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Page 1
GA4GH Phenopackets: A Practical Introduction.
Ladewig MS, Jacobsen JOB, Wagner AH, Danis D, El Kassaby B, Gargano M, Groza T, Baudis M, Steinhaus R, Seelow D, Bechrakis NE, Mungall CJ, Schofield PN, Elemento O, Smith L, McMurry JA, Munoz-Torres M, Haendel MA, Robinson PN. Ladewig MS, et al. Among authors: haendel ma. Adv Genet (Hoboken). 2022 Aug 25;4(1):2200016. doi: 10.1002/ggn2.202200016. eCollection 2023 Mar. Adv Genet (Hoboken). 2022. PMID: 36910590 Free PMC article.
Integrating phenotype ontologies across multiple species.
Mungall CJ, Gkoutos GV, Smith CL, Haendel MA, Lewis SE, Ashburner M. Mungall CJ, et al. Among authors: haendel ma. Genome Biol. 2010 Jan 8;11(1):R2. doi: 10.1186/gb-2010-11-1-r2. Genome Biol. 2010. PMID: 20064205 Free PMC article.
Uberon, an integrative multi-species anatomy ontology.
Mungall CJ, Torniai C, Gkoutos GV, Lewis SE, Haendel MA. Mungall CJ, et al. Among authors: haendel ma. Genome Biol. 2012 Jan 31;13(1):R5. doi: 10.1186/gb-2012-13-1-r5. Genome Biol. 2012. PMID: 22293552 Free PMC article.
What is an anatomy ontology?
Druzinsky R, Mungall C, Haendel M, Lapp H, Mabee P. Druzinsky R, et al. Anat Rec (Hoboken). 2013 Dec;296(12):1797-9. doi: 10.1002/ar.22805. Epub 2013 Oct 11. Anat Rec (Hoboken). 2013. PMID: 24127438 Free article. No abstract available.
Improved exome prioritization of disease genes through cross-species phenotype comparison.
Robinson PN, Köhler S, Oellrich A; Sanger Mouse Genetics Project; Wang K, Mungall CJ, Lewis SE, Washington N, Bauer S, Seelow D, Krawitz P, Gilissen C, Haendel M, Smedley D. Robinson PN, et al. Genome Res. 2014 Feb;24(2):340-8. doi: 10.1101/gr.160325.113. Epub 2013 Oct 25. Genome Res. 2014. PMID: 24162188 Free PMC article.
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Köhler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, Black GC, Brown DL, Brudno M, Campbell J, FitzPatrick DR, Eppig JT, Jackson AP, Freson K, Girdea M, Helbig I, Hurst JA, Jähn J, Jackson LG, Kelly AM, Ledbetter DH, Mansour S, Martin CL, Moss C, Mumford A, Ouwehand WH, Park SM, Riggs ER, Scott RH, Sisodiya S, Van Vooren S, Wapner RJ, Wilkie AO, Wright CF, Vulto-van Silfhout AT, de Leeuw N, de Vries BB, Washingthon NL, Smith CL, Westerfield M, Schofield P, Ruef BJ, Gkoutos GV, Haendel M, Smedley D, Lewis SE, Robinson PN. Köhler S, et al. Nucleic Acids Res. 2014 Jan;42(Database issue):D966-74. doi: 10.1093/nar/gkt1026. Epub 2013 Nov 11. Nucleic Acids Res. 2014. PMID: 24217912 Free PMC article.
217 results