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...

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Bibliographic Details
Published in:Genet Med
Main Authors: 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
Language:Inglês
Published: 2018
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Online Access: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
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