Association between microdeletion and microduplication at 16p11.2 and autism.

By L. Weiss, Yiping Shen, Joshua M. Korn, Dan E. Arking, David T. Miller, R. Fossdal, E. Saemundsen, Hreinn Stefansson, M. Ferreira, Todd Green and 12 more. New England Journal of Medicine, 2008

1,609 citations recorded by the source corpus.

Subfields: Cognitive Neuroscience, Genetics

View Paper: https://www.semanticscholar.org/paper/074ae73c3213459047b78c62edec0219e1393bae

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Citations in the corpus

Insights about clonal hematopoiesis from 8,342 mosaic chromosomal alterations (2018, background): “2 is one of the strongest known genetic effects on ASDs, occurring most often as a de novo mutation [77].”
Rare de novo and transmitted copy-number variation in autistic spectrum disorders. (2011, positive): “2 copy-number events we observe is consistent with previous studies (Mefford et al., 2009; Pinto et al., 2010; Weiss et al., 2008).”
Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder (2016, background): “2 locus, the most widely studied and one of the most common CNVs linked to autism 45 , may affect RhoA signaling and dynamics of the actin cytoskeleton 46 .”
Detection of sharing by descent, long-range phasing and haplotype imputation (2008, background): “Studying the inheritance of a recurrent deletion Recent studies support the notion that recurrent structural mutations may contribute substantially to the risks of psychiatric disorders such as autis”
Why Are Autism Spectrum Conditions More Prevalent in Males? (2011, background): “A final problem for the X-linked theory is that other large CNV scans have reported no significant findings on the X chromosome [67,73–75].”
The diagnosis of mental disorders: the problem of reification. (2010, background): “2008, Morrow et al. 2008, T. Walsh et al. 2008, Weiss et al. 2008, Xu et al. 2008), perhaps acting against a risk-laden genetic background produced by common variants (Bodmer & Bonilla 2008).”
Whole population, genome-wide mapping of hidden relatedness. (2009, methodology): “This original strategy of detecting polymorphic deletions using a GERMLINEenabled fine-scale map of IBD can therefore complement existing tools for the hotly debated association analysis of microdeletions (Kumar et al. 2008; Weiss et al. 2008).”
Disruptive CHD8 mutations define a subtype of autism early in development (2014, methodology): “Zebrafish (Danio rerio) embryos were raised and maintained as previously described (Westerfield, 1995), and the AB strain was used as wild-type for this study.”