Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies

PURPOSE: To determine the diagnostic yield of combined exome sequencing (ES) and autopsy in fetuses/neonates with prenatally identified structural anomalies resulting in termination of pregnancy, intrauterine, neonatal, or early infant death. METHODS: ES was undertaken in 27 proband/parent trios fol...

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Udgivet i:Genet Med
Main Authors: Quinlan-Jones, Elizabeth, Lord, Jenny, Williams, Denise, Hamilton, Sue, Marton, Tamas, Eberhardt, Ruth Y., Rinck, Gabriele, Prigmore, Elena, Keelagher, Rebecca, McMullan, Dominic J., Maher, Eamonn R., Hurles, Matthew E., Kilby, Mark D.
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group US 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6752266/
https://ncbi.nlm.nih.gov/pubmed/30293990
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0298-8
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