ArticleMolecular autism2016
Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.
Article in Molecular autism, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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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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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.Human genomics · 2024Pooled it
- Article
- Should newborn genetic testing for autism be introduced?Journal of medical ethics · 2025Article
- Genome-Wide Association Studies of Delay Discounting and Impulsive Personality Traits in Children From the Adolescent Behavior and Cognitive Development Study.Genes, brain, and behavior · 2025Article
- Investigation of Gait Characteristics and Kinematic Deviations in Rare Genetic Disorders with Instrumented Gait Analysis.Journal of intellectual disability research : JIDR · 2025Article
- Autism Spectrum Disorder Pathogenesis-A Cross-Sectional Literature Review Emphasizing Molecular Aspects.International journal of molecular sciences · 2024Review
- Exploring crystallized and fluid intelligence in down syndrome using graph theory.Scientific reports · 2024Article
- Structural Brain Imaging Biomarkers of Autism Spectrum Disorder.Advances in neurobiology · 2024Review
- Characterizing the clinical and sociodemographic profiles of hospitalized adolescents with autism spectrum disorder.Global mental health (Cambridge, England) · 2024Article
- History of the Task Force for the Korean Clinical Guidelines of the Developmental Disorders.Journal of the Korean Academy of Child and Adolescent Psychiatry · 2024Article
- Differential diagnosis between autism spectrum disorder and other developmental disorders with emphasis on the preschool period.World journal of pediatrics : WJP · 2023Review
- Correlation of mutated gene and signalling pathways in ASD.IBRO neuroscience reports · 2023Review
- Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.European journal of human genetics : EJHG · 2022Article
- Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk.Journal of neurodevelopmental disorders · 2021Article
- Chromatin Remodeling in the Brain-aInternational journal of molecular sciences · 2021Review
- Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism.Journal of human genetics · 2020Article
- Early features of autism spectrum disorder: a cross-sectional study.Italian journal of pediatrics · 2019Article
- Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.Nature communications · 2019Article
- Autism risk genes are evolutionarily ancient and maintain a unique feature landscape that echoes their function.Autism research : official journal of the International Society for Autism Research · 2019Article
- Genetic Causes and Modifiers of Autism Spectrum Disorder.Frontiers in cellular neuroscience · 2019Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundIntellectual disability (ID), autism, and epilepsy share frequent yet variable comorbidities with one another. In order to better understand potential genetic divergence underlying this variable risk, we studied genes responsible for monogenic IDs, grouped according to their autism and epilepsy comorbidities.
methodsUtilizing 465 different forms of ID with known molecular origins, we accessed available genetic databases in conjunction with gene ontology (GO) to determine whether the genetics underlying ID diverge according to its comorbidities with autism and epilepsy and if genes highly penetrant for autism or epilepsy share distinctive features that set them apart from genes that confer comparatively variable or no apparent risk.
resultsThe genetics of ID with autism are relatively enriched in terms associated with nervous system-specific processes and structural morphogenesis. In contrast, we find that ID with highly comorbid epilepsy (HCE) is modestly associated with lipid metabolic processes while ID without autism or epilepsy comorbidity (ID only) is enriched at the Golgi membrane. Highly comorbid autism (HCA) genes, on the other hand, are strongly enriched within the nucleus, are typically involved in regulation of gene expression, and, along with IDs with more variable autism, share strong ties with a core protein-protein interaction (PPI) network integral to basic patterning of the CNS.
conclusionsAccording to GO terminology, autism-related gene products are integral to neural development. While it is difficult to draw firm conclusions regarding IDs unassociated with autism, it is clear that the majority of HCA genes are tightly linked with general dysregulation of gene expression, suggesting that disturbances to the chronology of neural maturation and patterning may be key in conferring susceptibility to autism spectrum conditions.
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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.