ArticleScientific reports2017
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- The expanding roles of adhesion GPCRs in neural circuit assembly.Molecules and cells · 2026Review
- PScnv: personalized self-normalizing CNV detection with a hierarchical multi-phase framework.Bioinformatics (Oxford, England) · 2026Article
- A Novel Loss of Function Variant inMolecular syndromology · 2025Article
- Optical genome mapping reveals novel structural variations in an autism spectrum disorder cohort.Computational and structural biotechnology journal · 2025Article
- Presynaptic perspective: Axonal transport defects in neurodevelopmental disorders.The Journal of cell biology · 2024Review
- Structural Variations Contribute to the Genetic Etiology of Autism Spectrum Disorder and Language Impairments.International journal of molecular sciences · 2023Article
- Nexus between genome-wide copy number variations and autism spectrum disorder in Northeast Han Chinese population.BMC psychiatry · 2023Article
- LINE-1 and Alu methylation signatures in autism spectrum disorder and their associations with the expression of autism-related genes.Scientific reports · 2022Article
- Two Genetic Mechanisms in Two Siblings with Intellectual Disability, Autism Spectrum Disorder, and Psychosis.Journal of personalized medicine · 2022Article
- Validation of the Chinese Version of the Autism Diagnostic Interview-Revised in Autism Spectrum Disorder.Neuropsychiatric disease and treatment · 2022Article
- Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.Disease markers · 2022Article
- Identification of copy number variants in children and adolescents with autism spectrum disorder: a study from Turkey.Molecular biology reports · 2021Article
- Sex-Specific Stress-Related Behavioral Phenotypes and Central Amygdala Dysfunction in a Mouse Model of 16p11.2 Microdeletion.Biological psychiatry global open science · 2021Article
- Defects in syntabulin-mediated synaptic cargo transport associate with autism-like synaptic dysfunction and social behavioral traits.Molecular psychiatry · 2021Article
- Comparative Analysis for the Performance of Long-Read-Based Structural Variation Detection Pipelines in Tandem Repeat Regions.Frontiers in pharmacology · 2021Article
- Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study.Journal of personalized medicine · 2020Article
- Mechanisms of adhesion G protein-coupled receptor activation.The Journal of biological chemistry · 2020Review
- Breakpoint Mapping of Symptomatic Balanced Translocations Links theJournal of clinical medicine · 2020Article
- A Deep Learning Approach for Missing Data Imputation of Rating Scales Assessing Attention-Deficit Hyperactivity Disorder.Frontiers in psychiatry · 2020Article
- Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders.Molecular genetics & genomic medicine · 2019Observational
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare genomic copy number variations (CNVs) (frequency <1%) contribute a part to the genetic underpinnings of autism spectrum disorders (ASD). The study aimed to understand the scope of rare CNV in Taiwanese patients with ASD. We conducted a genome-wide CNV screening of 335 ASD patients (299 males, 36 females) from Taiwan using Affymetrix Genome-Wide Human SNP Array 6.0 and compared the incidence of rare CNV with that of 1093 control subjects (525 males, 568 females). We found a significantly increased global burden of rare CNVs in the ASD group compared to the controls as a whole or when the rare CNVs were classified by the size and types of CNV. Further analysis confirmed the presence of several rare CNVs at regions strongly associated with ASD as reported in the literature in our sample. Additionally, we detected several new private pathogenic CNVs in our samples and five patients carrying two pathogenic CNVs. Our data indicate that rare genomic CNVs contribute a part to the genetic landscape of our ASD patients. These CNVs are highly heterogeneous, and the clinical interpretation of the pathogenic CNVs of ASD is not straightforward in consideration of the incomplete penetrance, varied expressivity, and individual genetic background.
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