polycystic ovary syndrome. The Journal of Clinical Endocrinology and Metabolism, 107(4), e1577–e1587. https://doi.org/10.1210/clinem/dgab838

Siermann, M., Claesen, Z., Pasquier, L., Raivio, T., Tšuiko, O., Vermeesch, J. R., & Borry, P. (2022). A systematic review of the views of healthcare professionals on the scope of preimplantation genetic testing. Journal of Community Genetics, 13(1), 1–11. https://doi.org/10.1007/s12687-021-00573-w

Siermann, M., Tšuiko, O., Vermeesch, J. R., Raivio, T., & Borry, P. (2022). A review of normative documents on preimplantation genetic testing: Recommendations for PGT-P. Genetics in Medicine, 24(6), 1165–117 https://doi.org/10.1016/j.gim.2022.03.001

Pujol-Gualdo, N., Läll, K., Lepamets, M., Rossi, H., Arffman, R. K., Piltonen, T., Mägi, R., & Laisk, T. (2022). Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse. Nature Communications, 13(1). https://doi.org/10.1038/s41467-022-31188-5

Che, H., Stanley, K., Jatsenko, T., Thienpont, B., & Vermeesch, J. (2022). Expanded knowledge of cell-free DNA biology: potential to broaden the clinical utility. Extracellular Vesicles and Circulating Nucleic Acids, 3, 199–217. https://doi.org/10.20517/evcna.2022.21

Yellapragada, V., Eskici, N., Wang, Y., Madhusudan, S., Vaaralahti, K., Tuuri, T., & Raivio, T. (2022). FGF8–FGFR1 signaling regulates human GnRH neuron differentiation in a time- and dose-dependent manner. Disease Models & Mechanisms, 15(8). https://doi.org/10.1242/dmm.049436

Wang, Y., Madhusudan, S., Cotellessa, L., Kvist, J., Eskici, N., Yellapragada, V., Pulli, K., Lund, C., Vaaralahti, K., Tuuri, T., Giacobini, P., & Raivio, T. (2022). Deciphering the transcriptional landscape of human pluripotent stem Cell-Derived GNRH neurons: The role of WNT signaling in patterning the neural fate. Stem Cells, 40(12), 1107–1121. https://doi.org/10.1093/stmcls/sxac069

Tang, Y., Ponandai-Srinivasan, S., Frisendahl, C., Andersson, J., Pavone, D., Stewart, E. A., Lalitkumar, P. G. L., Korsching, E., Bogavarappu, N. R., & Gemzell‐Danielsson, K. (2023). Bromocriptine inhibits proliferation in the endometrium from women with adenomyosis. Frontiers in Endocrinology, 14. https://doi.org/10.3389/fendo.2023.1026168

Siermann, M., Valcke, O., Vermeesch, J. R., Raivio, T., Tšuiko, O., & Borry, P. (2023). Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores. European Journal of Human Genetics. https://doi.org/1038/s41431-023-01333-9

Koel, M., Võsa, U., Jõeloo, M., Läll, K., Gualdo, N. P., Laivuori, H., Lemmelä, S., Daly, M., Palta, P., Mägi, R., & Laisk, T. (2023). GWAS meta-analyses clarify the genetics of cervical phenotypes and inform risk stratification for cervical cancer. Human Molecular Genetics Online/Human Molecular Genetics, 32(12), 2103–2116. https://doi.org/10.1093/hmg/ddad043

Boskovic, N., Yazgeldi, G., Ezer, S., Tervaniemi, M. H., Inzunza, J., Deligiannis, S. P., Yaşar, B., Skoog, T., Krjutškov, K., Katayama, S., & Kere, J. (2023). Optimized single-cell RNA sequencing protocol to study early genome activation in mammalian preimplantation development. STAR Protocols, 4(3), 102357. https://doi.org/10.1016/j.xpro.2023.102357

Van Riel, M., Zhao, Y., Jatsenko, T., Lannoo, L., Timmerman, D., & Vermeesch, J. R. (2023). Ultrasensitive Microhaplotype-Based detection of minor alleles in cervical samples of pregnant women identifies sperm rather than fetal DNA. Clinical Chemistry, 69(9), 1089–1091. https://doi.org/10.1093/clinchem/hvad107

Eskici, N., Madhusudan, S., Vaaralahti, K., Yellapragada, V., Gómez-Sánchez, C. E., Kärkinen, J., Almusa, H., Brandstack, N., Miettinen, P. J., Wang, Y., & Raivio, T. (2023). Congenital hypogonadotropic hypogonadism in a patient with a de novo POGZ mutation. European Journal of Endocrinology, 189(2), 271–280. https://doi.org/10.1093/ejendo/lvad111

Danti, L., Lundin, K., Sepponen, K., Yohannes, D. A., Kere, J., Tuuri, T., & Tapanainen, J. S. (2023). CRISPR/Cas9-mediated activation of NR5A1 steers female human embryonic stem cell-derived bipotential gonadal-like cells towards a steroidogenic cell fate. Journal of Ovarian Research, 16(1). https://doi.org/10.1186/s13048-023-01264-5

Pujol-Gualdo, N., Mägi, R., & Laisk, T. (2022). Genome-wide association study meta-analysis supports association between MUC1 and ectopic pregnancy. medRxiv (Cold Spring Harbor Laboratory). https://doi.org/10.1101/2022.10.31.22281750 – preprint accepted for publication in Human Reproduction

Tang, Y., Frisendahl, C., Lalitkumar, P. G., & Danielsson, K. G. (2023). An update on Experimental therapeutic strategies for thin endometrium. Endocrines, 4(4), 672–684. https://doi.org/10.3390/endocrines4040048

Pujol-Gualdo, N., Karjalainen, M. K., Võsa, U., Arffman, R. K., Mägi, R., Ronkainen, J., Laisk, T., & Piltonen, T. (2023). Circulating anti-Müllerian hormone levels in pre-menopausal women: novel genetic insights from a GWAS meta-analysis. medRxiv (Cold Spring Harbor Laboratory). https://doi.org/10.1101/2023.09.07.23295182 – preprint

Tang, Y., Boggavarapu, N. R., Aronsson, A., Danielsson, K. G., & Lalitkumar, P. G. (2024). Global Transcriptomic Analysis of Placentas from Women with Gestational SARS-CoV-2 Infection during the Third Trimester of Pregnancy. International Journal of Molecular Sciences, 25(3), 1608. https://doi.org/10.3390/ijms25031608

Deligiannis, S. P., Kask, K., Modhukur, V., Boskovic, N., Ivask, M., Jaakma, Ü., Damdimopoulou, P., Tuuri, T., Velthut-Meikas, A., & Salumets, A. (2024). Investigating the impact of vitrification on bovine ovarian tissue morphology, follicle survival, and transcriptomic signature. Journal of Assisted Reproduction and Genetics. https://doi.org/10.1007/s10815-024-03038-4

Lee, S., Arffman, R. K., Komsi, E. K., Lindgren, O., Kemppainen, J., Kask, K., Saare, M., Salumets, A., & Piltonen, T. (2024). Dynamic changes in AI-based analysis of endometrial cellular composition: Analysis of PCOS and RIF endometrium. Journal of Pathology Informatics, 100364. https://doi.org/10.1016/j.jpi.2024.100364

Siermann, M., Valcke, O., Vermeesch, J. R., Raivio, T., Tšuiko, O., & Borry, P. (2024). “Are we not going too far?“: Socio-ethical considerations of preimplantation genetic testing using polygenic risk scores according to healthcare professionals. Social Science & Medicine, 343, 116599. https://doi.org/10.1016/j.socscimed.2024.116599

De Coster, T., Zhao, Y., Tšuiko, O., Demyda-Peyrás, S., Van Soom, A., Vermeesch, J. R., & Smits, K. (2024). Genome-wide equine preimplantation genetic testing enabled by simultaneous haplotyping and copy number detection. Scientific Reports, 14(1). https://doi.org/10.1038/s41598-023-48103-7

Li, S., Wang, Y., Van Der Stoel, M. M., Zhou, X., Madhusudan, S., Kanerva, K., Nguyen, V. D., Eskici, N., Olkkonen, V. M., Zhou, Y., Raivio, T., & Ikonen, E. (2024). HiHo-AID2: boosting homozygous knock-in efficiency enables robust generation of human auxin-inducible degron cells. Genome Biology, 25(1). https://doi.org/10.1186/s13059-024-03187-w

Stanley, K. E., Jatsenko, T., Tuveri, S., Sudhakaran, D., Lannoo, L., Van Calsteren, K., De Borre, M., Parijs, I., Van Coillie, L., Van Den Bogaert, K., Toledo, R. A., Lenaerts, L., Tejpar, S., Punie, K., Rengifo, L. Y., Vandenberghe, P., Thienpont, B., & Vermeesch, J. R. (2024). Cell type signatures in cell-free DNA fragmentation profiles reveal disease biology. Nature Communications, 15(1). https://doi.org/10.1038/s41467-024-46435-0

Siermann, M., Van Der Schoot, V., Bunnik, E. M., & Borry, P. (2024). Ready for polygenic risk scores? An analysis of regulation of preimplantation genetic testing in European countries. Human Reproduction. https://doi.org/10.1093/humrep/deae049

Lee S., Tejesvi M.V., Hurskainen E., Aasmets O., Plaza-Díaz J., Franks S., Morin-Papunen L., Tapanainen J.S., Ruuska T.S., Altmäe S., Org E., Salumets A., Arffman R.K., Piltonen T.T. (2024). Gut bacteriome and mood disorders in women with PCOS. Human reproduction. https://doi.org/10.1093/humrep/deae073

Lee, S., Arffman, R. K., Komsi, E. K., Lindgren, O., Kemppainen, J. A., Metsola, H., Rossi, H., Ahtikoski, A., Kask, K., Saare, M., Salumets, A., & Piltonen, T. T. (2024). AI-algorithm training and validation for identification of endometrial CD138+ cells in infertility-associated conditions; polycystic ovary syndrome (PCOS) and recurrent implantation failure (RIF). Journal of Pathology Informatics, 100380. https://doi.org/10.1016/j.jpi.2024.100380

Press releases

Tartu Ülikooli eestvedamisel parandatakse Euroopa viljatusravi kvaliteeti (Eng. Improving the quality of infertility care in Europe under the leadership of the University of Tartu), 10.12.2019, UT

Ethical challenges of new tools to screen embryos for disease risks, 21.10.2020, KUL

Reproduktiivgeneetika ja -genoomika talvekool jagab valdkonna uusimat teadmist (Eng. Reproductive Genetics and Genomics Winter School shares the latest knowledge in the field), 03.02.21, UT

Researchers have discovered new genetic risk factors in polycystic ovary syndrome, 17.11.2021, EurekAlert!

Teadlased leidsid polütsüstiliste munasarjade sündroomiga seotud uudse geneetilise riskifaktori (Eng. Researchers find novel genetic risk factor associated with polycystic ovary syndrome), 18.11.2021, UT

New genetic variants associated with pelvic organ prolapse have been found, 13.07.2022, EurekAlert!

Interview with PhD student Kate Stanley, 28.02.2023, KUL

Seminaril võetakse luubi alla reproduktiivmeditsiin (Eng. Seminar focuses on reproductive medicine), 22.09.2023, UT

Viljakus esitab ühiskonnale ja paaridele palju väljakutseid. Seminaril arutleti lähemalt reproduktiivmeditsiini teemade üle (Eng. Fertility poses many challenges for society and couples. The seminar took a closer look at reproductive medicine issues.), 31.10.2023, UT

Media

Researchers have discovered new genetic risk factors in polycystic ovary syndrome, 17.12.21, Research in Estonia

Kaks uut geneetilist riskifaktorit, mis on seotud polütsüstiliste munasarjade sündroomiga (Eng. Two new genetic risk factors associated with polycystic ovary syndrome), 18.11.2021, Anne & Stiil

TÜ teadlased leidsid levinud sündroomiga seotud uudse geneetilise riskifaktori (Eng. UT researchers identify novel genetic risk factor associated with pervasive syndrome), 18.11.2021, Postimees

Teadlased leidsid geeni, mis soodustab naiste tervist ohustavat sündroomi (Eng. Researchers find a gene that contributes to a health-threatening syndrome in women), 02.12.2021, Novaator

Kind zonder ziektes (Eng. Child without diseases), 04.03.2023, De Standaard

Podgoričanka radi na dva doktorata, prije povratka u Crnu Goru našla način da pomogne (Eng. The woman from Podgorica is working on two doctorates, before returning to Montenegro she found a way to help.), 26.03.2023, Vijesti

At the intersection of sex and gender: differences of sex development, 27.10.2023, The Science Basement

Doktorand embriologije i genetike Nina Bošković za “Vijesti”: Hemikalije i zagađenje umanjuju plodnost (Eng. PhD candidate in embryology and genetics Nina Bošković for “Vijesti”: Chemicals and pollution reduce fertility), 13.11.2023, Vijesti