ArticleEuropean journal of human genetics : EJHG2014
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 2 of them syntheses that pooled it.
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Who cites it
44 citing papers in PubMed, 2 syntheses or guidelines pooled it, 69 citations in OpenAlex.
- Pooled it
- Endosomal system genetics and autism spectrum disorders: A literature review.Neuroscience and biobehavioral reviews · 2016Pooled it
- Characterizing features of the genetic architecture underlying autism from a multi-ancestry perspective.Molecular psychiatry · 2026Article
- CNTN5 Promotes Invasion and Metastasis in Non-Small Cell Lung Cancer by Regulating YAP1 Nuclear Translocation.The journal of gene medicine · 2026Article
- CNTN6 Modulates Slit-Robo Signaling in Cortical GABAergic Interneuron Migration.Neuroscience bulletin · 2026Article
- Role of CNTN6 in neurodevelopment and neuropathology.Frontiers in neuroscience · 2026Review
- Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive Overview.Biomolecules · 2025Review
- Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy.Molecular syndromology · 2023Article
- ICA69 regulates activity-dependent synaptic strengthening and learning and memory.Frontiers in molecular neuroscience · 2023Article
- Genetic Testing in Neurodevelopmental Disorders.Frontiers in pediatrics · 2021Review
- PRMT7 deficiency causes dysregulation of the HCN channels in the CA1 pyramidal cells and impairment of social behaviors.Experimental & molecular medicine · 2020Article
- Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Contactins in the central nervous system: role in health and disease.Neural regeneration research · 2019Review
- Latrophilin's Social Protein Network.Frontiers in neuroscience · 2019Review
- Article
- Recent Advances in the Genetics of Schizophrenia.Molecular neuropsychiatry · 2018Review
- Cntn6 deficiency impairs allocentric navigation in mice.Brain and behavior · 2018Article
- Intragenic Deletions May Involve Enhancer Sequences and AlterMolecular syndromology · 2018Article
- Excessive UBE3A dosage impairs retinoic acid signaling and synaptic plasticity in autism spectrum disorders.Cell research · 2018Article
- Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.Scientific reports · 2017Article
Corrections and comments
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Authors and funding
21 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Copy number variants (CNVs) have repeatedly been found to cause or predispose to autism spectrum disorders (ASDs). For diagnostic purposes, we screened 194 individuals with ASDs for CNVs using Illumina SNP arrays. In several probands, we also analyzed candidate genes located in inherited deletions to unmask autosomal recessive variants. Three CNVs, a de novo triplication of chromosome 15q11-q12 of paternal origin, a deletion on chromosome 9p24 and a de novo 3q29 deletion, were identified as the cause of the disorder in one individual each. An autosomal recessive cause was considered possible in two patients: a homozygous 1p31.1 deletion encompassing PTGER3 and a deletion of the entire DOCK10 gene associated with a rare hemizygous missense variant. We also identified multiple private or recurrent CNVs, the majority of which were inherited from asymptomatic parents. Although highly penetrant CNVs or variants inherited in an autosomal recessive manner were detected in rare cases, our results mainly support the hypothesis that most CNVs contribute to ASDs in association with other CNVs or point variants located elsewhere in the genome. Identification of these genetic interactions in individuals with ASDs constitutes a formidable challenge.
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Registered trials
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