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Node-degree aware edge sampling mitigates inflated classification performance in biomedical random walk-based graph representation learning.
Cappelletti L, Rekerle L, Fontana T, Hansen P, Casiraghi E, Ravanmehr V, Mungall CJ, Yang JJ, Spranger L, Karlebach G, Caufield JH, Carmody L, Coleman B, Oprea TI, Reese J, Valentini G, Robinson PN. Cappelletti L, et al. Among authors: robinson pn. Bioinform Adv. 2024 Mar 4;4(1):vbae036. doi: 10.1093/bioadv/vbae036. eCollection 2024. Bioinform Adv. 2024. PMID: 38577542 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: robinson pn. 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: robinson pn. 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.
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.
Clinical interpretation of CNVs with cross-species phenotype data.
Köhler S, Schoeneberg U, Czeschik JC, Doelken SC, Hehir-Kwa JY, Ibn-Salem J, Mungall CJ, Smedley D, Haendel MA, Robinson PN. Köhler S, et al. Among authors: robinson pn. J Med Genet. 2014 Nov;51(11):766-772. doi: 10.1136/jmedgenet-2014-102633. Epub 2014 Oct 3. J Med Genet. 2014. PMID: 25280750 Free PMC article.
Disease insights through cross-species phenotype comparisons.
Haendel MA, Vasilevsky N, Brush M, Hochheiser HS, Jacobsen J, Oellrich A, Mungall CJ, Washington N, Köhler S, Lewis SE, Robinson PN, Smedley D. Haendel MA, et al. Among authors: robinson pn. Mamm Genome. 2015 Oct;26(9-10):548-55. doi: 10.1007/s00335-015-9577-8. Epub 2015 Jun 20. Mamm Genome. 2015. PMID: 26092691 Free PMC article. Review.
Capturing phenotypes for precision medicine.
Robinson PN, Mungall CJ, Haendel M. Robinson PN, et al. Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000372. doi: 10.1101/mcs.a000372. Cold Spring Harb Mol Case Stud. 2015. PMID: 27148566 Free PMC article.
Navigating the Phenotype Frontier: The Monarch Initiative.
McMurry JA, Köhler S, Washington NL, Balhoff JP, Borromeo C, Brush M, Carbon S, Conlin T, Dunn N, Engelstad M, Foster E, Gourdine JP, Jacobsen JO, Keith D, Laraway B, Xuan JN, Shefchek K, Vasilevsky NA, Yuan Z, Lewis SE, Hochheiser H, Groza T, Smedley D, Robinson PN, Mungall CJ, Haendel MA. McMurry JA, et al. Among authors: robinson pn. Genetics. 2016 Aug;203(4):1491-5. doi: 10.1534/genetics.116.188870. Genetics. 2016. PMID: 27516611 Free PMC article.
390 results