Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome

Lignende værker

• Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1
  af: Sanford, Erica, et al.
  Udgivet: (2018)
• Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage
  af: Briggs, Benjamin, et al.
  Udgivet: (2018)
• Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann–Pick type C1 disease in a 7-week-old male with cholestasis
  af: Hildreth, Amber, et al.
  Udgivet: (2017)
• The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections
  af: Sweeney, Nathaly M., et al.
  Udgivet: (2018)
• Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
  af: Farnaes, Lauge, et al.
  Udgivet: (2018)