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Predicting disease-causing variant combinations.
Papadimitriou S, Gazzo A, Versbraegen N, Nachtegael C, Aerts J, Moreau Y, Van Dooren S, Nowé A, Smits G, Lenaerts T. Papadimitriou S, et al. Proc Natl Acad Sci U S A. 2019 Jun 11;116(24):11878-11887. doi: 10.1073/pnas.1815601116. Epub 2019 May 24. Proc Natl Acad Sci U S A. 2019. PMID: 31127050 Free PMC article.
Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.
Duerinckx S, Jacquemin V, Drunat S, Vial Y, Passemard S, Perazzolo C, Massart A, Soblet J, Racapé J, Desmyter L, Badoer C, Papadimitriou S, Le Borgne YA, Lefort A, Libert F, De Maertelaer V, Rooman M, Costagliola S, Verloes A, Lenaerts T, Pirson I, Abramowicz M. Duerinckx S, et al. Among authors: papadimitriou s. Hum Mutat. 2020 Feb;41(2):512-524. doi: 10.1002/humu.23948. Epub 2019 Nov 27. Hum Mutat. 2020. PMID: 31696992 Free PMC article.
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. Versbraegen N, et al. Among authors: papadimitriou s. BMC Bioinformatics. 2023 May 1;24(1):179. doi: 10.1186/s12859-023-05291-3. BMC Bioinformatics. 2023. PMID: 37127601 Free PMC article.
Prioritization of oligogenic variant combinations in whole exomes.
Gravel B, Renaux A, Papadimitriou S, Smits G, Nowé A, Lenaerts T. Gravel B, et al. Among authors: papadimitriou s. Bioinformatics. 2024 Mar 29;40(4):btae184. doi: 10.1093/bioinformatics/btae184. Bioinformatics. 2024. PMID: 38603604 Free PMC article.
Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K, Juchnewitsch AG, 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, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M. Lillepea K, et al. Among authors: papadimitriou s. Am J Hum Genet. 2024 May 2;111(5):877-895. doi: 10.1016/j.ajhg.2024.03.013. Epub 2024 Apr 12. Am J Hum Genet. 2024. PMID: 38614076
Undiagnosed RASopathies in infertile men.
Juchnewitsch AG, 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 RI, Jarvi KA, Schlegel PN, Tennisberg S, Korrovits P, Vigh-Conrad K, O'Bryan MK, Aston KI, Lenaerts T, Conrad DF, Kasak L, Punab M, Laan M. Juchnewitsch AG, et al. Among authors: papadimitriou s. Front Endocrinol (Lausanne). 2024 Apr 9;15:1312357. doi: 10.3389/fendo.2024.1312357. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38654924 Free PMC article.
90 results