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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 1
2008 1
2009 2
2010 1
2011 2
2012 2
2013 3
2014 2
2015 8
2016 1
2017 8
2018 6
2019 5
2020 2
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Page 1
Synaptic, transcriptional and chromatin genes disrupted in autism
De Rubeis S, et al. Nature 2014. PMID 25363760 Free PMC article.
These 107 genes, which show unusual evolutionary constraint against mutations, incur de novo loss-of-function mutations in over 5% of autistic subjects. ...
These 107 genes, which show unusual evolutionary constraint against mutations, incur de novo loss-of-function mutations in over 5% of …
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Lim ET, et al. Nat Neurosci 2017. Among authors: De Rubeis S. PMID 28714951 Free PMC article.
We identified 7.5% of de novo mutations as PZMs, 83.3% of which were not described in previous studies. Damaging, nonsynonymous PZMs within critical exons of prenatally expressed genes were more common in ASD probands than controls (P < 1 × 10(-6)), and genes carrying these PZMs were enriched for expression in the amygdala (P = 5.4 × 10(-3)). ...PZMs constitute a significant proportion of de novo mutations and contribute importantly to ASD risk....
We identified 7.5% of de novo mutations as PZMs, 83.3% of which were not described in previous studies. Damaging, nonsynonymous PZMs …
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Wang S, et al. Cell Rep 2018. Among authors: De Rubeis S. PMID 30257206 Free PMC article.
We previously established the contribution of de novo damaging sequence variants to Tourette disorder (TD) through whole-exome sequencing of 511 trios. ...Finally, we identify significant overlap of de novo sequence variants between TD and obsessive-compulsive disorder and de novo copy number variants between TD and autism spectrum disorder, consistent with shared genetic risk....
We previously established the contribution of de novo damaging sequence variants to Tourette disorder (TD) through whole-exome sequen …
Identification of rare de novo epigenetic variations in congenital disorders.
Barbosa M, et al. Nat Commun 2018. Among authors: De Rubeis S. PMID 29802345 Free PMC article.
De novo epivariations are significantly enriched in cases, while RNAseq analysis shows that epivariations often have an impact on gene expression comparable to loss-of-function mutations. ...
De novo epivariations are significantly enriched in cases, while RNAseq analysis shows that epivariations often have an impact on gen
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations
De Rubeis S, et al. Mol Autism 2018. PMID 29719671 Free PMC article.
RESULTS: SHANK3 mutations in our cohort and in previously reported cases were distributed throughout the protein; the majority were truncating and all were compatible with de novo inheritance. Despite substantial allelic heterogeneity, four variants were recurrent (p.Leu1142Valfs*153, p.Ala1227Glyfs*69, p.Arg1255Leufs*25, and c.2265+1G>A), suggesting that these are hotspots for de novo mutations. ...
RESULTS: SHANK3 mutations in our cohort and in previously reported cases were distributed throughout the protein; the majority were truncati …
Prospective investigation of FOXP1 syndrome
Siper PM, et al. Mol Autism 2017. Among authors: De Rubeis S. PMID 29090079 Free PMC article.
RESULTS: We have identified nine de novo mutations, including three frameshift, one nonsense, one mutation in an essential splice site resulting in frameshift and insertion of a premature stop codon, three missense, and one in-frame deletion. ...
RESULTS: We have identified nine de novo mutations, including three frameshift, one nonsense, one mutation in an essential splice sit …
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