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Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

Jennifer Malinowski, David T. Miller, Laurie Demmer, Jennifer Gannon, Elaine M. Pereira, Molly C. Schroeder, Maren T. Scheuner, Anne Chun‐Hui Tsai, Scott E. Hickey, Jun Shen

2020Genetics in Medicine97 citationsDOIOpen Access PDF

Topics & Concepts

Exome sequencingPsychosocialMedicineGuidelineIntellectual disabilityQuality of life (healthcare)ExomePopulationPediatricsMEDLINEPsychiatryGeneticsPathologyBiologyNursingEnvironmental healthMutationGeneBiochemistryGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesDown syndrome and intellectual disability research
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability | Litcius