A critical review of the impact of candidate copy number variants on autism spectrum disorders

SS Abedini, S Akhavan, J Heng, R Alizadehsani… - arXiv preprint arXiv …, 2023 - arxiv.org
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder (NDD)
that is caused by genetic, epigenetic, and environmental factors. Recent advances in …

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways

AJ Griswold, D Ma, HN Cukier… - Human molecular …, 2012 - academic.oup.com
Autism spectrum disorders (ASDs) are highly heritable, yet relatively few associated genetic
loci have been replicated. Copy number variations (CNVs) have been implicated in autism; …

[HTML][HTML] Genetics of autism spectrum disorder: an update on copy number variations leading to autism in the next generation sequencing era

M AlSagob, D Colak, N Kaya - Discovery medicine, 2015 - discoverymedicine.com
Autism spectrum disorder (ASD) is a large group of neurodevelopmental conditions that
share common characteristics such as social and language impairment and repetitive and …

Copy number variations independently induce autism spectrum disorder

X Yingjun, Y Haiming, W Mingbang… - Bioscience …, 2017 - portlandpress.com
The examination of copy number variation (CNV) is critical to understand the etiology of the
CNV-related autism spectrum disorders (ASD). DNA samples were obtained from 64 ASD …

Copy number variants in autism spectrum disorders

S Vicari, E Napoli, V Cordeddu, D Menghini… - Progress in Neuro …, 2019 - Elsevier
In recent years, there has been an explosive increase in genetic studies related to autism
spectrum disorder (ASD). This implicated the accumulation of a large amount of molecular …

[HTML][HTML] Identification of candidate intergenic risk loci in autism spectrum disorder

S Walker, SW Scherer - BMC genomics, 2013 - Springer
Abstract Background Copy number variations (CNVs) and DNA sequence alterations
affecting specific neuronal genes are established risk factors for Autism Spectrum Disorder …

[HTML][HTML] Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders

R Luo, SJ Sanders, Y Tian, I Voineagu, N Huang… - The American Journal of …, 2012 - cell.com
Copy-number variants (CNVs) are a major contributor to the pathophysiology of autism
spectrum disorders (ASDs), but the functional impact of CNVs remains largely unexplored …

Association of copy number variations in autism spectrum disorders: a systematic review

EF Sener - Chinese Journal of Biology, 2014 - Wiley Online Library
Autism spectrum disorders (ASDs) are characterized by language impairments, social
deficits, and repetitive behaviors. The onset of symptoms occurs by the age of 3 and shows a …

[HTML][HTML] Prioritization of copy number variation loci associated with autism from AutDB–an integrative multi-study genetic database

I Menashe, EC Larsen, S Banerjee-Basu - PLoS One, 2013 - journals.plos.org
Copy number variants (CNVs) are thought to play an important role in the predisposition to
autism spectrum disorder (ASD). However, their relatively low frequency and widespread …

Molecular pathways within autism spectrum disorder endophenotypes

S Briuglia, M Calabrò, AP Capra, S Briguori… - Journal of Molecular …, 2021 - Springer
Autism spectrum disorder (ASD) is a condition that includes a number of
neurodevelopmental mental disorders. Recent genetic/genomic investigations have …