Collaborative efforts to improve genetic testing in the neonatal intensive care unit
Author:
Publisher
Springer Science and Business Media LLC
Subject
Obstetrics and Gynecology,Pediatrics, Perinatology and Child Health
Link
https://www.nature.com/articles/s41372-023-01817-y.pdf
Reference24 articles.
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2. Freed AS, Clowes Candadai SV, Sikes MC, Thies J, Byers HM, Dines JN, et al. The impact of rapid exome sequencing on medical management of critically ill children. J Pediatr. 2020;226:202–12.e1.
3. Gubbels CS, VanNoy GE, Madden JA, Copenheaver D, Yang S, Wojcik MH, et al. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genet Med. 2020;22:736–44.
4. Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, et al. Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management. JAMA Pediatr. 2017;171:e173438.
5. Stark Z, Tan TY, Chong B, Brett GR, Yap P, Walsh M, et al. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genet Med. 2016;18:1090–6.
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1. Improving genetic testing utilization in a tertiary care neonatal intensive care unit through quality improvement;American Journal of Medical Genetics Part A;2024-08-12
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