ArticleBiological psychiatry2020
Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes.
Article in Biological psychiatry, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed, 35 citations in OpenAlex.
- Homozygous CHD8 mutation intensifies ASD phenotypes and attenuates sex differences.Molecular psychiatry · 2026Article
- An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.European journal of human genetics : EJHG · 2026Article
- Offspring genetic diversity regulates rearing experiences that predict differential susceptibility to Chd8 haploinsufficiency.Communications biology · 2026Article
- Conserved sleep disturbances in FOXP1 syndrome originate from developmental dysregulation of peptidergic signaling.The Journal of clinical investigation · 2026Article
- Autism spectrum disorder risk genes have convergent effects on transcription and neuronal firing patterns in primary neurons.Genome research · 2025Article
- Neurobehavioral Signatures in Overgrowth Intellectual Disability Syndromes: Dissecting Genotype-Phenotype Relationships in the PI3K-AKT-MTOR Pathway.medRxiv : the preprint server for health sciences · 2025Article
- Persistent cortical excitatory neuron dysregulation in adultResearch square · 2025Article
- Decoding the genetic landscape of autism: A comprehensive review.World journal of clinical pediatrics · 2024Article
- Autism-associated CHD8 controls reactive gliosis and neuroinflammation via remodeling chromatin in astrocytes.Cell reports · 2024Article
- Molecular and network disruptions in neurodevelopment uncovered by single cell transcriptomics analysis ofHeliyon · 2024Article
- Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.Journal of neurodevelopmental disorders · 2024Article
- Chd8 haploinsufficiency impacts rearing experience in C57BL/6 mice.Genes, brain, and behavior · 2024Article
- Characterizing executive functioning and associated behaviors in individuals with dual-specificity tyrosine phosphorylation-regulated kinase 1A (Frontiers in neuroscience · 2024Article
- Characterizing the autism spectrum phenotype in DYRK1A-related syndrome.Autism research : official journal of the International Society for Autism Research · 2023Article
- Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders.Seminars in neurology · 2023Review
- Article
- Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders.Journal of autism and developmental disorders · 2022Article
- Brief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Disruptive Mutations.Journal of autism and developmental disorders · 2021Article
- Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders.Journal of neurodevelopmental disorders · 2021Review
- The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects.Science advances · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundVariants disruptive to CHD8 (which codes for the protein CHD8 [chromodomain-helicase-DNA-binding protein 8]) are among the most common mutations revealed by exome sequencing in autism spectrum disorder (ASD). Recent work has indicated that CHD8 plays a role in the regulation of other ASD-risk genes. However, it is unclear whether a possible shared genetic ontology extends to the phenotype.
methodsThis study (N = 143; 42.7% female participants) investigated clinical and behavioral features of individuals ascertained for the presence of a known disruptive ASD-risk mutation that is 1) CHD8 (CHD8 group) (n = 15), 2) a gene targeted by CHD8 (target group) (n = 22), or 3) a gene without confirmed evidence of being targeted by CHD8 (other gene group) (n = 106).
resultsResults indicated shared features between the CHD8 and target groups that included less severe adaptive deficits in communication skills, similar functional language, more social motivation challenges in those with ASD, larger head circumference, higher weight, and lower seizure prevalence relative to the other gene group.
conclusionsThese similarities suggest broader genetic ontology accounts for aspects of phenotypic heterogeneity. Improved understanding of the relationships between related disruptive gene events may lead us to improved understanding of shared mechanisms and lead to more focused treatments for individuals with known genetic mutations.
Indexed as
Identifiers
What OpenQuestion holds
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.