Copy number variation disorders
TH Shaikh - Current genetic medicine reports, 2017 - Springer
Abstract Purpose of Review Copy number variation (CNV) disorders arise from the dosage
imbalance of one or more gene (s), resulting from deletions, duplications, or other genomic …
imbalance of one or more gene (s), resulting from deletions, duplications, or other genomic …
Comparing copy number variations in a Danish case cohort of individuals with psychiatric disorders
XC Sánchez, D Helenius, J Bybjerg-Grauholm… - JAMA …, 2022 - jamanetwork.com
Importance Although the association between several recurrent genomic copy number
variants (CNVs) and mental disorders has been studied for more than a decade, unbiased …
variants (CNVs) and mental disorders has been studied for more than a decade, unbiased …
[HTML][HTML] Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia
BACKGROUND: Several large, rare chromosomal copy number variants (CNVs) have
recently been shown to increase risk for schizophrenia and other neuropsychiatric disorders …
recently been shown to increase risk for schizophrenia and other neuropsychiatric disorders …
Human copy number variation and complex genetic disease
S Girirajan, CD Campbell… - Annual review of genetics, 2011 - annualreviews.org
Copy number variants (CNVs) play an important role in human disease and population
diversity. Advancements in technology have allowed for the analysis of CNVs in thousands …
diversity. Advancements in technology have allowed for the analysis of CNVs in thousands …
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia
Copy number variations (CNVs) account for a substantial proportion of human genomic
variation, and have been shown to cause neurodevelopmental disorders. We sought to …
variation, and have been shown to cause neurodevelopmental disorders. We sought to …
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
Rare copy-number variation (CNV) is an important source of risk for autism spectrum
disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of …
disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of …
Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function
Investigators have linked rare copy number variation (CNVs) to neuropsychiatric diseases,
such as schizophrenia. One hypothesis is that CNV events cause disease by affecting genes …
such as schizophrenia. One hypothesis is that CNV events cause disease by affecting genes …
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Copy number variants (CNVs) have been strongly implicated in the genetic etiology of
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk …
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk …
Genomic copy number variations in the autism clinic—work in progress
M Velinov - Frontiers in cellular neuroscience, 2019 - frontiersin.org
The development of advanced technology for microarray-based chromosomal studies
helped discover increased prevalence of genomic copy number variants (CNVs) in …
helped discover increased prevalence of genomic copy number variants (CNVs) in …
Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia
D Grozeva, G Kirov, D Ivanov, IR Jones… - Archives of general …, 2010 - jamanetwork.com
Context Recent studies suggest that copy number variation in the human genome is
extensive and may play an important role in susceptibility to disease, including …
extensive and may play an important role in susceptibility to disease, including …