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COSMIC: the Catalogue Of Somatic Mutations In Cancer.
Nucleic Acids Res. 2019 Jan 8;47(D1):D941-D947. doi: 10.1093/nar/gky1015.
Nucleic Acids Res. 2019.
PMID: 30371878
Free PMC article.
The Human Phenotype Ontology in 2024: phenotypes around the world.
Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI Jr, Ogishima …
See abstract for full author list ➔
Gargano MA, et al. Among authors: stefancsik r.
Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005.
Nucleic Acids Res. 2024.
PMID: 37953324
Free PMC article.
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Ontology Development Kit: a toolkit for building, maintaining and standardizing biomedical ontologies.
Matentzoglu N, Goutte-Gattat D, Tan SZK, Balhoff JP, Carbon S, Caron AR, Duncan WD, Flack JE, Haendel M, Harris NL, Hogan WR, Hoyt CT, Jackson RC, Kim H, Kir H, Larralde M, McMurry JA, Overton JA, Peters B, Pilgrim C, Stefancsik R, Robb SM, Toro S, Vasilevsky NA, Walls R, Mungall CJ, Osumi-Sutherland D.
Matentzoglu N, et al. Among authors: stefancsik r.
Database (Oxford). 2022 Oct 8;2022:baac087. doi: 10.1093/database/baac087.
Database (Oxford). 2022.
PMID: 36208225
Free PMC article.
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The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource.
Sollis E, Mosaku A, Abid A, Buniello A, Cerezo M, Gil L, Groza T, Güneş O, Hall P, Hayhurst J, Ibrahim A, Ji Y, John S, Lewis E, MacArthur JAL, McMahon A, Osumi-Sutherland D, Panoutsopoulou K, Pendlington Z, Ramachandran S, Stefancsik R, Stewart J, Whetzel P, Wilson R, Hindorff L, Cunningham F, Lambert SA, Inouye M, Parkinson H, Harris LW.
Sollis E, et al. Among authors: stefancsik r.
Nucleic Acids Res. 2023 Jan 6;51(D1):D977-D985. doi: 10.1093/nar/gkac1010.
Nucleic Acids Res. 2023.
PMID: 36350656
Free PMC article.
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The Ontology of Biological Attributes (OBA)-computational traits for the life sciences.
Stefancsik R, Balhoff JP, Balk MA, Ball RL, Bello SM, Caron AR, Chesler EJ, de Souza V, Gehrke S, Haendel M, Harris LW, Harris NL, Ibrahim A, Koehler S, Matentzoglu N, McMurry JA, Mungall CJ, Munoz-Torres MC, Putman T, Robinson P, Smedley D, Sollis E, Thessen AE, Vasilevsky N, Walton DO, Osumi-Sutherland D.
Stefancsik R, et al.
Mamm Genome. 2023 Sep;34(3):364-378. doi: 10.1007/s00335-023-09992-1. Epub 2023 Apr 19.
Mamm Genome. 2023.
PMID: 37076585
Free PMC article.
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The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences.
Stefancsik R, Balhoff JP, Balk MA, Ball R, Bello SM, Caron AR, Chessler E, de Souza V, Gehrke S, Haendel M, Harris LW, Harris NL, Ibrahim A, Koehler S, Matentzoglu N, McMurry JA, Mungall CJ, Munoz-Torres MC, Putman T, Robinson P, Smedley D, Sollis E, Thessen AE, Vasilevsky N, Walton DO, Osumi-Sutherland D.
Stefancsik R, et al.
bioRxiv [Preprint]. 2023 Jan 27:2023.01.26.525742. doi: 10.1101/2023.01.26.525742.
bioRxiv. 2023.
PMID: 36747660
Free PMC article.
Updated.
Preprint.
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R-Smad competition controls activin receptor output in Drosophila.
Peterson AJ, Jensen PA, Shimell M, Stefancsik R, Wijayatonge R, Herder R, Raftery LA, O'Connor MB.
Peterson AJ, et al. Among authors: stefancsik r.
PLoS One. 2012;7(5):e36548. doi: 10.1371/journal.pone.0036548. Epub 2012 May 1.
PLoS One. 2012.
PMID: 22563507
Free PMC article.
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The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species.
Putman TE, Schaper K, Matentzoglu N, Rubinetti VP, Alquaddoomi FS, Cox C, Caufield JH, Elsarboukh G, Gehrke S, Hegde H, Reese JT, Braun I, Bruskiewich RM, Cappelletti L, Carbon S, Caron AR, Chan LE, Chute CG, Cortes KG, De Souza V, Fontana T, Harris NL, Hartley EL, Hurwitz E, Jacobsen JOB, Krishnamurthy M, Laraway BJ, McLaughlin JA, McMurry JA, Moxon SAT, Mullen KR, O'Neil ST, Shefchek KA, Stefancsik R, Toro S, Vasilevsky NA, Walls RL, Whetzel PL, Osumi-Sutherland D, Smedley D, Robinson PN, Mungall CJ, Haendel MA, Munoz-Torres MC.
Putman TE, et al. Among authors: stefancsik r.
Nucleic Acids Res. 2024 Jan 5;52(D1):D938-D949. doi: 10.1093/nar/gkad1082.
Nucleic Acids Res. 2024.
PMID: 38000386
Free PMC article.
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