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Bone, William P, Nicole L Washington, Orion J Buske, David R Adams, Joie Davis, David Draper, Elise D Flynn, et al. 2015. “Computational Evaluation of Exome Sequence Data Using Human and Model Organism Phenotypes Improves Diagnostic Efficiency.” Genetics in Medicine (Nov). doi:10.1038/gim.2015.137. http://dx.doi.org/10.1038/gim.2015.137.

Chen, Chao-Kung, Mungall, C. J., Georgios V Gkoutos, Sandra C Doelken, Sebastian Köhler, Barbara J Ruef, Cynthia Smith, et al. 2012. “MouseFinder: Candidate Disease Genes from Mouse Phenotype Data.” Human Mutation 33 (5) (May): 858–66. doi:10.1002/humu.22051. http://www.ncbi.nlm.nih.gov/pubmed/22331800.

Doelken, Sandra C, Sebastian Köhler, Mungall, C. J., Georgios V Gkoutos, Barbara J Ruef, Cynthia Smith, Damian Smedley, et al. 2013. “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.” Disease Models & Mechanisms 6 (2): 358–372.

Groza, Tudor, Sebastian Köhler, Dawid Moldenhauer, Nicole Vasilevsky, Gareth Baynam, Tomasz Zemojtel, Lynn Marie Schriml, et al. 2015. “The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.” The American Journal of Human Genetics 97 (1): 111–124. doi:10.1016/j.ajhg.2015.05.020. http://linkinghub.elsevier.com/retrieve/pii/S0002929715002347.

Kibbe, Warren A, Cesar Arze, Victor Felix, Elvira Mitraka, Evan Bolton, Gang Fu, Mungall, C.J., et al. 2014. “Disease Ontology 2015 Update: an Expanded and Updated Database of Human Diseases for Linking Biomedical Knowledge Through Disease Data.” Nucleic Acids Research (October): gku1011. doi:10.1093/nar/gku1011. http://nar.oxfordjournals.org/content/early/2014/10/27/nar.gku1011.full.

Kohler, Sebastian, Sebastian Bauer, Mungall, C. J., Gabriele Carletti, Cynthia L Smith, Paul Schofield, George V Gkoutos, and Peter N Robinson. 2011. “Improving Ontologies by Automatic Reasoning and Evaluation of Logical Definitions.” BMC Bioinformatics 12 (1): 418. doi:10.1186/1471-2105-12-418. http://www.biomedcentral.com/1471-2105/12/418.

Kohler, Sebastian, Sandra C Doelken, Mungall, C. J., Sebastian Bauer, Helen V. Firth, Isabelle Bailleul-Forestier, Graeme C. M. Black, et al. 2014. “The Human Phenotype Ontology Project: linking Molecular Biology and Disease Through Phenotype Data.” Nucleic Acids Res. 42 (D1): D966–D974. doi:10.1093/nar/gkt1026. http://nar.oxfordjournals.org/content/early/2013/11/11/nar.gkt1026.full.

Köhler, Sebastian, Sandra C Doelken, Barbara J Ruef, Sebastian Bauer, Nicole Washington, Monte Westerfield, George Gkoutos, et al. 2013. “Construction and Accessibility of a Cross-Species Phenotype Ontology Along with Gene Annotations for Biomedical Research.” F1000Research 2 (30). doi:10.3410/f1000research.2-30.v1. http://f1000research.com/articles/2-30/v1.

Mungall, C.J., Nicole L Washington, Jeremy Nguyen-Xuan, Christopher Condit, Damian Smedley, Sebastian Köhler, Tudor Groza, et al. 2015. “Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery.” Human Mutation 36 (10) (August): 979–84. doi:10.1002/humu.22857. http://www.ncbi.nlm.nih.gov/pubmed/26269093.

Robinson, P., S. Kohler, A. Oellrich, K. Wang, Mungall, C., S. E. Lewis, N. Washington, et al. 2013. “Improved Exome Prioritization of Disease Genes Through Cross Species Phenotype Comparison.” Genome Research Epub ahead of print (October). doi:10.1101/gr.160325.113. http://genome.cshlp.org/cgi/doi/10.1101/gr.160325.113.

Robinson, Peter N., Mungall, C. J., and Melissa Haendel. 2015. “Capturing Phenotypes for Precision Medicine.” Molecular Case Studies 1 (1) (October): a000372. doi:10.1101/mcs.a000372. http://molecularcasestudies.cshlp.org/content/1/1/a000372.full.

Smedley, Damian, Anika Oellrich, Sebastian Köhler, Barbara Ruef, Monte Westerfield, Peter Robinson, Suzanna Lewis, and Mungall, C. 2013. “PhenoDigm: analyzing Curated Annotations to Associate Animal Models with Human Diseases.” Database: the Journal of Biological Databases and Curation 2013: bat025.

Washington, Nicole L., Melissa A. Haendel, Mungall, C. J., Michael Ashburner, Monte Westerfield, and Suzanna E. Lewis. 2009. “Linking Human Diseases to Animal Models Using Ontology-Based Phenotype Annotation.” Journal article. PLoS Biology 7 (11) (November). doi:10.1371/journal.pbio.1000247. http://www.plosbiology.org/article/info:doi/10.1371/journal.pbio.1000247.

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