The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension
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The Precision Medicine Initiative
Ashley, E. A. (2015) · JAMA · doi:10.1001/jama.2015.3595 · Cited by 562 · see citing works
Self-citationRobinson, P. N., & Mundlos, S. (2010) · Clinical Genetics · doi:10.1111/j.1399-0004.2010.01436.x · Cited by 357 · see citing works
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
Gahl, W. A., Markello, T. C., Toro, C., Fajardo, K. F., Sincan, M., Gill, F., Carlson-Donohoe, H., Gropman, A., Pierson, T. M., Golas, G., et al. (2012) · Genetics in Medicine · doi:10.1038/gim.0b013e318232a005 · Cited by 291 · see citing works
Self-citationThe NIH Undiagnosed Diseases Program
Gahl, W. A. (2011) · JAMA · doi:10.1001/jama.2011.613 · Cited by 124 · see citing works
Self-citationThe National Institutes of Health undiagnosed diseases program
Tifft, C. J., & Adams, D. R. (2014) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000000155 · Cited by 59 · see citing works
Chronic myopathy due to immunoglobulin light chain amyloidosis
Manoli, I., Kwan, J. Y., Wang, Q., et al. (2013) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2013.01.015 · Cited by 20 · see citing works
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Ashley, E. A. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.86 · Cited by 1,116 · see citing works
Self-citationInternational Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Boycott, K. M., Rath, A., Chong, J. X., Hartley, T., Alkuraya, F. S., Baynam, G., Brookes, A. J., Brudno, M., Carracedo, A., den Dunnen, J. T., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.04.003 · Cited by 447 · see citing works
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
Splinter, K., Adams, D. R., Bacino, C. A., Bellen, H. J., Bernstein, J. A., Cheatle-Jarvela, A. M., Eng, C. M., Esteves, C., Gahl, W. A., Hamid, R., et al. (2018) · New England Journal of Medicine · doi:10.1056/nejmoa1714458 · Cited by 359 · see citing works
Self-citationFew shot learning for phenotype-driven diagnosis of patients with rare genetic diseases
Alsentzer, E., Li, M. M., Kobren, S. N., Noori, A., Undiagnosed Diseases Network, Kohane, I. S., & Zitnik, M. (2025) · npj Digital Medicine · doi:10.1038/s41746-025-01749-1 · Cited by 54 · see citing works
Simulation of undiagnosed patients with novel genetic conditions
Alsentzer, E., Finlayson, S. G., Li, M. M., Undiagnosed Diseases Network, Kobren, S. N., & Kohane, I. S. (2023) · Nature Communications · doi:10.1038/s41467-023-41980-6 · Cited by 10 · see citing works
- Authors
- Gahl, W. A., Wise, A. L., & Ashley, E. A.
- Affiliations
- National Institutes of Health (US)
- Stanford University (US)
- Venue
- JAMA
- Publisher
- American Medical Association (AMA)
- Published
- 2015-11-03
- Volume
- 314
- Issue
- 17
- Pages
- 1797
- ISSN
- 0002-9955 (ISSN-L)
- 0098-7484
- OpenAlex
- W2109784169
- Cited by
- 114
- References
- 6
- Citations by year
- 2026: 1 · 2025: 10 · 2024: 11 · 2023: 9 · 2022: 13 · 2021: 12 · 2020: 10 · 2019: 14 · 2018: 10 · 2017: 12 · 2016: 11 · 2015: 1
- FWCI
- 7.79
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- JAMA (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Human Genome Research Institute (U01HG007709, U01HG007943, U01HG007703, U01HG007530, U01HG007674, U01HG007690, U01HG007942, U01HG007708, U01HG007672)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- Undiagnosed Diseases Network, rare diseases, diagnostic odyssey, unexplained symptoms
- MeSH terms
- Humans, National Institutes of Health (U.S.), United States, Rare Diseases
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