The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
The Human Phenotype Ontology
Open accessAbstract
Robinson PN, Mundlos S. The Human Phenotype Ontology. A standardized, controlled vocabulary allows phenotypic information to be described in an unambiguous fashion in medical publications and databases. The Human Phenotype Ontology (HPO) is being developed in an effort to provide such a vocabulary. The use of an ontology to capture phenotypic information allows the use of computational algorithms that exploit semantic similarity between related phenotypic abnormalities to define phenotypic similarity metrics, which can be used to perform database searches for clinical diagnostics or as a basis for incorporating the human phenome into large‐scale computational analysis of gene expression patterns and other cellular phenomena associated with human disease. The HPO is freely available at http://www.human‐phenotype‐ontology.org.
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Gene Ontology: tool for the unification of biology
Ashburner, M., Ball, C. A., Blake, J. A., Botstein, D., Butler, H., Cherry, J. M., Davis, A. P., Dolinski, K., Dwight, S. S., Eppig, J. T., et al. (2000) · Nature Genetics · doi:10.1038/75556 · Cited by 43,206
Targeted capture and massively parallel sequencing of 12 human exomes
Ng, S. B., Turner, E. H., Robertson, P. D., Flygare, S. D., Bigham, A. W., Lee, C., Shaffer, T., Wong, M., Bhattacharjee, A., Eichler, E. E., et al. (2009) · Nature · doi:10.1038/nature08250 · Cited by 2,030
The human phenotype ontology: a tool for annotating and analyzing human hereditary disease
Robinson, P. N., Köhler, S., Bauer, S., Seelow, D., Horn, D., & Mundlos, S. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.09.017 · Cited by 1,034
Self-citationLim, J., Hao, T., Shaw, C., Patel, A. J., Szabó, G., Rual, J.-F., Fisk, C. J., Li, N., Smolyar, A., Hill, D. E., et al. (2006) · Cell · doi:10.1016/j.cell.2006.03.032 · Cited by 789
Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies
Köhler, S., Schulz, M. H., Krawitz, P., Bauer, S., Dölken, S., Ott, C. E., Mundlos, C., Horn, D., Mundlos, S., & Robinson, P. N. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.09.003 · Cited by 590
Self-citationSmith, C. L., Goldsmith, C.-A. W., & Eppig, J. T. (2004) · Genome Biology · doi:10.1186/gb-2004-6-1-r7 · Cited by 417
Bard, J., Rhee, S. Y., & Ashburner, M. (2005) · Genome biology · doi:10.1186/gb-2005-6-2-r21 · Cited by 416
Freimer, N., & Sabatti, C. (2003) · Nature Genetics · doi:10.1038/ng0503-15 · Cited by 372
Lage, K., Hansen, N. T., Karlberg, E. O., Eklund, A. C., Roque, F. S., Donahoe, P. K., Szallasi, Z., Jensen, T. S., & Brunak, S. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0810772105 · Cited by 292
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Disease Ontology: a backbone for disease semantic integration
Schriml, L. M., Arze, C., Nadendla, S., Chang, Y.-W. W., Mazaitis, M., Felix, V., Feng, G., & Kibbe, W. A. (2012) · Nucleic Acids Research · doi:10.1093/nar/gkr972 · Cited by 929
NCBI disease corpus: A resource for disease name recognition and concept normalization
Doğan, R. I., Leaman, R., & Lu, Z. (2014) · Journal of Biomedical Informatics · doi:10.1016/j.jbi.2013.12.006 · Cited by 820
Identifying facial phenotypes of genetic disorders using deep learning
Gurovich, Y., Hanani, Y., Bar, O., Nadav, G., Fleischer, N., Gelbman, D., Basel-Salmon, L., Krawitz, P. M., Kamphausen, S. B., Zenker, M., et al. (2019) · Nature Medicine · doi:10.1038/s41591-018-0279-0 · Cited by 739
From Big Data to Precision Medicine
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Metadata
- Authors
- Robinson, P., & Mundlos, S.
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 2010-05-09
- Volume
- 77
- Issue
- 6
- Pages
- 525-534
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W2048495389
- Cited by
- 354
- References
- 9
- FWCI
- 11.93
- Type
- journal article
- Language
- en
- Open access
- green
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
