Molecular Psychiatry · 2015 · 58 citations · 26 references
Life SciencesGeneticsMolecular GeneticsAutism Spectrum DisordersHuman GeneticsMedical GeneticsAutism Spectrum Disorder GeneticsCopy Number VariantsCopy Number VariationGenetic DisordersNeurodevelopmental DisordersNeurodevelopmental GeneticsAutism Spectrum Disorder Copy Number VariantsCopy Number Variant ClassificationCopy Number Variant Frequency AnalysisCopy Number Variations In Developmental DisordersFamily-based Copy Number Variant AnalysisNeurodevelopmental Copy Number VariantsPathogenic Copy Number VariantsRare Copy Number Variants
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An integrated map of genetic variation from 1,092 human genomes
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
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
Brian J. O’Roak, Laura Vives, Santhosh Girirajan et al. · Nature · 2012 · 2.2K citations · Full text
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Stephan Sanders, Michael T. Murtha, Abha R. Gupta et al. · Nature · 2012 · 2.2K citations
Origins and functional impact of copy number variation in the human genome
Donald F. Conrad, Dalila Pinto, Richard Redon et al. · Nature · 2009 · 2.1K citations