ORCID Profile
0000-0003-2988-7701
Current Organisations
Boston Children's Hospital
,
Harvard Medical School
,
Broad Institute
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Publisher: Cold Spring Harbor Laboratory
Date: 30-11-2018
DOI: 10.1101/484113
Abstract: We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n=35,584 total s les, 11,986 with ASD). Using an enhanced Bayesian framework to integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate ≤ 0.1. Of these genes, 49 show higher frequencies of disruptive de novo variants in in iduals ascertained for severe neurodevelopmental delay, while 53 show higher frequencies in in iduals ascertained for ASD comparing ASD cases with mutations in these groups reveals phenotypic differences. Expressed early in brain development, most of the risk genes have roles in regulation of gene expression or neuronal communication (i.e., mutations effect neurodevelopmental and neurophysiological changes), and 13 fall within loci recurrently hit by copy number variants. In human cortex single-cell gene expression data, expression of risk genes is enriched in both excitatory and inhibitory neuronal lineages, consistent with multiple paths to an excitatory/inhibitory imbalance underlying ASD.
Publisher: Elsevier BV
Date: 08-2019
Publisher: Springer Science and Business Media LLC
Date: 22-05-2017
Publisher: Elsevier BV
Date: 2013
Publisher: Hindawi Limited
Date: 11-11-2018
DOI: 10.1002/HUMU.23361
Publisher: Springer Science and Business Media LLC
Date: 15-05-2017
DOI: 10.1038/NG.3863
Publisher: Springer Science and Business Media LLC
Date: 29-10-2014
DOI: 10.1038/NATURE13772
Publisher: Springer Science and Business Media LLC
Date: 06-10-2016
DOI: 10.1038/JHG.2016.116
Publisher: Elsevier BV
Date: 09-2019
Publisher: Elsevier BV
Date: 02-2020
Publisher: Elsevier BV
Date: 12-2013
Publisher: Springer Science and Business Media LLC
Date: 11-08-2202
DOI: 10.1038/NG.2711
Location: United States of America
No related grants have been discovered for Timothy Yu.