RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges

Author:

Elliott Alison M.ORCID,du Souich Christèle,Lehman Anna,Guella Ilaria,Evans Daniel M.,Candido Tara,Tooman Leah,Armstrong Linlea,Clarke Lorne,Gibson William,Gill Harinder,Lavoie Pascal M.,Lewis Suzanne,McKinnon Margaret L.,Nikkel Sarah M.,Patel Millan,Solimano Alfonso,Synnes Anne,Ting Joseph,van Allen Margot,Christilaw Jan,Farrer Matthew J.,Friedman Jan M.,Osiovich Horacio

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Reference23 articles.

1. Weiner J, Sharma J, Lantos J, Kilbride H (2011) How infants die in the neonatal intensive care unit: trends from 1999 through 2008. Arch Pediatr Adolesc Med 165(7):630–634. https://doi.org/10.1001/archpediatrics.2011.102

2. Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR (2017) Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management. JAMA Pediatr 171(12):e173438. https://doi.org/10.1001/jamapediatrics.2017.3438

3. Bowdin SC (2016) The clinical utility of next-generation sequencing in the neonatal intensive care unit. CMAJ. 188(11):786–787. https://doi.org/10.1503/cmaj.160490

4. Stark Z, Lunke S, Brett GR et al (2018) Meeting the challenges of implementing rapid genomic testing in acute pediatric care. Genet Med 20:1554–1563. https://doi.org/10.1038/gim.2018.37

5. van Diemen CC, Kerstjens-Frederikse WS, Bergman KA, de Koning TJ, Sikkema-Raddatz B, van der Velde JK, Abbott KM, Herkert JC, Löhner K, Rump P, Meems-Veldhuis MT, Neerincx PBT, Jongbloed JDH, van Ravenswaaij-Arts CM, Swertz MA, Sinke RJ, van Langen IM, Wijmenga C (2017) Rapid targeted genomics in critically ill newborns. Pediatrics. 140(4):e20162854. https://doi.org/10.1542/peds.2016-2854

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