Vingerafdruk
- 1 Soortgelijke profielen
Samenwerkingen en hoofdonderzoeksgebieden uit de afgelopen vijf jaar
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Prioritization of oligogenic variant combinations in whole exomes
Gravel, B., Renaux, A., Papadimitriou, S., Smits, G., Nowé, A. & Lenaerts, T., 1 apr. 2024, In: Bioinformatics . 40, 4, 9 blz., btae184.Onderzoeksoutput: Article › peer review
Open AccessBestand6 Citaten (Scopus)34 Downloads (Pure) -
Toward clinical exomes in diagnostics and management of male infertility
Lillepea, K., Juchnewitsch, A. G., Kasak, L., Valkna, A., Dutta, A., Pomm, K., Poolamets, O., Nagirnaja, L., Tamp, E., Mahyari, E., Vihljajev, V., Tjagur, S., Papadimitriou, S., Riera-Escamilla, A., Versbraegen, N., Farnetani, G., Castillo-Madeen, H., Sütt, M., Kübarsepp, V. & Tennisberg, S. & 7 anderen, , 2 mei 2024, In: American Journal of Human Genetics. 111, 5, blz. 877-895 19 blz.Onderzoeksoutput: Article › peer review
Open Access41 Citaten (Scopus) -
Undiagnosed RASopathies in infertile men
Juchnewitsch, A.-G., Pomm, K., Dutta, A., Tamp, E., Valkna, A., Lillepea, K., Mahyari, E., Tjagur, S., Belova, G., Kübarsepp, V., Castillo-Madeen, H., Riera-Escamilla, A., Põlluaas, L., Nagirnaja, L., Poolamets, O., Vihljajev, V., Sütt, M., Versbraegen, N., Papadimitriou, S. & McLachlan, R. I. & 12 anderen, , 2024, In: Frontiers in Endocrinology. 15, 11 blz., 1312357.Onderzoeksoutput: Article › peer review
Open AccessBestand10 Citaten (Scopus)4 Downloads (Pure) -
Faster and more accurate pathogenic combination predictions with VarCoPP2.0
Versbraegen, N., Gravel, B., Nachtegael, C., Renaux, A., Verkinderen, E., Nowé, A., Lenaerts, T. & Papadimitriou, S., dec. 2023, In: BMC Bioinformatics. 24, 1, 19 blz., 179.Onderzoeksoutput: Article › peer review
Open AccessBestand14 Citaten (Scopus)53 Downloads (Pure) -
Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases.
Papadimitriou, S., Gravel, B., Nachtegael, C., De Baere, E., Loeys, B., Vikkula, M., Smits, G. & Lenaerts, T., 12 jan. 2023, In: Human Genetics and Genomics Advances. 4, 1, 11 blz., 100165.Onderzoeksoutput: Short survey › peer review
Open AccessBestand12 Citaten (Scopus)44 Downloads (Pure)
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Transitie naar de nieuwe ISO 15189:2022 voor staf en management
Giron, P. (Participant), Dequeker, B. (Participant), Hinckel, B. (Participant), Fernandez Gallardo, E. (Participant), Vlaeminck, J. (Participant), Seneca, S. (Participant), Papadimitriou, S. (Participant) & Bessems, S. (Participant)
6 mrt. 2024Activiteit: Participation in workshop, seminar
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24th Annual Symposium BeSHG
Keymolen, K. (Chair), Gheldof, A. (Participant), De Grève, J. (Participant), Deryckere, H. (Participant), Dimitrov, B. (Participant), Liebaers, I. (Participant), De Becker, P. (Participant), Winter, C. (Participant), Cooreman, R. (Participant), Vandermaelen, N. (Participant), Van Den Bogaert, A. (Participant), Van Buggenhout, Y. (Participant), De Rooms, K. (Participant), Vonckx, C. T. M. (Participant), Bogaerts, I. (Participant), De Hauwere, K. (Participant), De Rycke, M. (Participant), De Ridder, E. (Participant), Nekkebroeck, J. (Participant), Van Droogenbroeck, L. (Participant), Seneca, S. (Participant), Dequeker, B. (Participant), Van Berkel, K. (Participant), Annick, C. (Participant), Peeters, S. (Participant), Fernandez Gallardo, E. (Participant), De Schutter, E. (Participant), Janssen, T. (Participant), Olsen, C. (Participant), Hes, F. J. (Participant), Bessems, S. (Participant), De Smedt, D. (Participant), Papadimitriou, S. (Participant), Meersschaert, F. A. (Participant), Verdyck, P. (Participant), Giron, P. (Participant), Vanden Eynde, N. E. M. (Participant), Van Der Kelen, A. (Participant), Polsler, L. (Participant), Scheirlynck, E. (Participant), Van de Voorde, S. R. (Participant), de Ravel, T. (Participant) & Uyttebroeck, S. (Participant)
12 apr. 2024Activiteit: Participation in conference
Scriptie
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Towards multivariant pathogenicity predictions x: Towards multivariant pathogenicity predictions - Using machine learning to directly predict and explore disease-causing oligogenic variant combinations
Lenaerts, T. (Promotor), Papadimitriou, S. ((PhD) Student) & Nowe, A. (Promotor), Lenaerts, T. (Promotor) & Nowe, A. (Promotor), 2020Scriptie/Masterproef: Doctoral Thesis