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2007 3
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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, Grice DE. 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, Grice DE. 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
Obsessive-compulsive disorder
Goodman WK, et al. Psychiatr Clin North Am 2014 - Review. Among authors: Grice DE. PMID 25150561
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Willsey AJ, et al. Neuron 2017. PMID 28472652 Free PMC article.
Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopmental disorders. ...Additionally, de novo damaging variants (LGD and probably damaging missense) are overrepresented in probands (RR 1.37, p = 0.003). ...
Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopm …
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
Sanders SJ, et al. Neuron 2015. Among authors: Grice DE. PMID 26402605 Free PMC article.
Overall, we find strong evidence that de novo mutations are associated with ASD apart from the risk for intellectual disability. Extending the transmission and de novo association test (TADA) to include small de novo deletions reveals 71 ASD risk loci, including 6 CNV regions (noted above) and 65 risk genes (FDR ≤ 0.1)....
Overall, we find strong evidence that de novo mutations are associated with ASD apart from the risk for intellectual disability. Exte …
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Sanders SJ, et al. Neuron 2011. Among authors: Grice DE. PMID 21658581 Free PMC article.
We find significant association of ASD with de novo duplications of 7q11.23, where the reciprocal deletion causes Williams-Beuren syndrome, characterized by a highly social personality. ...Overall, large de novo CNVs, particularly those encompassing multiple genes, confer substantial risks (OR = 5.6; CI = 2.6-12.0, p = 2.4 × 10(-7)). ...
We find significant association of ASD with de novo duplications of 7q11.23, where the reciprocal deletion causes Williams-Beuren syn …
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