Integrating rapid exome sequencing into NICU clinical care after a pilot research study
Published 2022 View Full Article
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Title
Integrating rapid exome sequencing into NICU clinical care after a pilot research study
Authors
Keywords
-
Journal
npj Genomic Medicine
Volume 7, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2022-09-05
DOI
10.1038/s41525-022-00326-9
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Note: Only part of the references are listed.- Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing
- (2021) Jill L. Maron et al. JAMA Pediatrics
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- (2021) Kandamurugu Manickam et al. GENETICS IN MEDICINE
- Implementing Rapid Whole-Genome Sequencing in Critical Care: A Qualitative Study of Facilitators and Barriers to New Technology Adoption
- (2021) Linda S. Franck et al. JOURNAL OF PEDIATRICS
- Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease
- (2021) et al. JAMA Pediatrics
- Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions
- (2020) Hadley Stevens Smith et al. GENETICS IN MEDICINE
- Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
- (2020) et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children
- (2020) Amanda S. Freed et al. JOURNAL OF PEDIATRICS
- Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
- (2019) Courtney E. French et al. INTENSIVE CARE MEDICINE
- Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
- (2019) Klaus Schmitz-Abe et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges
- (2019) Alison M. Elliott et al. EUROPEAN JOURNAL OF PEDIATRICS
- Making a Genetic Diagnosis in a Level IV Neonatal Intensive Care Unit Population: Who, When, How, and at What Cost?
- (2019) Kayleigh A. Swaggart et al. JOURNAL OF PEDIATRICS
- A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants
- (2019) Stephen F. Kingsmore et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
- (2019) Cynthia S. Gubbels et al. GENETICS IN MEDICINE
- Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities
- (2018) Monica H Wojcik et al. GENETICS IN MEDICINE
- Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
- (2018) Lauge Farnaes et al. npj Genomic Medicine
- The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
- (2018) Josh E. Petrikin et al. npj Genomic Medicine
- Rapid Targeted Genomics in Critically Ill Newborns
- (2017) Cleo C. van Diemen et al. PEDIATRICS
- Use of Exome Sequencing for Infants in Intensive Care Units
- (2017) Linyan Meng et al. JAMA Pediatrics
- A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
- (2016) Zornitza Stark et al. GENETICS IN MEDICINE
- Clinical application of whole-exome sequencing across clinical indications
- (2015) Kyle Retterer et al. GENETICS IN MEDICINE
- Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings
- (2015) Laurel K Willig et al. Lancet Respiratory Medicine
- Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
- (2012) C. J. Saunders et al. Science Translational Medicine
- Research electronic data capture (REDCap)—A metadata-driven methodology and workflow process for providing translational research informatics support
- (2008) Paul A. Harris et al. JOURNAL OF BIOMEDICAL INFORMATICS
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