Article
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne - 9 Aug 2016
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
Abstract excerpt
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 diagnosis when no recognizable syndrome is suspected. For this pilot project, we assessed the feasibility of next-generation...
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