Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

Mapping copy number variation by population-scale genome sequencing

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The clinical context of copy number variation in the human genome

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Autozygome decoded

(2010) Fowzan S. Alkuraya   GENETICS IN MEDICINE

A double hit implicates DIAPH3 as an autism risk gene

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Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing

(2010) Hansoo Park et al.   NATURE GENETICS

Diversity of Human Copy Number Variation and Multicopy Genes

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Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

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Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience

(2009) Karen Buysse et al.   European Journal of Medical Genetics

Genetic analysis of human embryos by metaphase comparative genomic hybridization (mCGH) improves efficiency of IVF by increasing embryo implantation rate and reducing multiple pregnancies and spontaneous miscarriages

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A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

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Copy number variation at 1q21.1 associated with neuroblastoma

(2009) Sharon J. Diskin et al.   NATURE

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

(2009) Can Alkan et al.   NATURE GENETICS

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygous deletions of a copy number change detected by array CGH: A new cause for mental retardation?

(2008) Cynthia J. Curry et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2008) Steven A McCarroll et al.   NATURE GENETICS