The DOI matches its Crossref record; 68 of the 68 references it cites were found in a registry or an index.
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
Open accessAbstract
Automated phenotyping and interpretation of rapid whole-genome sequencing improve time to diagnosis of genetic diseases in hospitalized children.
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“The lack of health care funding, the underpreparedness of the pediatric workforce, and the resource-intensive nature of rapid testing represent significant barriers to widespread adoption.”
In the citing paper
“The power of genomic diagnosis is especially clear for those presenting with monogenic neurodevelopmental disorders and critically ill infants135,136.”
From A brief history of human disease genetics (2020) · cites this paper as [136]
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Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594
ggplot2: Elegant Graphics for Data Analysis
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Carlsson, G. (2009) · Bulletin of the American Mathematical Society · doi:10.1090/s0273-0979-09-01249-x · Cited by 2,302 · cited 1×
“Development of an autonomous diagnostic system has been hindered by a dearth of knowledge of the topography of the phenomes of children with suspected genetic diseases ( 36 , 42 – 44 ).”
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InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines
Li, Q., & Wang, K. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.01.004 · Cited by 1,057
Mortality in the United States, 2020
Murphy, S. L., Kochanek, K. D., Xu, J., & Arias, E. (2021) · doi:10.15620/cdc:112079 · Cited by 864
Genetic Misdiagnoses and the Potential for Health Disparities
Manrai, A. K., Funke, B. H., Rehm, H. L., Olesen, M. S., Maron, B. A., Szolovits, P., Margulies, D. M., Loscalzo, J., & Kohane, I. S. (2016) · New England Journal of Medicine · doi:10.1056/nejmsa1507092 · Cited by 808
The ExAC browser: displaying reference data information from over 60 000 exomes
Karczewski, K. J., Weisburd, B., Thomas, B., Solomonson, M., Ruderfer, D. M., Kavanagh, D., Hamamsy, T., Lek, M., Samocha, K. E., Cummings, B. B., et al. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw971 · Cited by 790
Research works printed but not linked: 2
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- National Center for Biotechnology Information National Library of Medicine Database of Single Nucleotide Polymorphisms (dbSNP) (2018); www.ncbi.nlm.nih.gov/dbvar?term=(%22clin%20pathogenic%22%5BFilter%5D)%20AND%20homo%20sapiens%5BOrganism%5D.
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Precision medicine, AI, and the future of personalized health care
Johnson, K. B., Wei, W., Weeraratne, D., Frisse, M. E., Misulis, K., Rhee, K., Zhao, J., & Snowdon, J. L. (2021) · Clinical and Translational Science · doi:10.1111/cts.12884 · Cited by 1,854
A brief history of human disease genetics
Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., et al. (2020) · Nature · doi:10.1038/s41586-019-1879-7 · Cited by 697
Artificial intelligence in clinical and genomic diagnostics
Dias, R., & Torkamani, A. (2019) · Genome Medicine · doi:10.1186/s13073-019-0689-8 · Cited by 499
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 400
Kingsmore, S. F., Cakici, J. A., Clark, M. M., Gaughran, M., Feddock, M., Batalov, S., Bainbridge, M. N., Carroll, J. M., Caylor, S. A., Clarke, C., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.08.009 · Cited by 354
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Metadata
- Authors
- Clark, M. M., Hildreth, A., Batalov, S., Ding, Y., Chowdhury, S., Watkins, K., Ellsworth, K., Camp, B., Kint, C. I., Yacoubian, C., Farnaes, L., Bainbridge, M. N., Beebe, C., Braun, J. J. A., Bray, M., Carroll, J., Cakici, J. A., Caylor, S. A., Clarke, C., Creed, M. P., Friedman, J., Frith, A., Gain, R., Gaughran, M., George, S., Gilmer, S., Gleeson, J., Gore, J., Grunenwald, H., Hovey, R. L., Janes, M. L., Lin, K., McDonagh, P. D., McBride, K., Mulrooney, P., Nahas, S., Oh, D., Oriol, A., Puckett, L., Rady, Z., Reese, M. G., Ryu, J., Salz, L., Sanford, E., Stewart, L., Sweeney, N., Tokita, M., Van Der Kraan, L., White, S., Wigby, K., Williams, B., Wong, T., Wright, M. S., Yamada, C., Schols, P., Reynders, J., Hall, K., Dimmock, D., Veeraraghavan, N., Defay, T., & Kingsmore, S. F.
- Affiliations
- Rady Children's Institute for Genomic Medicine (US)
- University of Washington (US)
- Rady Children’s Institute for Genomic Medicine, San Diego, CA 92123, USA.
- Diploid, 3001 Leuven, Belgium.
- Clinithink Ltd., London N1 6DR, UK.
- University of California San Diego (US)
- GenomeDesigns Lab (United States) (US)
- Rady Children's Hospital-San Diego (US)
- Alexion Pharmaceuticals (United States) (US)
- University of Kansas (US)
- Tessella, Needham, MA 02494, USA.
- Illumina (United States) (US)
- Ontario Genomics (CA)
- Corresponding author
- Kingsmore, Stephen F.
- ORCID
- Clark, Michelle M.
- Hildreth, Amber
- Batalov, Sergey
- Ding, Yan
- Chowdhury, Shimul
- Watkins, Kelly
- Ellsworth, Katarzyna
- Kint, Cyrielle I.
- Yacoubian, Calum
- Farnaes, Lauge
- Bainbridge, Matthew N.
- Braun, Joshua J. A.
- Bray, Margaret
- Carroll, Jeanne
- Cakici, Julie A.
- Clarke, Christina
- Creed, Mitchell P.
- Friedman, Jennifer
- George, Shauna
- Gilmer, Sheldon
- Gleeson, Joseph
- Gore, Jeremy
- Grunenwald, Haiying
- Hovey, Raymond L.
- Janes, Marie L.
- Lin, Kejia
- Mulrooney, Patrick
- Nahas, Shareef
- Oh, Daeheon
- Oriol, Albert
- Reese, Martin G.
- Ryu, Julie
- Salz, Lisa
- Stewart, Lawrence
- Sweeney, Nathaly
- Van Der Kraan, Luca
- Wigby, Kristen
- Williams, Brett
- Reynders, John
- Hall, Kevin
- Dimmock, David
- Veeraraghavan, Narayanan
- Defay, Thomas
- Kingsmore, Stephen F.
- Venue
- Science Translational Medicine
- Published
- 2019-04-24
- Volume
- 11
- Issue
- 489
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC9512059
- OpenAlex
- W2942272601
- Cited by
- 300
- References
- 68
- Citations by year
- 2026: 27 · 2025: 39 · 2024: 25 · 2023: 40 · 2022: 57 · 2021: 44 · 2020: 51 · 2019: 17
- FWCI
- 25.38
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Institutes of Health (u19hd077693, UL1TR002550, U01TR002271)
- 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
- Health Sciences › Medicine › Health Informatics › Artificial Intelligence in Healthcare and Education
- Keywords
- genetic disease diagnosis, whole genome sequencing, automated phenotyping, natural language processing, electronic health records, neonatal intensive care, pediatric intensive care, critically ill infants, rapid sequencing, precision medicine
- MeSH terms
- Female, Humans, Intensive Care Units, Natural Language Processing, Retrospective Studies, Diabetic Ketoacidosis, Genomics, Electronic Health Records
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