1 40 1 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 A name given to the resource June 2021 List Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. Citation List Month June 2021 List URL Address <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 A name given to the resource Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield Publisher An entity responsible for making the resource available Genetics in Medicine Date A point or period of time associated with an event in the lifecycle of the resource 2020 Subject The topic of the resource Aged; Critical Illness; exome sequencing; Exome/genetics; Genetic Testing; Humans; Infant; Infant Newborn; intensive care unit; neonates; Phenotype; Prospective Studies; Whole Exome Sequencing Creator An entity primarily responsible for making the resource 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 An account of the resource 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. Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1038/s41436-019-0708-6" target="_blank" rel="noreferrer noopener">10.1038/s41436-019-0708-6</a> Rights Information about rights held in and over the resource 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