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...

Descripción completa

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

Internet

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

Ejemplares similares