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Editorial
. 2020 Nov:226:14-15.
doi: 10.1016/j.jpeds.2020.08.006. Epub 2020 Aug 6.

Is Rapid Exome Sequencing Standard of Care in the Neonatal and Pediatric Intensive Care Units?

Stephen F Kingsmore  1
Affiliations
Editorial

Is Rapid Exome Sequencing Standard of Care in the Neonatal and Pediatric Intensive Care Units?

Stephen F Kingsmore. J Pediatr. 2020 Nov.
No abstract available

PubMed Disclaimer

Comment on

  • The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.
    Freed AS, Clowes Candadai SV, Sikes MC, Thies J, Byers HM, Dines JN, Ndugga-Kabuye MK, Smith MB, Fogus K, Mefford HC, Lam C, Adam MP, Sun A, McGuire JK, DiGeronimo R, Dipple KM, Deutsch GH, Billimoria ZC, Bennett JT. Freed AS, et al. J Pediatr. 2020 Nov;226:202-212.e1. doi: 10.1016/j.jpeds.2020.06.020. Epub 2020 Jun 15. J Pediatr. 2020. PMID: 32553838 Free PMC article.

References

    1. Freed et al. J Pediatr.
    1. Clark MM, Hildreth A, Batalov S, Ding Y, Chowdhury S, Watkins K, et al. Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation. Sci Transl Med 2019;11:eaat6177. - PMC - PubMed
    1. Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci USA 2009;106:19096–101. - PMC - PubMed
    1. Kingsmore SF, Ramchandar N, James K, Niemi AK, Feigenbaum A, Ding Y, et al. Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system. Cold Spring Harb Mol Case Stud 2020;6:a004705. - PMC - PubMed
    1. Kingsmore SF, Cakici JA, Clark MM, Gaughran M, Feddock M, Batalov S, et al. A randomized, controlled trial of the analytic and diagnostic performance of singleton and trio, rapid genome and exome sequencing in ill infants. Am J Hum Genet 2019;105: 719–33. - PMC - PubMed