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Nature Encyclopedia of the Human Genome

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A haplotype map of the human genome

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The Diploid Genome Sequence of an Individual Human

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Genetic Mapping in Human Disease

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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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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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Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders

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

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Characterizing the cancer genome in lung adenocarcinoma

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Human genetic variation and its contribution to complex traits

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American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

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The diploid genome sequence of an Asian individual

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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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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

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Recurrent 16p11.2 microdeletions in autism

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Rare de novo and transmitted copy-number variation in autistic spectrum disorders

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Personalized copy number and segmental duplication maps using next-generation sequencing

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Diversity of Human Copy Number Variation and Multicopy Genes

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Contribution of SHANK3 Mutations to Autism Spectrum Disorder

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Common deletion polymorphisms in the human genome

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De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

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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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Diagnostic genome profiling in mental retardation

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Characterizing the Major Structural Variant Alleles of the Human Genome

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Whole population, genome-wide mapping of hidden relatedness

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Annotating non-coding regions of the genome.

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Somatic activation of AKT3 causes hemispheric developmental brain malformations

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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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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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Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia

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Genetics of Human Social Behavior

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Genomics, Intellectual Disability, and Autism

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SHANK1 Deletions in Males with Autism Spectrum Disorder

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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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Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease

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Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

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Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders

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<i> <scp>TP</scp> 53 </i> mutations in myelodysplastic syndrome are strongly correlated with aberrations of chromosome 5, and correlate with adverse prognosis

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Evolutionary toggling of the MAPT 17q21.31 inversion region

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