The American Journal of Human Genetics · 2015 · 85 citations · 29 references
Life SciencesGeneticsMolecular GeneticsGenome EvolutionGenomicsMolecular EvolutionCopy Number AlterationsCopy Number VariantsCopy Number VariationGene DuplicationGenome DuplicationStructural VariationComplex Structural Variant AnalysisComplex Structural VariantsDeletion SignaturesDuplicationsTandem Duplication
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The Genotype-Tissue Expression (GTEx) project.
Synaptic, transcriptional and chromatin genes disrupted in autism
Silvia De Rubeis, Xin He, Arthur P. Goldberg et al. · Nature · 2014 · 2.9K citations · Full text
Strong Association of De Novo Copy Number Mutations with Autism
Jonathan Sebat, B. Lakshmi, Dheeraj Malhotra et al. · Science · 2007 · 2.8K citations · Full text
The contribution of de novo coding mutations to autism spectrum disorder
Ivan Iossifov, Brian J. O’Roak, Stephan Sanders et al. · Nature · 2014 · 2.8K citations · Full text
Functional impact of global rare copy number variation in autism spectrum disorders
Dalila Pinto, Alistair T. Pagnamenta, Lambertus Klei et al. · Nature · 2010 · 2K citations · Full text