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The Matchmaker Exchange: a platform for rare disease gene discovery.
Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL. Philippakis AA, et al. Among authors: mungall cj. Hum Mutat. 2015 Oct;36(10):915-21. doi: 10.1002/humu.22858. Hum Mutat. 2015. PMID: 26295439 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. 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. Genome Biol. 2012 Jan 31;13(1):R5. doi: 10.1186/gb-2012-13-1-r5. Genome Biol. 2012. PMID: 22293552 Free PMC article.
MouseFinder: Candidate disease genes from mouse phenotype data.
Chen CK, Mungall CJ, Gkoutos GV, Doelken SC, Köhler S, Ruef BJ, Smith C, Westerfield M, Robinson PN, Lewis SE, Schofield PN, Smedley D. Chen CK, et al. Among authors: mungall cj. Hum Mutat. 2012 May;33(5):858-66. doi: 10.1002/humu.22051. Epub 2012 Mar 16. Hum Mutat. 2012. PMID: 22331800 Free PMC article.
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish.
Doelken SC, Köhler S, Mungall CJ, Gkoutos GV, Ruef BJ, Smith C, Smedley D, Bauer S, Klopocki E, Schofield PN, Westerfield M, Robinson PN, Lewis SE. Doelken SC, et al. Among authors: mungall cj. Dis Model Mech. 2013 Mar;6(2):358-72. doi: 10.1242/dmm.010322. Epub 2012 Oct 25. Dis Model Mech. 2013. PMID: 23104991 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. Among authors: mungall cj. 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. Among authors: mungall cj. 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.
181 results