ArticleHGG advances2023
Structural variants identified using non-Mendelian inheritance patterns advance the mechanistic understanding of autism spectrum disorder.
Article in HGG advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.
- Neurobiological insights into the effects of ultra-processed food on lipid metabolism and associated mental health conditions: a scoping review.Frontiers in nutrition · 2025Pooled it
- PEGylated Liposomal Resveratrol Induces Region-Specific Redox Modulation Without Behavioral or Neurotrophin Recovery in a VPA Model of Autism.Journal of molecular neuroscience : MN · 2026Article
- Case Report: MECP2 and SH3KBP1 variants associated with autism spectrum disorder and immune dysregulation.Frontiers in immunology · 2026Article
- Genetic and Molecular Determinants of Familial Transmission of Skeletal Malocclusions.Orthodontics & craniofacial research · 2025Review
- Long read whole genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic autism spectrum disorder in India.BMC medical genomics · 2025Article
- Review
- Dysregulation of heterochromatin caused by genomic structural variants may be central to autism spectrum disorder.Frontiers in molecular neuroscience · 2025Article
- Mapping structural variants to rare disease genes using long-read whole genome sequencing and trait-relevant polygenic scores.medRxiv : the preprint server for health sciences · 2024Article
- Genetic etiology of autism spectrum disorder in the African population: a scoping review.Frontiers in genetics · 2024Article
- Impact of IDO activation and alterations in the kynurenine pathway on hyperserotonemia, NADTranslational psychiatry · 2023Article
- A comprehensive lettuce variation map reveals the impact of structural variations in agronomic traits.BMC genomics · 2023Article
- Review
- Hybrid deep learning method to identify key genes in autism spectrum disorder.Healthcare technology lettersArticle
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
The heritability of autism spectrum disorder (ASD), based on 680,000 families and five countries, is estimated to be nearly 80%, yet heritability reported from SNP-based studies are consistently lower, and few significant loci have been identified with genome-wide association studies. This gap in genomic information may reside in rare variants, interaction among variants (epistasis), or cryptic structural variation (SV) and may provide mechanisms that underlie ASD. Here we use a method to identify potential SVs based on non-Mendelian inheritance patterns in pedigrees using parent-child genotypes from ASD families and demonstrate that they are enriched in ASD-risk genes. Most are in non-coding genic space and are over-represented in expression quantitative trait loci, suggesting that they affect gene regulation, which we confirm with their overlap of differentially expressed genes in postmortem brain tissue of ASD individuals. We then identify an SV in the GRIK2 gene that alters RNA splicing and a regulatory region of the
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