{"id":13,"date":"2024-04-04T05:40:17","date_gmt":"2024-04-04T02:40:17","guid":{"rendered":"https:\/\/sisu.ut.ee\/mater\/publication\/"},"modified":"2024-05-24T16:14:45","modified_gmt":"2024-05-24T13:14:45","slug":"publication","status":"publish","type":"page","link":"https:\/\/sisu.ut.ee\/mater\/publication\/","title":{"rendered":"Publications"},"content":{"rendered":"

Research publications<\/h2>\n

Pagnaer, T., Siermann, M.<\/strong>, Borry, P., & T\u0161uiko, 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<\/a><\/p>\n

Tyrmi, J., Arffman, R. K., Pujol-Gualdo, N.<\/strong>, Kurra, V., Morin\u2010Papunen, 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\u2013365. https:\/\/doi.org\/10.1093\/humrep\/deab250<\/a><\/p>\n

Zhu, J., Pujol-Gualdo, N.<\/strong>, 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\u2013e1587. https:\/\/doi.org\/10.1210\/clinem\/dgab838<\/a><\/p>\n

Siermann, M.<\/strong>, Claesen, Z., Pasquier, L., Raivio, T., T\u0161uiko, 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\u201311. https:\/\/doi.org\/10.1007\/s12687-021-00573-w<\/a><\/p>\n

Siermann, M.<\/strong>, T\u0161uiko, 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\u2013117 https:\/\/doi.org\/10.1016\/j.gim.2022.03.001<\/a><\/p>\n

Pujol-Gualdo, N.<\/strong>, L\u00e4ll, K., Lepamets, M., Rossi, H., Arffman, R. K., Piltonen, T., M\u00e4gi, 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<\/a><\/p>\n

Che, H., Stanley, K.<\/strong>, 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\u2013217. https:\/\/doi.org\/10.20517\/evcna.2022.21<\/a><\/p>\n

Yellapragada, V., Eskici, N., Wang, Y., Madhusudan, S.<\/strong>, Vaaralahti, K., Tuuri, T., & Raivio, T. (2022). FGF8\u2013FGFR1 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<\/a><\/p>\n

Wang, Y., Madhusudan, S.<\/strong>, 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\u20131121. https:\/\/doi.org\/10.1093\/stmcls\/sxac069<\/a><\/p>\n

Tang, Y.<\/strong>, Ponandai-Srinivasan, S., Frisendahl, C., Andersson, J., Pavone, D., Stewart, E. A., Lalitkumar, P. G. L., Korsching, E., Bogavarappu, N. R., & Gemzell\u2010Danielsson, K. (2023). Bromocriptine inhibits proliferation in the endometrium from women with adenomyosis. Frontiers in Endocrinology, 14. https:\/\/doi.org\/10.3389\/fendo.2023.1026168<\/a><\/p>\n

Siermann, M.<\/strong>, Valcke, O., Vermeesch, J. R., Raivio, T., T\u0161uiko, 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<\/a><\/p>\n

Koel, M., V\u00f5sa, U., J\u00f5eloo, M., L\u00e4ll, K., Gualdo, N. P.<\/strong>, Laivuori, H., Lemmel\u00e4, S., Daly, M., Palta, P., M\u00e4gi, 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\u20132116. https:\/\/doi.org\/10.1093\/hmg\/ddad043<\/a><\/p>\n

Boskovic, N.<\/strong>, Yazgeldi, G., Ezer, S., Tervaniemi, M. H., Inzunza, J., Deligiannis, S. P.<\/strong>, Ya\u015far, B.<\/strong>, Skoog, T., Krjut\u0161kov, 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<\/a><\/p>\n

Van Riel, M., Zhao, Y.<\/strong>, 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\u20131091. https:\/\/doi.org\/10.1093\/clinchem\/hvad107<\/a><\/p>\n

Eskici, N., Madhusudan, S.<\/strong>, Vaaralahti, K., Yellapragada, V., G\u00f3mez-S\u00e1nchez, C. E., K\u00e4rkinen, 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\u2013280. https:\/\/doi.org\/10.1093\/ejendo\/lvad111<\/a><\/p>\n

Danti, L.<\/strong>, 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<\/a><\/p>\n

Pujol-Gualdo, N.<\/strong>, M\u00e4gi, 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<\/a> \u2013 preprint accepted for publication in Human Reproduction<\/i><\/p>\n

Tang, Y.<\/strong>, Frisendahl, C., Lalitkumar, P. G., & Danielsson, K. G. (2023). An update on Experimental therapeutic strategies for thin endometrium. Endocrines, 4(4), 672\u2013684. https:\/\/doi.org\/10.3390\/endocrines4040048<\/a><\/p>\n

Pujol-Gualdo, N.<\/strong>, Karjalainen, M. K., V\u00f5sa, U., Arffman, R. K., M\u00e4gi, R., Ronkainen, J., Laisk, T., & Piltonen, T. (2023). Circulating anti-M\u00fcllerian 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<\/a> \u2013 preprint<\/i><\/p>\n

Tang, Y.<\/strong>, 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<\/a><\/p>\n

Deligiannis, S. P.<\/strong>, Kask, K., Modhukur, V., Boskovic, N.<\/strong>, Ivask, M., Jaakma, \u00dc., 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<\/a><\/p>\n

Lee, S.<\/strong>, 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<\/a><\/p>\n

Siermann, M.<\/strong>, Valcke, O., Vermeesch, J. R., Raivio, T., T\u0161uiko, O., & Borry, P. (2024). \u201cAre we not going too far?\u201c: 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<\/a><\/p>\n

De Coster, T., Zhao, Y.<\/strong>, T\u0161uiko, O., Demyda-Peyr\u00e1s, 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<\/a><\/p>\n

Li, S., Wang, Y., Van Der Stoel, M. M., Zhou, X., Madhusudan, S.<\/strong>, 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<\/a><\/p>\n

Stanley, K. E.<\/strong>, 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<\/a><\/p>\n

Siermann, M.<\/strong>, 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<\/a><\/p>\n

Lee S.<\/strong>, Tejesvi M.V., Hurskainen E., Aasmets O., Plaza-D\u00edaz J., Franks S., Morin-Papunen L., Tapanainen J.S., Ruuska T.S., Altm\u00e4e 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<\/a><\/p>\n

Lee, S.<\/strong>, 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<\/a><\/p>\n

Press releases<\/h2>\n

Tartu \u00dclikooli eestvedamisel parandatakse Euroopa viljatusravi kvaliteeti<\/a> (Eng. Improving the quality of infertility care in Europe under the leadership of the University of Tartu), 10.12.2019, UT<\/p>\n

Ethical challenges of new tools to screen embryos for disease risks<\/a>, 21.10.2020, KUL<\/p>\n

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

Researchers have discovered new genetic risk factors in polycystic ovary syndrome<\/a>, 17.11.2021, EurekAlert!<\/p>\n

Teadlased leidsid pol\u00fcts\u00fcstiliste munasarjade s\u00fcndroomiga seotud uudse geneetilise riskifaktori<\/a> (Eng. Researchers find novel genetic risk factor associated with polycystic ovary syndrome), 18.11.2021, UT<\/p>\n

New genetic variants associated with pelvic organ prolapse have been found<\/a>, 13.07.2022, EurekAlert!<\/p>\n

Interview with PhD student Kate Stanley<\/a>, 28.02.2023, KUL<\/p>\n

Seminaril v\u00f5etakse luubi alla reproduktiivmeditsiin<\/a> (Eng. Seminar focuses on reproductive medicine), 22.09.2023, UT<\/p>\n

Viljakus esitab \u00fchiskonnale ja paaridele palju v\u00e4ljakutseid. Seminaril arutleti l\u00e4hemalt reproduktiivmeditsiini teemade \u00fcle<\/a> (Eng.\u00a0Fertility poses many challenges for society and couples. The seminar took a closer look at reproductive medicine issues.), 31.10.2023, UT<\/p>\n

Media<\/h2>\n

Researchers have discovered new genetic risk factors in polycystic ovary syndrome<\/a>, 17.12.21, Research in Estonia<\/p>\n

Kaks uut geneetilist riskifaktorit, mis on seotud pol\u00fcts\u00fcstiliste munasarjade s\u00fcndroomiga<\/a> (Eng. Two new genetic risk factors associated with polycystic ovary syndrome), 18.11.2021, Anne & Stiil<\/p>\n

T\u00dc teadlased leidsid levinud s\u00fcndroomiga seotud uudse geneetilise riskifaktori<\/a> (Eng. UT researchers identify novel genetic risk factor associated with pervasive syndrome), 18.11.2021, Postimees<\/p>\n

Teadlased leidsid pol\u00fcts\u00fcstiliste munasarjade s\u00fcndroomiga seotud uudse geneetilise riskifaktori<\/a> (Eng. Researchers find novel genetic risk factor associated with polycystic ovary syndrome), 18.12.21, Tervise Geenius<\/p>\n

Teadlased leidsid pol\u00fcts\u00fcstiliste munasarjade s\u00fcndroomiga seotud uudse geneetilise riskifaktori<\/a> (Eng. Researchers find novel genetic risk factor associated with polycystic ovary syndrome), 18.12.21, Med24<\/p>\n

Teadlased leidsid geeni, mis soodustab naiste tervist ohustavat s\u00fcndroomi<\/a> (Eng. Researchers find a gene that contributes to a health-threatening syndrome in women), 02.12.2021, Novaator<\/p>\n

Kind zonder ziektes<\/a> (Eng. Child without diseases), 04.03.2023, De Standaard<\/p>\n

Podgori\u010danka radi na dva doktorata, prije povratka u Crnu Goru na\u0161la na\u010din da pomogne<\/a> (Eng. The woman from Podgorica is working on two doctorates, before returning to Montenegro she found a way to help.), 26.03.2023, Vijesti<\/p>\n

At the intersection of sex and gender: differences of sex development<\/a>, 27.10.2023, The Science Basement<\/p>\n

Doktorand embriologije i genetike Nina Bo\u0161kovi\u0107 za \u201cVijesti\u201d: Hemikalije i zaga\u0111enje umanjuju plodnost<\/a> (Eng.\u00a0PhD candidate in embryology and genetics Nina Bo\u0161kovi\u0107 for \u201cVijesti\u201d: Chemicals and pollution reduce fertility), 13.11.2023, Vijesti<\/p>\n","protected":false},"excerpt":{"rendered":"

Research publications Pagnaer, T., Siermann, M., Borry, P., & T\u0161uiko, 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\u2010Papunen, L., …<\/p>\n","protected":false},"author":209,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-13","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/sisu.ut.ee\/mater\/wp-json\/wp\/v2\/pages\/13","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sisu.ut.ee\/mater\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/sisu.ut.ee\/mater\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/sisu.ut.ee\/mater\/wp-json\/wp\/v2\/users\/209"}],"replies":[{"embeddable":true,"href":"https:\/\/sisu.ut.ee\/mater\/wp-json\/wp\/v2\/comments?post=13"}],"version-history":[{"count":9,"href":"https:\/\/sisu.ut.ee\/mater\/wp-json\/wp\/v2\/pages\/13\/revisions"}],"predecessor-version":[{"id":2656,"href":"https:\/\/sisu.ut.ee\/mater\/wp-json\/wp\/v2\/pages\/13\/revisions\/2656"}],"wp:attachment":[{"href":"https:\/\/sisu.ut.ee\/mater\/wp-json\/wp\/v2\/media?parent=13"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}