Large-scale copy number polymorphism in the human genome

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Genomic DNA Insertions and Deletions Occur Frequently Between Humans and Nonhuman PrimatesPreprint

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Sequencing technologies – the next generation

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A haplotype map of the human genome

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Strong association of de novo copy number mutations with autism

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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

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PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

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Advances in autism genetics: on the threshold of a new neurobiology

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The Diploid Genome Sequence of an Individual Human

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Genome structural variation discovery and genotyping

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Genetic Mapping in Human Disease

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Evolutionary and biomedical insights from the rhesus macaque genome.

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Mechanisms of change in gene copy number

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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism

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Structural Variation in the Human Genome and its Role in Disease

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Mapping copy number variation by population-scale genome sequencing

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Copy number variation in human health, disease, and evolution

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Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome

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Mapping and sequencing of structural variation from eight human genomes

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Human genetic variation and its contribution to complex traits

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Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

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Initial impact of the sequencing of the human genome

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Integrated detection and population-genetic analysis of SNPs and copy number variation

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A copy number variation map of the human genome

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CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

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Synaptic Neurexin Complexes: A Molecular Code for the Logic of Neural Circuits

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Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

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Recurrent 16p11.2 microdeletions in autism

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Microduplications of 16p11.2 are associated with schizophrenia

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Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

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LINE-1 elements in structural variation and disease

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Piercing the dark matter: bioinformatics of long-range sequencing and mapping

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Diagnostic genome profiling in mental retardation

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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

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Characterizing the Major Structural Variant Alleles of the Human Genome

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Array comparative genomic hybridization and its applications in cancer

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Genomic and epigenetic evidence for oxytocin receptor deficiency in autism

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Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders

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Single nucleotide polymorphism arrays: a decade of biological, computational and technological advances

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Reproducible copy number variation patterns among single circulating tumor cells of lung cancer patients

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The genetic architecture of down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

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A genome-wide comparison of recent chimpanzee and human segmental duplications

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The role of de novo mutations in the genetics of autism spectrum disorders

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Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

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Copy number variations and cancer

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Common deletions and SNPs are in linkage disequilibrium in the human genome

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Towards a comprehensive structural variation map of an individual human genome

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Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

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Gene Copy-Number Alterations: A Cost-Benefit Analysis

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Global diversity, population stratification, and selection of human copy-number variation

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Autism: Many Genes, Common Pathways?

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Genetics of Human Social Behavior

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Genomics, Intellectual Disability, and Autism

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Mathematical Analysis of Copy Number Variation in a DNA Sample Using Digital PCR on a Nanofluidic Device

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Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

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Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways †

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