[PDF][PDF] Comparative analyses of copy-number variation in autism spectrum disorder and schizophrenia reveal etiological overlap and biological insights

I Kushima, B Aleksic, M Nakatochi, T Shimamura… - Cell reports, 2018 - cell.com
Compelling evidence in Caucasian populations suggests a role for copy-number variations
(CNVs) in autism spectrum disorder (ASD) and schizophrenia (SCZ). We analyzed 1,108 …

Copy-number variants in neurodevelopmental disorders: promises and challenges

AK Merikangas, AP Corvin, L Gallagher - Trends in genetics, 2009 - cell.com
Copy-number variation (CNV) is the most prevalent type of structural variation in the human
genome. There is emerging evidence that copy-number variants (CNVs) provide a new vista …

Genomic copy number variation in disorders of cognitive development

EM Morrow - Journal of the American Academy of Child & …, 2010 - Elsevier
OBJECTIVE: To highlight recent discoveries in the area of genomic copy number variation in
neuropsychiatric disorders including intellectual disability, autism, and schizophrenia. To …

[HTML][HTML] A large data resource of genomic copy number variation across neurodevelopmental disorders

M Zarrei, CL Burton, W Engchuan, EJ Young… - NPJ genomic …, 2019 - nature.com
Copy number variations (CNVs) are implicated across many neurodevelopmental disorders
(NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to …

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders

A Bremer, MB Giacobini, M Eriksson… - American Journal of …, 2011 - Wiley Online Library
Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with a complex
genetic etiology. We used high‐resolution whole genome array‐based comparative …

Detection and characterization of copy number variation in autism spectrum disorder

CR Marshall, SW Scherer - Genomic Structural Variants: Methods and …, 2012 - Springer
There now exist multiple lines of evidence pointing to a significant genetic component
underlying the aetiology of autism spectrum disorders (ASDs). The advent of methodologies …

[HTML][HTML] Association testing of copy number variants in schizophrenia and autism spectrum disorders

BJ Crespi, HJ Crofts - Journal of neurodevelopmental disorders, 2012 - Springer
Background Autism spectrum disorders and schizophrenia have been associated with an
overlapping set of copy number variant loci, but the nature and degree of overlap in copy …

A discovery resource of rare copy number variations in individuals with autism spectrum disorder

A Prasad, D Merico… - G3: Genes …, 2012 - academic.oup.com
The identification of rare inherited and de novo copy number variations (CNVs) in human
subjects has proven a productive approach to highlight risk genes for autism spectrum …

[HTML][HTML] Copy number variation and neuropsychiatric illness

E Rees, G Kirov - Current Opinion in Genetics & Development, 2021 - Elsevier
Copy number variants (CNVs) at specific loci have been identified as important risk factors
for several neuropsychiatric disorders, such as schizophrenia, autism spectrum disorder …

The contribution of copy number variants to psychiatric symptoms and cognitive ability

J Mollon, L Almasy, S Jacquemont, DC Glahn - Molecular psychiatry, 2023 - nature.com
Copy number variants (CNVs) are deletions and duplications of DNA sequence. The most
frequently studied CNVs, which are described in this review, are recurrent CNVs that occur …