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Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
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June 2021 List
Text
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June 2021 List
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<a href="http://doi.org/10.1038/s41436-019-0708-6" target="_blank" rel="noreferrer noopener">http://doi.org/10.1038/s41436-019-0708-6</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
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Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
Publisher
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Genetics in Medicine
Date
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2020
Subject
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Aged; Critical Illness; exome sequencing; Exome/genetics; Genetic Testing; Humans; Infant; Infant Newborn; intensive care unit; neonates; Phenotype; Prospective Studies; Whole Exome Sequencing
Creator
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Gubbels CS; VanNoy GE; Madden JA; Copenheaver D; Yang S; Wojcik MH; Gold NB; Genetti CA; Stoler J; Parad RB; Roumiantsev S; Bodamer O; Beggs AH; Juusola J; Agrawal PB; Yu TW
Description
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PURPOSE: To investigate the impact of rapid-turnaround exome sequencing in critically ill neonates using phenotype-based subject selection criteria. METHODS: Intensive care unit babies aged <6 months with hypotonia, seizures, a complex metabolic phenotype, and/or multiple congenital malformations were prospectively enrolled for rapid (<7 day) trio-based exome sequencing. Genomic variants relevant to the presenting phenotype were returned to the medical team. RESULTS: A genetic diagnosis was attained in 29 of 50 (58%) sequenced cases. Twenty-seven (54%) patients received a molecular diagnosis involving known disease genes; two additional cases (4%) were solved with pathogenic variants found in novel disease genes. In 24 of the solved cases, diagnosis had impact on patient management and/or family members. Management changes included shift to palliative care, medication changes, involvement of additional specialties, and the consideration of new experimental therapies. CONCLUSION: Phenotype-based patient selection is effective at identifying critically ill neonates with a high likelihood of receiving a molecular diagnosis via rapid-turnaround exome sequencing, leading to faster and more accurate diagnoses, reducing unnecessary testing and procedures, and informing medical care.
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<a href="http://doi.org/10.1038/s41436-019-0708-6" target="_blank" rel="noreferrer noopener">10.1038/s41436-019-0708-6</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
2020
Aged
Agrawal PB
Beggs AH
Bodamer O
Copenheaver D
Critical Illness
exome sequencing
Exome/genetics
Genetic Testing
Genetics in Medicine
Genetti CA
Gold NB
Gubbels CS
Humans
Infant
Infant Newborn
Intensive Care Unit
June 2021 List
Juusola J
Madden JA
Neonates
Parad RB
Phenotype
Prospective Studies
Roumiantsev S
Stoler J
VanNoy GE
Whole Exome Sequencing
Wojcik MH
Yang S
Yu TW