Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

BACKGROUND: Rare diseases often present in the first days and weeks of life and may require complex management in the setting of a neonatal intensive care unit (NICU). Exhaustive consultations and traditional genetic or metabolic investigations are costly and often fail to arrive at a final diagnosi...

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Detalhes bibliográficos
Publicado no:CMAJ
Main Authors: Daoud, Hussein, Luco, Stephanie M., Li, Rui, Bareke, Eric, Beaulieu, Chandree, Jarinova, Olga, Carson, Nancy, Nikkel, Sarah M., Graham, Gail E., Richer, Julie, Armour, Christine, Bulman, Dennis E., Chakraborty, Pranesh, Geraghty, Michael, Lines, Matthew A., Lacaze-Masmonteil, Thierry, Majewski, Jacek, Boycott, Kym M., Dyment, David A.
Formato: Artigo
Idioma:Inglês
Publicado em: Joule Inc. 2016
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4978597/
https://ncbi.nlm.nih.gov/pubmed/27241786
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1503/cmaj.150823
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