Research output per year
Research output per year
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Dive into the research topics where Sofia Papadimitriou is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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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 p., btae184.Research output: Contribution to journal › Article › peer-review
Open AccessFile1 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 others, , 2 May 2024, In: American Journal of Human Genetics. 111, 5, p. 877-895 19 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Citations (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 others, , 2024, In: Frontiers in Endocrinology. 15, 11 p., 1312357.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (Scopus) -
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 p., 179.Research output: Contribution to journal › Article › peer-review
Open AccessFile8 Citations (Scopus)27 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 p., 100165.Research output: Contribution to journal › Short survey › peer-review
Open AccessFile9 Citations (Scopus)13 Downloads (Pure)
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24th Annual Symposium BeSHG
Kathelijn Keymolen (Chair), Alexander Gheldof (Participant), Jacques De Grève (Participant), Helena Deryckere (Participant), Boyan Dimitrov (Participant), Ingeborg Liebaers (Participant), Pascale De Becker (Participant), Christiane Winter (Participant), Rani Cooreman (Participant), Nymfa Vandermaelen (Participant), Ann Van Den Bogaert (Participant), Yanissa Van Buggenhout (Participant), Kelly De Rooms (Participant), Chloë Tina M Vonckx (Participant), Inez Bogaerts (Participant), Kim De Hauwere (Participant), Martine De Rycke (Participant), Elke De Ridder (Participant), Julie Nekkebroeck (Participant), Lauren Van Droogenbroeck (Participant), Sara Seneca (Participant), Bart Dequeker (Participant), Kim Van Berkel (Participant), Callaerts Annick (Participant), Sarah Peeters (Participant), Elia Fernandez Gallardo (Participant), Elke De Schutter (Participant), Toon Janssen (Participant), Catharina Olsen (Participant), Frederik Jan Hes (Participant), Sophie Bessems (Participant), Dirk De Smedt (Participant), Sofia Papadimitriou (Participant), Frone Anoek Meersschaert (Participant), Pieter Verdyck (Participant), Philippe Giron (Participant), Nathalie Eduarda M Vanden Eynde (Participant), Annelore Van Der Kelen (Participant), Laura Polsler (Participant), Esther Scheirlynck (Participant), Stefanie Rosa Van de Voorde (Participant), Thomy de Ravel (Participant) & Sophie Uyttebroeck (Participant)
12 Apr 2024Activity: Participating in or organising an event › Participation in conference
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Transitie naar de nieuwe ISO 15189:2022 voor staf en management
Philippe Giron (Participant), Bart Dequeker (Participant), Bruno Hinckel (Participant), Elia Fernandez Gallardo (Participant), Jelle Vlaeminck (Participant), Sara Seneca (Participant), Sofia Papadimitriou (Participant) & Sophie Bessems (Participant)
6 Mar 2024Activity: Participating in or organising an event › Participation in workshop, seminar
Thesis
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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
Author: Lenaerts, T., Papadimitriou, S. & Nowe, A., 2020Supervisor: Lenaerts, T. (Promotor) & Nowe, A. (Promotor)
Student thesis: Doctoral Thesis