Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis
Article Properties
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LanguageEnglish
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DOI (url)
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Publication Date2018/11/01
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Journal
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Indian UGC (journal)
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Refrences20
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Citations23
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Zöe Powis
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Kelly D. Farwell Hagman
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Virginia Speare
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Taylor Cain
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Kirsten Blanco
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Layla S. Mowlavi
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Emily M. Mayerhofer
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David Tilstra
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Timothy Vedder
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Jesse M. Hunter
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Marilyn Tsang
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Lina Gonzalez
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Gerald Vockley
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Sha Tang
Cite
Powis, Zöe, et al. “Exome Sequencing in Neonates: Diagnostic Rates, Characteristics, and Time to Diagnosis”. Genetics in Medicine, vol. 20, no. 11, 2018, pp. 1468-71, https://doi.org/10.1038/gim.2018.11.
Powis, Z., Farwell Hagman, K. D., Speare, V., Cain, T., Blanco, K., Mowlavi, L. S., Mayerhofer, E. M., Tilstra, D., Vedder, T., Hunter, J. M., Tsang, M., Gonzalez, L., Vockley, G., & Tang, S. (2018). Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis. Genetics in Medicine, 20(11), 1468-1471. https://doi.org/10.1038/gim.2018.11
Powis, Zöe, Kelly D. Farwell Hagman, Virginia Speare, Taylor Cain, Kirsten Blanco, Layla S. Mowlavi, Emily M. Mayerhofer, et al. “Exome Sequencing in Neonates: Diagnostic Rates, Characteristics, and Time to Diagnosis”. Genetics in Medicine 20, no. 11 (2018): 1468-71. https://doi.org/10.1038/gim.2018.11.
Powis Z, Farwell Hagman KD, Speare V, Cain T, Blanco K, Mowlavi LS, et al. Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis. Genetics in Medicine. 2018;20(11):1468-71.
Journal Categories
Medicine
Medicine (General)
Medicine
Medicine (General)
Medical technology
Science
Biology (General)
Genetics
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Refrences
| Title | Journal | Journal Categories | Citations | Publication Date |
|---|---|---|---|---|
Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort | American Journal of Medical Genetics Part A |
| 23 | 2017 |
| Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort | ||||
| NHLBI Exome Sequencing Project (ESP)Exome Variant Server. http://evs.gs.washington.edu/EVS. | ||||
| NHLBI Exome Sequencing Project (ESP)Exome Variant Server. http://evs.gs.washington.edu/EVS. | ||||
| NHLBI Exome Sequencing Project (ESP)Exome Variant Server. http://evs.gs.washington.edu/EVS. |
Citations
| Title | Journal | Journal Categories | Citations | Publication Date |
|---|---|---|---|---|
| Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder | European Journal of Human Genetics |
| 2024 | |
| Hospital-level variation in genetic testing in children’s hospitals’ neonatal intensive care units from 2016 to 2021 | Genetics in Medicine |
| 6 | 2023 |
| Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations | Genetics in Medicine |
| 15 | 2023 |
| Rapid Exome and Genome Sequencing in the Intensive Care Unit | Critical Care Clinics |
| 5 | 2022 |
| Molecular Diagnostic Outcomes from 700 Cases | The Journal of Molecular Diagnostics |
| 7 | 2022 |
Citations Analysis
The category
Medicine: Medicine (General) 14
is the most commonly referenced area in studies that cite this article. The first research to cite this article was titled Diagnosing rare diseases after the exome and was published in 2018. The most recent citation comes from a 2024 study titled Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder. This article reached its peak citation in 2021, with 6 citations. It has been cited in 21 different journals, 23% of which are open access. Among related journals, the European Journal of Human Genetics cited this research the most, with 2 citations. The chart below illustrates the annual citation trends for this article.