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Journal Abstract Search

232 related items for PubMed ID: 31307376

  • 1. PhenPath: a tool for characterizing biological functions underlying different phenotypes.
    Babbi G, Martelli PL, Casadio R.
    BMC Genomics; 2019 Jul 16; 20(Suppl 8):548. PubMed ID: 31307376
    [Abstract] [Full Text] [Related]

  • 2. eDGAR: a database of Disease-Gene Associations with annotated Relationships among genes.
    Babbi G, Martelli PL, Profiti G, Bovo S, Savojardo C, Casadio R.
    BMC Genomics; 2017 Aug 11; 18(Suppl 5):554. PubMed ID: 28812536
    [Abstract] [Full Text] [Related]

  • 3. NET-GE: a novel NETwork-based Gene Enrichment for detecting biological processes associated to Mendelian diseases.
    Di Lena P, Martelli PL, Fariselli P, Casadio R.
    BMC Genomics; 2015 Aug 11; 16 Suppl 8(Suppl 8):S6. PubMed ID: 26110971
    [Abstract] [Full Text] [Related]

  • 4. HPOSim: an R package for phenotypic similarity measure and enrichment analysis based on the human phenotype ontology.
    Deng Y, Gao L, Wang B, Guo X.
    PLoS One; 2015 Aug 11; 10(2):e0115692. PubMed ID: 25664462
    [Abstract] [Full Text] [Related]

  • 5. HPO2Vec+: Leveraging heterogeneous knowledge resources to enrich node embeddings for the Human Phenotype Ontology.
    Shen F, Peng S, Fan Y, Wen A, Liu S, Wang Y, Wang L, Liu H.
    J Biomed Inform; 2019 Aug 11; 96():103246. PubMed ID: 31255713
    [Abstract] [Full Text] [Related]

  • 6. NET-GE: a web-server for NETwork-based human gene enrichment.
    Bovo S, Di Lena P, Martelli PL, Fariselli P, Casadio R.
    Bioinformatics; 2016 Nov 15; 32(22):3489-3491. PubMed ID: 27485441
    [Abstract] [Full Text] [Related]

  • 7. An online tool for measuring and visualizing phenotype similarities using HPO.
    Peng J, Xue H, Hui W, Lu J, Chen B, Jiang Q, Shang X, Wang Y.
    BMC Genomics; 2018 Aug 13; 19(Suppl 6):571. PubMed ID: 30367579
    [Abstract] [Full Text] [Related]

  • 8. Investigations on factors influencing HPO-based semantic similarity calculation.
    Peng J, Li Q, Shang X.
    J Biomed Semantics; 2017 Sep 20; 8(Suppl 1):34. PubMed ID: 29297376
    [Abstract] [Full Text] [Related]

  • 9. An ontological foundation for ocular phenotypes and rare eye diseases.
    Sergouniotis PI, Maxime E, Leroux D, Olry A, Thompson R, Rath A, Robinson PN, Dollfus H, ERN-EYE Ontology Study Group.
    Orphanet J Rare Dis; 2019 Jan 09; 14(1):8. PubMed ID: 30626441
    [Abstract] [Full Text] [Related]

  • 10. Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.
    Köhler S, Øien NC, Buske OJ, Groza T, Jacobsen JOB, McNamara C, Vasilevsky N, Carmody LC, Gourdine JP, Gargano M, McMurry JA, Danis D, Mungall CJ, Smedley D, Haendel M, Robinson PN.
    Curr Protoc Hum Genet; 2019 Sep 09; 103(1):e92. PubMed ID: 31479590
    [Abstract] [Full Text] [Related]

  • 11. 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.
    Nucleic Acids Res; 2014 Jan 09; 42(Database issue):D966-74. PubMed ID: 24217912
    [Abstract] [Full Text] [Related]

  • 12. Annotating Diseases Using Human Phenotype Ontology Improves Prediction of Disease-Associated Long Non-coding RNAs.
    Le DH, Dao LTM.
    J Mol Biol; 2018 Jul 20; 430(15):2219-2230. PubMed ID: 29758261
    [Abstract] [Full Text] [Related]

  • 13. Seten: a tool for systematic identification and comparison of processes, phenotypes, and diseases associated with RNA-binding proteins from condition-specific CLIP-seq profiles.
    Budak G, Srivastava R, Janga SC.
    RNA; 2017 Jun 20; 23(6):836-846. PubMed ID: 28336542
    [Abstract] [Full Text] [Related]

  • 14. How can functional annotations be derived from profiles of phenotypic annotations?
    Serrano-Solano B, Díaz Ramos A, Hériché JK, Ranea JAG.
    BMC Bioinformatics; 2017 Feb 10; 18(1):96. PubMed ID: 28183267
    [Abstract] [Full Text] [Related]

  • 15. OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization.
    Antanaviciute A, Watson CM, Harrison SM, Lascelles C, Crinnion L, Markham AF, Bonthron DT, Carr IM.
    Bioinformatics; 2015 Dec 01; 31(23):3822-9. PubMed ID: 26272982
    [Abstract] [Full Text] [Related]

  • 16. Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology.
    Masino AJ, Dechene ET, Dulik MC, Wilkens A, Spinner NB, Krantz ID, Pennington JW, Robinson PN, White PS.
    BMC Bioinformatics; 2014 Jul 21; 15(1):248. PubMed ID: 25047600
    [Abstract] [Full Text] [Related]

  • 17. Transfer learning across ontologies for phenome-genome association prediction.
    Petegrosso R, Park S, Hwang TH, Kuang R.
    Bioinformatics; 2017 Feb 15; 33(4):529-536. PubMed ID: 27797759
    [Abstract] [Full Text] [Related]

  • 18. OAHG: an integrated resource for annotating human genes with multi-level ontologies.
    Cheng L, Sun J, Xu W, Dong L, Hu Y, Zhou M.
    Sci Rep; 2016 Oct 05; 6():34820. PubMed ID: 27703231
    [Abstract] [Full Text] [Related]

  • 19. Gene- and Disease-Based Expansion of the Knowledge on Inborn Errors of Immunity.
    Salnikova LE, Chernyshova EV, Anastasevich LA, Larin SS.
    Front Immunol; 2019 Oct 05; 10():2475. PubMed ID: 31695696
    [Abstract] [Full Text] [Related]

  • 20. The human phenotype ontology.
    Robinson PN, Mundlos S.
    Clin Genet; 2010 Jun 05; 77(6):525-34. PubMed ID: 20412080
    [Abstract] [Full Text] [Related]

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