ArticleGenome research2015
The discovery of integrated gene networks for autism and related disorders.
Article in Genome research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 148 papers, 2 of them syntheses 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
148 citing papers in PubMed, 2 syntheses or guidelines pooled it, 267 citations in OpenAlex.
- Peripheral Blood Monocytes as Biomarkers of Neurodevelopmental Disorders: A Systematic Review and Meta-Analysis.Research on child and adolescent psychopathology · 2025Pooled it
- Genetic Influences on the Developing Young Brain and Risk for Neuropsychiatric Disorders.Biological psychiatry · 2023Pooled it
- The Role of the Immunoglobulin Superfamily of Cell Adhesion Molecules in Intellectual Disability.Cells · 2026Review
- Development of a human iPSC and patient phenotyping resource for preclinical investigations of neurodevelopmental disorders.Stem cell research · 2026Article
- Editorial: Genetics and mechanisms of neurodevelopmental disorders.Frontiers in human neuroscience · 2026Article
- Molecular interactions of Chd8 in mouse brain highlights a role in chromatin-associated RNA processing.bioRxiv : the preprint server for biology · 2025Article
- The role of machine learning in autism spectrum disorder assessment and management.Pediatric research · 2025Review
- The relationship between neurodevelopmental disorders (NDDs) and NLRP3 inflammasome.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2025Review
- Deep Phenotyping of the Broader Autism Phenotype in Epilepsy: A Transdiagnostic Marker of Epilepsy and Autism Spectrum Disorder.Annals of the Child Neurology Society · 2025Article
- Characterization of Dystrophin Dp71 Expression and Interaction Partners in Embryonic Brain Development: Implications for Duchenne/Becker Muscular Dystrophy.Molecular neurobiology · 2025Article
- mAutism research : official journal of the International Society for Autism Research · 2025Article
- Article
- Inhibition of GSK3α,β rescues cognitive phenotypes in a preclinical mouse model of CTNNB1 syndrome.EMBO molecular medicine · 2024Article
- Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis.The American journal of case reports · 2024Article
- Transcriptome Study in Sicilian Patients with Autism Spectrum Disorder.Biomedicines · 2024Article
- Article
- Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology.Molecular psychiatry · 2024Article
- Identification of gene biomarkers for brain diseases via multi-network topological semantics extraction and graph convolutional network.BMC genomics · 2024Article
- Translational bioinformatics and data science for biomarker discovery in mental health: an analytical review.Briefings in bioinformatics · 2024Review
- Correlation of mutated gene and signalling pathways in ASD.IBRO neuroscience reports · 2023Review
88 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Despite considerable genetic heterogeneity underlying neurodevelopmental diseases, there is compelling evidence that many disease genes will map to a much smaller number of biological subnetworks. We developed a computational method, termed MAGI (merging affected genes into integrated networks), that simultaneously integrates protein-protein interactions and RNA-seq expression profiles during brain development to discover "modules" enriched for de novo mutations in probands. We applied this method to recent exome sequencing of 1116 patients with autism and intellectual disability, discovering two distinct modules that differ in their properties and associated phenotypes. The first module consists of 80 genes associated with Wnt, Notch, SWI/SNF, and NCOR complexes and shows the highest expression early during embryonic development (8-16 post-conception weeks [pcw]). The second module consists of 24 genes associated with synaptic function, including long-term potentiation and calcium signaling with higher levels of postnatal expression. Patients with de novo mutations in these modules are more significantly intellectually impaired and carry more severe missense mutations when compared to probands with de novo mutations outside of these modules. We used our approach to define subsets of the network associated with higher functioning autism as well as greater severity with respect to IQ. Finally, we applied MAGI independently to epilepsy and schizophrenia exome sequencing cohorts and found significant overlap as well as expansion of these modules, suggesting a core set of integrated neurodevelopmental networks common to seemingly diverse human diseases.
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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.