Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome
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Speedy Genetic Diagnosis Infantile encephalopathy is associated with approximately 1500 genetic diseases. Without prompt treatment, permanent neurologic injury or death may occur. Here, the genome ...
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As the scientific field advances, the cost-effectiveness profile of WGS will become increasingly favorable, facilitating combination of clinical and biomarker data with already available genetic data to arrive at rapid diagnosis of conditions previously difficult to detect.
“As the scientific field advances, the cost-effectiveness profile of WGS will become increasingly favorable, facilitating the combination of clinical and biomarker data with already available genetic data to arrive at a rapid diagnosis of conditions that were previously difficult to detect 29 .”
From Multimodal biomedical AI (2022) · cites this paper as [29]
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Cites
Clark, M. M., Hildreth, A., Batalov, S., Ding, Y., Chowdhury, S., Watkins, K., Ellsworth, K., Camp, B., Kint, C. I., Yacoubian, C., et al. (2019) · Science Translational Medicine · doi:10.1126/scitranslmed.aat6177 · Cited by 300 · see citing works
Self-citationDimmock, D., Clark, M. M., Gaughran, M., Cakici, J. A., Caylor, S. A., Clarke, C., Feddock, M., Chowdhury, S., Salz, L., Cheung, C., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.10.003 · Cited by 189 · see citing works
Self-citationGenetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes
Lee, J. S., Yoo, T., Lee, M., Lee, Y., Jeon, E., Kim, S. Y., Lim, B. C., Kim, K. J., Choi, M., & Chae, J. (2020) · Clinical Genetics · doi:10.1111/cge.13713 · Cited by 92 · see citing works
Kingsmore, S. F., Ramchandar, N., James, K. N., Niemi, A., Feigenbaum, A., Ding, Y., Benson, W., Hobbs, C. A., Nahas, S., Chowdhury, S., et al. (2020) · Molecular Case Studies · doi:10.1101/mcs.a004705 · Cited by 20 · see citing works
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- [4]Tabarki B, Al-Hashem A, Alfadhel M. Biotin-thiamine-responsive basal ganglia disease. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews [Internet]. Seattle: University of Washington, Seattle, 2013: 1993– 2020 (https://www.ncbi.nlm.nih.gov/books/NBK169615/). 24260777
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Acosta, J. N., Falcone, G. J., Rajpurkar, P., & Topol, E. J. (2022) · Nature Medicine · doi:10.1038/s41591-022-01981-2 · Cited by 1,365 · see citing works
- Authors
- Owen, M. J., Niemi, A.-K., Dimmock, D. P., Speziale, M., Nespeca, M., Chau, K. K., Van Der Kraan, L., Wright, M. S., Hansen, C., Veeraraghavan, N., Ding, Y., Lenberg, J., Chowdhury, S., Hobbs, C. A., Batalov, S., Zhu, Z., Nahas, S. A., Gilmer, S., Knight, G., Lefebvre, S., Reynders, J., Defay, T., Weir, J., Thomson, V. S., Fraser, L., Lajoie, B. R., McPhail, T. K., Mehtalia, S. S., Kunard, C. M., Hall, K. P., & Kingsmore, S. F.
- Affiliations
- Rady Children's Institute for Genomic Medicine (US)
- Rady Children's Hospital-San Diego (US)
- Rady Children’s Institute for Genomic Medicine, San Diego, CA
- Alexion Pharmaceuticals, Boston, MA
- Alexion Pharmaceuticals (United States) (US)
- Illumina (United States) (US)
- ORCID
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2021-06-03
- Volume
- 384
- Issue
- 22
- Pages
- 2159-2161
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC9844116
- OpenAlex
- W3164777738
- Cited by
- 73
- References
- 4
- Citations by year
- 2026: 3 · 2025: 11 · 2024: 11 · 2023: 11 · 2022: 29 · 2021: 7
- FWCI
- 10.21
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- J. Willard and Alice S. Marriott Foundation
- National Center for Advancing Translational Sciences (UL1TR002550)
- Alexion
- Ernest and Evelyn Rady
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Neurology › Alcoholism and Thiamine Deficiency
- Keywords
- pediatric encephalopathy, genetic diagnosis, inborn errors of metabolism
- MeSH terms
- Whole Genome Sequencing, Brain, Brain Diseases, Humans, Infant, Male, Metabolism, Inborn Errors, Time Factors, Tomography, X-Ray Computed, Precision Medicine, High-Throughput Nucleotide Sequencing
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