ArticleMolecular psychiatry2015
The phenotypic manifestations of rare genic CNVs in autism spectrum disorder.
Article in Molecular psychiatry, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
21 citing papers in PubMed, 39 citations in OpenAlex.
- Association between Copy Number Variation and Response to Social Skills Training in Autism Spectrum Disorder.Scientific reports · 2019Trial
- Male-Biased Social Deficits in Chd8Neuroscience bulletin · 2026Article
- Does genetic testing impact stigma in autism: A scoping review.Journal of community genetics · 2026Review
- Decoding the genetic landscape of autism: A comprehensive review.World journal of clinical pediatrics · 2024Article
- Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders.Journal of pediatric genetics · 2021Article
- A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.NPJ genomic medicine · 2021Article
- The Role of Copy Number Variations andMolecular syndromology · 2021Article
- A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants.The American journal of psychiatry · 2021Article
- Analysis of a Protein Network Related to Copy Number Variations in Autism Spectrum Disorder.Journal of molecular neuroscience : MN · 2019Article
- Early-Life Stress in D2 Heterozygous Mice Promotes Autistic-like Behaviors through the Downregulation of the BDNF-TrkB Pathway in the Dorsal Striatum.Experimental neurobiology · 2019Article
- Article
- Altered synaptic transmission and maturation of hippocampal CA1 neurons in a mouse model of human chr16p11.2 microdeletion.Journal of neurophysiology · 2018Article
- Copy Number Variations in Amyotrophic Lateral Sclerosis: Piecing the Mosaic Tiles Together through a Systems Biology Approach.Molecular neurobiology · 2018Review
- Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders.Journal of autism and developmental disorders · 2018Article
- The Age of the Father.Molecular syndromology · 2017Article
- Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.Scientific reports · 2016Article
- Neurobiology of social behavior abnormalities in autism and Williams syndrome.Nature neuroscience · 2016Review
- Developmental trajectories as autism phenotypes.American journal of medical genetics. Part C, Seminars in medical genetics · 2015Article
- High-resolution chromosome ideogram representation of currently recognized genes for autism spectrum disorders.International journal of molecular sciences · 2015Article
- Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population.PloS one · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 6 institutions in 3 countries.
Funding
Abstract
Significant evidence exists for the association between copy number variants (CNVs) and Autism Spectrum Disorder (ASD); however, most of this work has focused solely on the diagnosis of ASD. There is limited understanding of the impact of CNVs on the 'sub-phenotypes' of ASD. The objective of this paper is to evaluate associations between CNVs in differentially brain expressed (DBE) genes or genes previously implicated in ASD/intellectual disability (ASD/ID) and specific sub-phenotypes of ASD. The sample consisted of 1590 cases of European ancestry from the Autism Genome Project (AGP) with a diagnosis of an ASD and at least one rare CNV impacting any gene and a core set of phenotypic measures, including symptom severity, language impairments, seizures, gait disturbances, intelligence quotient (IQ) and adaptive function, as well as paternal and maternal age. Classification analyses using a non-parametric recursive partitioning method (random forests) were employed to define sets of phenotypic characteristics that best classify the CNV-defined groups. There was substantial variation in the classification accuracy of the two sets of genes. The best variables for classification were verbal IQ for the ASD/ID genes, paternal age at birth for the DBE genes and adaptive function for de novo CNVs. CNVs in the ASD/ID list were primarily associated with communication and language domains, whereas CNVs in DBE genes were related to broader manifestations of adaptive function. To our knowledge, this is the first study to examine the associations between sub-phenotypes and CNVs genome-wide in ASD. This work highlights the importance of examining the diverse sub-phenotypic manifestations of CNVs in ASD, including the specific features, comorbid conditions and clinical correlates of ASD that comprise underlying characteristics of the disorder.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.