Time to make rare disease diagnosis accessible to all
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Cites
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
The 100, 0. G. P. P. I. (2021) · New England Journal of Medicine · doi:10.1056/nejmoa2035790 · Cited by 716 · see citing works
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
Philippakis, A., Azzariti, D. R., Beltrán, S., Brookes, A. J., Brownstein, C. A., Brudno, M., Brunner, H. G., Buske, O. J., Carey, K., Doll, C., et al. (2015) · Human Mutation · doi:10.1002/humu.22858 · Cited by 470 · see citing works
Self-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 324 · see citing works
Self-citationStranneheim, H., Lagerstedt‐Robinson, K., Magnusson, M., Kvarnung, M., Nilsson, D., Lesko, N., Engvall, M., Anderlid, B., Arnell, H., Johansson, C. B., et al. (2021) · Genome Medicine · doi:10.1186/s13073-021-00855-5 · Cited by 270 · see citing works
Bragin, E., Chatzimichali, E. A., Wright, C. F., Hurles, M. E., Firth, H. V., Bevan, A. P., & Swaminathan, G. J. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt937 · Cited by 233 · see citing works
ClinVar at five years: Delivering on the promise
Landrum, M., & Kattman, B. L. (2018) · Human Mutation · doi:10.1002/humu.23641 · Cited by 210 · see citing works
Rehder, C. W., Bean, L. J., Bick, D. P., Chao, E., Chung, W. K., Das, S., O’Daniel, J. M., Rehm, H. L., Shashi, V., & Vincent, L. M. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01139-4 · Cited by 149 · see citing works
Self-citationBertoli‐Avella, A. M., Beetz, C., Ameziane, N., Rocha, M. E., Moreno, P. G., Pereira, C., Calvo, M., Ordonez‐Herrera, N., Castell, M. S., Diego‐Álvarez, D., et al. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-00713-9 · Cited by 124 · see citing works
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity
Costain, G., Walker, S., Marano, M. M., Veenma, D. C. M., Snell, M., Curtis, M., Luca, S., Buera, J., Arje, D., Reuter, M. S., et al. (2020) · JAMA Network Open · doi:10.1001/jamanetworkopen.2020.18109 · Cited by 89 · see citing works
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Few 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
- Rehm, H. L.
- Affiliations
- Broad Institute (US)
- Corresponding author
- Rehm, Heidi L.
- ORCID
- Rehm, Heidi L.
- Venue
- Nature Medicine
- Published
- 2022-02
- Volume
- 28
- Issue
- 2
- Pages
- 241-242
- ISSN
- 1078-8956 (ISSN-L)
- 1546-170X
- PMC
- PMC8866216
- OpenAlex
- W4210314012
- Cited by
- 33
- References
- 9
- Citations by year
- 2026: 4 · 2025: 9 · 2024: 4 · 2023: 12 · 2022: 4
- FWCI
- 4.37
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Nature Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Medical Research Council (MR/S005021/1)
- National Human Genome Research Institute (U01HG011755)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Keywords
- rare diseases, genomic diagnostics, diagnostic accessibility, genomic data sharing, precision medicine
- MeSH terms
- Delivery of Health Care, Humans, Rare Diseases
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