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

PURPOSE: Exome and genome sequencing (ES/GS) are performed frequently in patients with congenital anomalies, developmental delay, or intellectual disability (CA/DD/ID), but the impact of results from ES/GS on clinical management and patient outcomes is not well characterized. A systematic evidence r...

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Detalles Bibliográficos
Autores principales:	Malinowski, Jennifer, Miller, David T., Demmer, Laurie, Gannon, Jennifer, Pereira, Elaine Maria, Schroeder, Molly C., Scheuner, Maren T., Tsai, Anne Chun-Hui, Hickey, Scott E., Shen, Jun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group US 2020
Materias:	ACMG Systematic Evidence Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7222126/ https://www.ncbi.nlm.nih.gov/pubmed/32203227 http://dx.doi.org/10.1038/s41436-020-0771-z

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