DNA duplication associated with Charcot-Marie-Tooth disease type 1A

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Copy number variation in human health, disease, and evolution

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Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

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Increased App expression in a mouse model of Down’s syndrome disrupts NGF transport and causes cholinergic neuron degeneration

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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

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De novo rates and selection of large copy number variation

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Human Whole-Genome Shotgun Sequencing

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Rare Copy Number Variants<subtitle>A Point of Rarity in Genetic Risk for Bipolar Disorder and Schizophrenia</subtitle><alt-title>Rare Copy Number Variants</alt-title>

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Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

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Peripheral Myelin Protein‐22 is Expressed in Rat and Mouse Brain and Spinal Cord Motoneurons

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Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33

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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

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Current analysis platforms and methods for detecting copy number variation

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New developments in Smith-Magenis syndrome (del 17p11.2)

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Neurogenetics: Advancing the “Next-Generation” of Brain Research

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