The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
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In the citing paper
“As of January 2023, the DrugCentral database contains 2331 FDA-approved human drugs associated with 2644 drug indications and 866 off-label uses (47).”
From Artificial Intelligence for Drug Discovery: Are We There Yet? (2024) · cites this paper as [47]
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Citations
Cites
Unexplored therapeutic opportunities in the human genome
Oprea, T. I., Bologa, C. G., Brunak, S., Campbell, A., Gan, G. N., Gaulton, A., Gomez, S. M., Guha, R., Hersey, A., Holmes, J., et al. (2018) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2018.14 · Cited by 378
Self-citationTherapies for rare diseases: therapeutic modalities, progress and challenges ahead
Tambuyzer, E., Vandendriessche, B., Austin, C. P., Brooks, P. J., Larsson, K., Miller Needleman, K. I., Valentine, J., Davies, K., Groft, S. C., Preti, R., et al. (2020) · Nature Reviews Drug Discovery · doi:10.1038/s41573-019-0049-9 · Cited by 357
Self-citationClassification, Ontology, and Precision Medicine
Haendel, M. A., Chute, C. G., & Robinson, P. N. (2018) · New England Journal of Medicine · doi:10.1056/nejmra1615014 · Cited by 324
Self-citationErratum: Unexplored therapeutic opportunities in the human genome
Oprea, T. I., Bologa, C., Brunak, S., Campbell, A., Gan, G. N., Gaulton, A., Gomez, S. M., Guha, R., Hersey, A., Holmes, J., et al. (2018) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2018.52 · Cited by 303
Self-citationA Census of Disease Ontologies
Haendel, M. A., McMurry, J. A., Relevo, R., Mungall, C. J., Robinson, P. N., & Chute, C. G. (2018) · Annual Review of Biomedical Data Science · doi:10.1146/annurev-biodatasci-080917-013459 · Cited by 49
Self-citationMungall, C., Koehler, S., Robinson, P. N., Holmes, I. H., & Haendel, M. A. (2016) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/048843 · Cited by 20
Self-citation
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A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Marwaha, S., Knowles, J. W., & Ashley, E. A. (2022) · Genome Medicine · doi:10.1186/s13073-022-01026-w · Cited by 393
“About 7000 rare disorders are defined [2, 3] and many others fall under the umbrella of undiagnosed diseases.”
BackgroundTherapies for rare diseases: therapeutic modalities, progress and challenges ahead
Tambuyzer, E., Vandendriessche, B., Austin, C. P., Brooks, P. J., Larsson, K., Miller Needleman, K. I., Valentine, J., Davies, K., Groft, S. C., Preti, R., et al. (2020) · Nature Reviews Drug Discovery · doi:10.1038/s41573-019-0049-9 · Cited by 357
“level terms) available from the analysis described in reF.(153) and the number of orphan drugs receiving approval by the FDA”
MethodSelf-citationGA4GH: International policies and standards for data sharing across genomic research and healthcare
Rehm, H. L., Page, A. J. H., Smith, L., Adams, J. B., Alterovitz, G., Babb, L. J., Barkley, M. P., Baudis, M., Beauvais, M. J. S., Beck, T., et al. (2021) · Cell Genomics · doi:10.1016/j.xgen.2021.100029 · Cited by 342
“…streamline global access to datasets generated in any country 9,10 (2) Genomic knowledge standards : Develops specifications and data models for exchanging genomic variant observations and knowledge 18 (3) Cloud : Develops federated analysis approaches to support the statistical rigor needed to…”
Self-citationIncomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts
Kingdom, R., & Wright, C. F. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.920390 · Cited by 318
“, 2020) of all rare diseases are genetic in origin, andmost of these are thought to bemonogenic in nature (Haendel et al., 2020).”
BackgroundArtificial Intelligence for Drug Discovery: Are We There Yet?
Hasselgren, C., & Oprea, T. I. (2024) · Annual Review of Pharmacology and Toxicology · doi:10.1146/annurev-pharmtox-040323-040828 · Cited by 236
“A systematic analysis of resources integrated into Mondo revealed nearly 10,500 unique rare diseases, in contrast to the commonly cited 7,000 figure (46).”
BackgroundSelf-citation
Metadata
- Authors
- Haendel, M., Vasilevsky, N., Unni, D., Bologa, C., Harris, N., Rehm, H., Hamosh, A., Baynam, G., Groza, T., McMurry, J., Dawkins, H., Rath, A., Thaxton, C., Bocci, G., Joachimiak, M. P., Köhler, S., Robinson, P. N., Mungall, C., & Oprea, T. I.
- Affiliations
- Oregon Health & Science University (US)
- Lawrence Berkeley National Laboratory (US)
- University of New Mexico (US)
- Massachusetts General Hospital (US)
- Johns Hopkins University (US)
- Government of Western Australia Department of Health (AU)
- Oregon State University (US)
- Inserm (FR)
- University of North Carolina at Chapel Hill (US)
- Freie Universität Berlin (DE)
- The Jackson Laboratory for Genomic Medicine (US)
- Corresponding author
- Haendel, Melissa
- Oprea, Tudor I.
- ORCID
- Venue
- Nature Reviews Drug Discovery
- Published
- 2019-11-05
- Volume
- 19
- Issue
- 2
- Pages
- 77-78
- ISSN
- 1474-1776 (ISSN-L)
- 1474-1784
- PMC
- PMC7771654
- OpenAlex
- W2988630324
- Cited by
- 554
- References
- 6
- Citations by year
- 2026: 69 · 2025: 115 · 2024: 133 · 2023: 100 · 2022: 75 · 2021: 46 · 2020: 15 · 2019: 1
- FWCI
- 22.15
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- Locations
- Nature Reviews Drug Discovery (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Institutes of Health (U24TR002278, R24OD011883)
- National Human Genome Research Institute (U41HG009650, U41HG006627, RM1HG010860, U24HG009650)
- National Cancer Institute (U24CA224370, U01CA239108, P30CA118100)
- National Center for Advancing Translational Sciences
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Epidemiology › Chronic Disease Management Strategies
- Keywords
- rare diseases, disease prevalence, disease definition, disease burden, rare disease epidemiology, rare disease research
- MeSH terms
- Humans, Phenotype, Rare Diseases
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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