Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

PURPOSE: To maximize the discovery of potentially pathogenic variants to better understand the diagnostic utility of genome sequencing (GS) and to assess how the presence of multiple risk events might affect the phenotypic severity in autism spectrum disorders (ASD). METHODS: GS was applied to 180 s...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Genet Med
Hauptverfasser: Guo, Hui, Duyzend, Michael H., Coe, Bradley P., Baker, Carl, Hoekzema, Kendra, Gerdts, Jennifer, Turner, Tychele N., Zody, Michael C., Beighley, Jennifer S., Murali, Shwetha C., Nelson, Bradley J., Bamshad, Michael J., Nickerson, Deborah A., Bernier, Raphael A., Eichler, Evan E.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2018
Schlagworte:
Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6546556/
https://ncbi.nlm.nih.gov/pubmed/30504930
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0380-2
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge