Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluation
Helen McDermott, Charlotte Sherlaw‐Sturrock, Júlia Baptista, Lorraine Hartles-Spencer, Swati Naik
Topics & Concepts
Exome sequencingExomeMedicineProbandPediatricsCohortGeneticsInternal medicineBiologyMutationGeneGenomics and Rare DiseasesNeurogenetic and Muscular Disorders ResearchHereditary Neurological Disorders