Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield - Concepedia

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Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

DOI Full Paper Access

118

Citations

32

References

2019

Year

Cynthia S. Gubbels, Grace E. VanNoy, Jill A. Madden, Deborah Copenheaver, Sandra Yang, Monica H. Wojcik, Nina B. Gold, Casie A. Genetti, Joan M. Stoler, Richard B. Parad,

Genetics in Medicine

Phenotype-driven SelectionNewborn ScreeningSequencingNeonatologyFunctional GenomicsIll NeonatesGeneticsMedicineNext-generation SequencingPediatricsPrenatal DiagnosisGenomicsMolecular DiagnosticsBioinformaticsRapid Exome SequencingVariant Interpretation

References

	Year	Citations

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