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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: toro s. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. Nucleic Acids Res. 2024. PMID: 37953324 Free PMC article.
The Zebrafish Model Organism Database: new support for human disease models, mutation details, gene expression phenotypes and searching.
Howe DG, Bradford YM, Eagle A, Fashena D, Frazer K, Kalita P, Mani P, Martin R, Moxon ST, Paddock H, Pich C, Ramachandran S, Ruzicka L, Schaper K, Shao X, Singer A, Toro S, Van Slyke C, Westerfield M. Howe DG, et al. Among authors: toro s. Nucleic Acids Res. 2017 Jan 4;45(D1):D758-D768. doi: 10.1093/nar/gkw1116. Epub 2016 Nov 28. Nucleic Acids Res. 2017. PMID: 27899582 Free PMC article.
The Zebrafish Information Network: new support for non-coding genes, richer Gene Ontology annotations and the Alliance of Genome Resources.
Ruzicka L, Howe DG, Ramachandran S, Toro S, Van Slyke CE, Bradford YM, Eagle A, Fashena D, Frazer K, Kalita P, Mani P, Martin R, Moxon ST, Paddock H, Pich C, Schaper K, Shao X, Singer A, Westerfield M. Ruzicka L, et al. Among authors: toro s. Nucleic Acids Res. 2019 Jan 8;47(D1):D867-D873. doi: 10.1093/nar/gky1090. Nucleic Acids Res. 2019. PMID: 30407545 Free PMC article.
The Gene Ontology resource: enriching a GOld mine.
Gene Ontology Consortium. Gene Ontology Consortium. Nucleic Acids Res. 2021 Jan 8;49(D1):D325-D334. doi: 10.1093/nar/gkaa1113. Nucleic Acids Res. 2021. PMID: 33290552 Free PMC article.
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
Dhombres F, Morgan P, Chaudhari BP, Filges I, Sparks TN, Lapunzina P, Roscioli T, Agarwal U, Aggarwal S, Beneteau C, Cacheiro P, Carmody LC, Collardeau-Frachon S, Dempsey EA, Dufke A, Duyzend MH, El Ghosh M, Giordano JL, Glad R, Grinfelde I, Iliescu DG, Ladewig MS, Munoz-Torres MC, Pollazzon M, Radio FC, Rodo C, Silva RG, Smedley D, Sundaramurthi JC, Toro S, Valenzuela I, Vasilevsky NA, Wapner RJ, Zemet R, Haendel MA, Robinson PN. Dhombres F, et al. Among authors: toro s. Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):231-242. doi: 10.1002/ajmg.c.31989. Epub 2022 Jul 24. Am J Med Genet C Semin Med Genet. 2022. PMID: 35872606 Free PMC article.
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: toro s. Database (Oxford). 2022 Oct 8;2022:baac087. doi: 10.1093/database/baac087. Database (Oxford). 2022. PMID: 36208225 Free PMC article.
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: toro s. Nucleic Acids Res. 2024 Jan 5;52(D1):D938-D949. doi: 10.1093/nar/gkad1082. Nucleic Acids Res. 2024. PMID: 38000386 Free PMC article.
The Zebrafish Information Network: major gene page and home page updates.
Howe DG, Ramachandran S, Bradford YM, Fashena D, Toro S, Eagle A, Frazer K, Kalita P, Mani P, Martin R, Moxon ST, Paddock H, Pich C, Ruzicka L, Schaper K, Shao X, Singer A, Van Slyke CE, Westerfield M. Howe DG, et al. Among authors: toro s. Nucleic Acids Res. 2021 Jan 8;49(D1):D1058-D1064. doi: 10.1093/nar/gkaa1010. Nucleic Acids Res. 2021. PMID: 33170210 Free PMC article.
Annotation of gene product function from high-throughput studies using the Gene Ontology.
Attrill H, Gaudet P, Huntley RP, Lovering RC, Engel SR, Poux S, Van Auken KM, Georghiou G, Chibucos MC, Berardini TZ, Wood V, Drabkin H, Fey P, Garmiri P, Harris MA, Sawford T, Reiser L, Tauber R, Toro S; Gene Ontology Consortium. Attrill H, et al. Among authors: toro s. Database (Oxford). 2019 Jan 1;2019:baz007. doi: 10.1093/database/baz007. Database (Oxford). 2019. PMID: 30715275 Free PMC article.
86 results