Copy-number variations associated with neuropsychiatric conditions

By Edwin H. Cook Jr., Stephen W. Scherer. Nature, 2008

658 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/6ed7621e9ac5cac06cd770bcf5abaac25d389fe7

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In Genetics

In Molecular Biology

Citations in the corpus

A genome-wide scan for common alleles affecting risk for autism (2010, background): “A portion of the genetic roots of autism trace to rare de novo and inherited copy number variants (CNVs), many of which hit genes that encode proteins affecting neuronal development, especially formation of synapses (1).”
Behavioural phenotyping assays for mouse models of autism (2010, background): “Rare variants in candidate genes have been reported, both de novo and familial, as well as copy number variants and epigenetic factor”
A de novo paradigm for mental retardation (2010, background): “In agreement with this hypothesis, de novo copy number variations (CNVs) are a known cause of schizophrenia, autism and mental retardatio”
The Simons Simplex Collection: a resource for identification of autism genetic risk factors. (2010, background): “However, during the same time period, it has become clear that the genetic landscape of autism is complex, with many genes contributing to the broad autism phenotype (Abrahams and Geschwind, 2008; Cook and Scherer, 2008).”
Rare and Common Variants: Twenty arguments (2011, background): “Five per cent of cases of schizophrenia and of autism have each been attributed to CNVs at fewer than half a dozen genomic location”
Genetic heterogeneity in human disease. (2010, background): “Several genomic hotspots have been implicated in more than one psychiatric or neurocognitive phenotype (Cook and Scherer, 2008).”
Common vs. Rare Allele Hypotheses for Complex Diseases (2009, neutral): “However, such studies are in their infancy and have often raised more questions than they have answered, as discussed below in the case of neuropsychiatric disease. www.sciencedirect.com The case of multiple rare singleton deletions and neuropsychiatric disease A number of recent studies have consid”