Genetics in Medicine · 2011 · 450 citations · 45 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsIntellectual DisabilitiesMedical GeneticsCopy Number Variant AnalysisCopy Number VariantsCopy Number VariationIntellectual Disability GeneticsNeurodevelopmental DisordersNeurodevelopmental GeneticsCopy Number Variant Association StudiesCopy Number Variant ClassificationCopy Number Variant InterpretationCopy Number Variant PathogenicityCopy Number Variant PhenotypesCopy Number Variations In Developmental DisordersIntellectual Disability Copy Number VariantsNeurodevelopmental Copy Number Variants
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Finishing the euchromatic sequence of the human genome
Detection of large-scale variation in the human genome
A. John Iafrate, Lars Feuk, Miguel N. Rivera et al. · Nature Genetics · 2004 · 2.9K citations
Structural Variation of Chromosomes in Autism Spectrum Disorder
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Trends in the Prevalence of Developmental Disabilities in US Children, 1997–2008
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Medicine, Child Health, Pediatrics +16
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Lauren A. Weiss, Yiping Shen, Joshua M. Korn et al. · New England Journal of Medicine · 2008 · 1.7K citations · Full text