ReviewFrontiers in cellular neuroscience2019
Genomic Copy Number Variations in the Autism Clinic-Work in Progress.
Review in Frontiers in cellular neuroscience, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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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
22 citing papers in PubMed, 41 citations in OpenAlex.
- Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics.International journal of molecular sciences · 2026Review
- Review
- A Framework for Comparison and Interpretation of Machine Learning Classifiers to Predict Autism on the ABIDE Dataset.Human brain mapping · 2025Article
- Review of autism spectrum disorder databases for the identification of candidate genes.Database : the journal of biological databases and curation · 2025Review
- Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations.Genetics research · 2025Article
- Copy number variations in autistic children.Biomedical reports · 2024Article
- A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD.Scientific reports · 2024Article
- Translational bioinformatics and data science for biomarker discovery in mental health: an analytical review.Briefings in bioinformatics · 2024Review
- Review
- Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case-Control Study.Journal of autism and developmental disorders · 2023Article
- Chemogenetic rectification of the inhibitory tone onto hippocampal neurons reverts autistic-like traits and normalizes local expression of estrogen receptors in the Ambra1+/- mouse model of female autism.Translational psychiatry · 2023Article
- Autism under the umbrella of ESSENCE.Frontiers in psychiatry · 2023Article
- Autism and duplication of 17q12q21.2 by array-CGH: a case report.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2023Article
- Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.Disease markers · 2022Article
- isoCNV: in silico optimization of copy number variant detection from targeted or exome sequencing data.BMC bioinformatics · 2021Article
- Review
- Molecular Pathways within Autism Spectrum Disorder Endophenotypes.Journal of molecular neuroscience : MN · 2021Article
- Early differences in auditory processing relate to Autism Spectrum Disorder traits in infants with Neurofibromatosis Type I.Journal of neurodevelopmental disorders · 2021Article
- Autism Spectrum Disorder from the Womb to Adulthood: Suggestions for a Paradigm Shift.Journal of personalized medicine · 2021Review
- Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.Frontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The development of advanced technology for microarray-based chromosomal studies helped discover increased prevalence of genomic copy number variants (CNVs) in individuals with autism spectrum disorder (ASD). Chromosomal microarray analysis (CMA) is now an important tool for clinical investigations in patients with ASD. While this technology helps identify high proportion of CNV positive individuals among patients with autism, the clinical interpretation of such genomic rearrangements is often challenged by inconsistent genotype-phenotype correlations. Possible explanations of such inconsistencies may involve complex interactions of potentially pathogenic CNV with additional (secondary) CNVs or single nucleotide variants (SNVs). Other involved factors may include gender-specific effects or environmental contributions. Development of risk models for interpreting such complex interactions may be necessary in order to provide better informed genetic counseling to the affected families.
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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.