Strong association of de novo copy number mutations with sporadic schizophrenia
By Bin Xu, J. Roos, S. Levy, E. J. van Rensburg, J. Gogos, M. Karayiorgou. Nature Genetics, 2008
866 citations recorded by the source corpus.
Subfields: Genetics, Molecular Biology
View Paper: https://www.semanticscholar.org/paper/29ed5e8460606832889fbefd1b732b73993d2475
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In Genetics
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In Molecular Biology
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Citations in the corpus
- Rare de novo and transmitted copy-number variation in autistic spectrum disorders. (2011, neutral): “Similar findings have been reported for sporadic and inherited schizophrenia (Xu et al., 2008).”
- Heritability in the Era of Molecular Genetics: Some Thoughts for Understanding Genetic Influences on Behavioural Traits (2011, background): “Their involvement is increasingly suspected in major behavioural disorders such as schizophrenia and autism (Sebat et al., 2007; International Schizophrenia Consortium, 2008; Kumar et al., 2008; Morrow et al., 2008; Stefansson et al., 2008; Walsh et al., 2008; Xu et al., 2008).”
- High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. (2009, background): “…in complex disorders such as Autism, ADHD, and schizophrenia as compared to normal controls, highlighting the potential pathogenicity of rare or unique CNVs (Sebat et al. 2007; International Schizophrenia Consortium 2008; Stefansson et al. 2008; Walsh et al. 2008; Xu et al. 2008; Elia et al. 2009).”
- Identifying Relationships among Genomic Disease Regions: Predicting Genes at Pathogenic SNP Associations and Rare Deletions (2009, methodology): “100 kb overlapping at least one gene; a total of 511 genes are deleted or disrupted by these deletions [8,9,10].”
- A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic (2009, background): “Recent studies support the hypothesis that multiple rare mutations, each with a low marginal effect, may be a major player in genetic determination of susceptibility for some complex diseases [3–13].”
- Genetic heterogeneity in human disease. (2010, background): “Compared to controls, individuals with schizophrenia carried significantly more de novo structural mutations (Xu et al., 2008) and more structural mutations at genomic hotspots, including chromosomes 1q21.”