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Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Kandamurugu Manickam, Monica R. McClain, Laurie Demmer, Sawona Biswas, Hutton M. Kearney, Jennifer Malinowski, Lauren Massingham, Danny E. Miller, Timothy W. Yu, Fuki M. Hisama

2021Genetics in Medicine630 citationsDOIOpen Access PDF

Topics & Concepts

Medical geneticsGuidelineExome sequencingMedicineExomeGenetic testingIntellectual disabilityHuman geneticsPediatricsFamily medicineGeneticsInternal medicinePathologyPsychiatryBiologyMutationGeneGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesBRCA gene mutations in cancer
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) | Litcius