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CORDIS

Innovative Training Network in Female Reproductive Care

Deliverables

Introduction to Unix-Command line tools for biologists working with large-scale data

Introduction to Unix Command line tools for biologists working with largescale data isfinished The ESRs will obtain the knowledge on how to operate within the Unix environment All ESRs will participate in workshop and complete the practical assignments

Basics of statistical analysis for biologists’

Basics of statistical analysis for biologists is completed for all ESRs The ESRs will know 1 How to analyse and visualise data in the statistical software package R 2 How to correctly interpret results and 3 How to create publicationquality tables and figures ESRs will participate in workshop and complete the practical assignments

Dissemination and Communication Plan

Communication and Dissemination Plan CCHT is responsible for compiling the plan to increase the visibility of MATER among key stakeholders and the society at large All partners will contribute in defining their respective actions resulting in a dedicated document which will be periodically reviewed

Female reproductive endocrinology and disorders

Basics of female reproductive endocrinology and most common infertilityassociated gynaecological disorders is accomplished to all ESRs

ESR recruitment

ESRs recruitment finished T63 M8

Report on training course: Complementary transferable skills training

The skills development programme will have three parts IIntellectual Property Rights IPR training II Research Ethics and Equality training III Communication training

GWA-studies for ovarian aging and related phenotypes

GWAstudies for ovarian aging and related phenotypes The GWAstudies for ovarian agingrelated phenotypes are finished by using two extensive biobanks in Estonia EGCUT and Finland NFBC66 for Task 17 M24

GWAS crash course

GWAS crash course is provided to all ESRs The course requires that ESRs participate in workshop and complete the practical assignments

ESRs Kick-off meeting at KUL

ESRs Kickoff meeting at KUL T63 M8

Project stationary and website

Development of project stationary logotemplates banners posters flyers brochures rollup and website

Publications

Ultrasensitive Microhaplotype-Based Detection of Minor Alleles in Cervical Samples of Pregnant Women Identifies Sperm Rather Than Fetal DNA

Author(s): Margot van Riel, Yan Zhao, Tatjana Jatsenko, Lore Lannoo, Dirk Timmerman, Joris R Vermeesch
Published in: Clinical Chemistry, 2023, ISSN 0009-9147
Publisher: American Association for Clinical Chemistry, Inc.
DOI: 10.1093/clinchem/hvad107

Polygenic risk scoring of human embryos: a qualitative study of media coverage

Author(s): Tiny Pagnaer, Maria Siermann, Pascal Borry, Olga Tšuiko
Published in: BMC Medical Ethics, Issue 22/1, 2021, ISSN 1472-6939
Publisher: BioMed Central
DOI: 10.1186/s12910-021-00694-4

Investigating the impact of vitrification on bovine ovarian tissue morphology, follicle survival, and transcriptomic signature

Author(s): Deligiannis, S. P., Kask, K., Modhukur, V., Boskovic, N., Ivask, M., Jaakma, Ü., Damdimopoulou, P., Tuuri, T., Velthut-Meikas, A., Salumets, A.
Published in: Journal of Assisted Reproduction and Genetics, 2024, ISSN 1058-0468
Publisher: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10815-024-03038-4

Congenital hypogonadotropic hypogonadism in a patient with a de novo POGZ mutation

Author(s): 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.
Published in: European Journal of Endocrinology, 2023, ISSN 0804-4643
Publisher: BioScientifica Ltd.
DOI: 10.1093/ejendo/lvad111

Cell type signatures in cell-free DNA fragmentation profiles reveal disease biology

Author(s): 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.
Published in: Nature Communications, 2024, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-024-46435-0

Dynamic changes in AI-based analysis of endometrial cellular composition: Analysis of PCOS and RIF endometrium. Journal of Pathology Informatics

Author(s): Lee, S., Arffman, R. K., Komsi, E. K., Lindgren, O., Kemppainen, J., Kask, K., Saare, M., Salumets, A., Piltonen, T.
Published in: Journal of Pathology Informatics, 2024, ISSN 2153-3539
Publisher: Elsevier Inc.
DOI: 10.1016/j.jpi.2024.100364

Leveraging Northern European population history: novel low-frequency variants for polycystic ovary syndrome

Author(s): Jaakko S Tyrmi, Riikka K Arffman, Natàlia Pujol-Gualdo, Venla Kurra, Laure Morin-Papunen, Eeva Sliz, Terhi T Piltonen, Triin Laisk, Johannes Kettunen, Hannele Laivuori
Published in: Human Reproduction, 2021, ISSN 0268-1161
Publisher: Oxford University Press
DOI: 10.1093/humrep/deab250

An update on Experimental therapeutic strategies for thin endometrium

Author(s): Tang, Y., Frisendahl, C., Lalitkumar, P. G., Danielsson, K. G.
Published in: Endocrines, 2023, ISSN 2673-396X
Publisher: MDPI
DOI: 10.3390/endocrines4040048

Optimized single-cell RNA sequencing protocol to study early genome activation in mammalian preimplantation development

Author(s): Nina Boskovic, Gamze Yazgeldi, Sini Ezer, Mari H. Tervaniemi, Jose Inzunza, Spyridon Panagiotis Deligiannis, Barış Yaşar, Tiina Skoog, Kaarel Krjutškov, Shintaro Katayama, Juha Kere
Published in: STAR Protocols, 2023, ISSN 2666-1667
Publisher: Elsevier Inc.
DOI: 10.1016/j.xpro.2023.102357

Bromocriptine inhibits proliferation in the endometrium from women with adenomyosis

Author(s): Yiqun Tang; Sakthivignesh Ponandai-srinivasan; Caroline Frisendahl; Johanna K. Andersson; Dora Pavone; Elizabeth A. Stewart; Parameswaran Grace Luther Lalitkumar; Eberhard Korsching; Nageswara Rao Bogavarappu; Kristina Gemzell-Danielsson
Published in: Frontiers in Endocrinology, 2023, ISSN 1664-2392
Publisher: Frontiers Media SA
DOI: 10.3389/fendo.2023.1026168

GWAS meta-analyses clarify the genetics of cervical phenotypes and inform risk stratification for cervical cancer

Author(s): Estonian Biobank Research Team; FinnGen; Koel, Mariann; Vosa, Urmo; Joeloo, Maarja; Läll, Kristi; Gualdo, Natalia P.; Laivuori, Hannele; Lemmelä, Susanna; Daly, Mark; Palta, Priit; Mägi, Reedik; Laisk, Triin
Published in: Human Molecular Genetics, 2023, ISSN 0964-6906
Publisher: Oxford University Press
DOI: 10.1093/hmg/ddad043

CRISPR/Cas9-mediated activation of NR5A1 steers female human embryonic stem cell-derived bipotential gonadal-like cells towards a steroidogenic cell fate

Author(s): Danti, L., Lundin, K., Sepponen, K., Yohannes, D. A., Kere, J., Tuuri, T., Tapanainen, J. S.
Published in: Journal of Ovarian Research, 2023, ISSN 1757-2215
Publisher: BioMed Central
DOI: 10.1186/s13048-023-01264-5

Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse.

Author(s): Pujol-Gualdo, N., Läll, K., Lepamets, M. et al.
Published in: Nature Communication, Issue 13, article no 3584, 2022, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-022-31188-5

Genome-wide association study meta-analysis supports association between MUC1 and ectopic pregnancy

Author(s): Pujol-Gualdo, N., Mägi, R., Laisk, T.
Published in: Human Reproduction, 2023, ISSN 0268-1161
Publisher: Oxford University Press
DOI: 10.1093/humrep/dead217

FGF8–FGFR1 signaling regulates human GnRH neuron differentiation in a time- and dose-dependent manner

Author(s): Venkatram Yellapragada, Nazli Eskici, Yafei Wang, Shrinidhi Madhusudan, Kirsi Vaaralahti, Timo Tuuri, Taneli Raivio
Published in: Disease Models & Mechanisms, 2022, ISSN 1754-8411
Publisher: The Company of Biologists
DOI: 10.1242/dmm.049436

Evidence From Men for Ovary-independent Effects of Genetic Risk Factors for Polycystic Ovary Syndrome

Author(s): Jia Zhu, Natàlia Pujol-Gualdo, Laura B L Wittemans, Cecilia M Lindgren, Triin Laisk, Joel N Hirschhorn, Yee-Ming Chan
Published in: The Journal of Clinical Endocrinology & Metabolism, 2021, ISSN 0021-972X
Publisher: The Endocrine Society
DOI: 10.1210/clinem/dgab838

A systematic review of the views of healthcare professionals on the scope of preimplantation genetic testing

Author(s): Maria Siermann; Zoë Claesen; Laurent Pasquier; Taneli Raivio; Olga Tšuiko; Joris Robert Vermeesch; Pascal Borry
Published in: J Community Genet, 2022, ISSN 1868-310X
Publisher: Springer Verlag
DOI: 10.1007/s12687-021-00573-w

Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores

Author(s): Maria Siermann; Ophelia Valcke; Joris Robert Vermeesch; Taneli Raivio; Olga Tšuiko; Pascal Borry
Published in: European Journal of Human Genetics, 2023, ISSN 1476-5438
Publisher: Springer Nature
DOI: 10.1038/s41431-023-01333-9

A review of normative documents on preimplantation genetic testing: Recommendations for PGT-P

Author(s): Maria Siermann, Olga Tšuiko, Joris Robert Vermeesch, Taneli Raivio, Pascal Borry
Published in: Genetics in Medicine, 2022, ISSN 1098-3600
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1016/j.gim.2022.03.001

Deciphering the Transcriptional Landscape of Human Pluripotent Stem Cell-Derived GnRH Neurons: The Role of Wnt Signaling in Patterning the Neural Fate

Author(s): Yafei Wang, Shrinidhi Madhusudan, Ludovica Cotellessa, Jouni Kvist, Nazli Eskici, Venkatram Yellapragada, Kristiina Pulli, Carina Lund, Kirsi Vaaralahti, Timo Tuuri, Paolo Giacobini, Taneli Raivio
Published in: Stem Cells, 2022, ISSN 1549-4918
Publisher: Oxford University Press
DOI: 10.1093/stmcls/sxac069

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