Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions
Hadley Stevens Smith, J. Michael Swint, Seema R. Lalani, Marcia C. de Oliveira Otto, José‐Miguel Yamal, Heidi V. Russell, Brendan Lee
Topics & Concepts
MedicineCohortGenetic testingReferralPediatricsMedical diagnosisExome sequencingCohort studyEtiologyMedical recordIntensive care medicineInternal medicineFamily medicineMutationPathologyGeneticsBiologyGeneGenomics and Rare DiseasesNeurogenetic and Muscular Disorders ResearchMetabolism and Genetic Disorders