A novel de novo missense variant in ASH1L associated with mild autism spectrum disorder and an uneven cognitive profile: a case report
Journal of Medical Case Reports
What establishes the human disorder?
Open citation, findings, and limits →EVIDENCE LIBRARY
Start with the research question. Then judge the evidence type.
Each of the 50 publications has a paper-specific research question and explanation of its limits. Human, cellular, in-vivo, molecular, extra-neural, and synthesis evidence remain distinct. Open any study to read its findings and limits together.
READING STANDARD
Start with the question each study can answer.
Human studies define association and phenotype. Cellular and in-vivo models test mechanism within a specific perturbation. Molecular studies define protein behavior. Context sources inform methods without becoming direct ASH1L evidence. The downloadable data explains why each source matters for the question being asked.
START WITH THE RESEARCH QUESTION
What are you trying to establish?
Each of the 50 publications is paired with one primary question and one evidence type.
EVIDENCE TYPE
Human clinical & genetic
Novel heterozygous ASH1L nonsense variant involved in mild intellectual disability
Frontiers in Neurology
What establishes the human disorder?
Open citation, findings, and limits →Expansion of the genotypic and phenotypic spectrum of ASH1L-related syndromic neurodevelopmental disorder
Genes
What establishes the human disorder?
Open citation, findings, and limits →EVIDENCE TYPE
Functional genomics & cells
Transcriptomic and phenotypic convergence of neurodevelopmental disorder risk genes in vitro and in vivo
Nature Neuroscience
How does altered ASH1L affect neural systems?
Open citation, findings, and limits →Estradiol modulates neuronal network hyperexcitability in select NDD risk genes
bioRxiv
What perturbation or rescue experiments exist?
Open citation, findings, and limits →Pharmaco-behavioral profiling identifies suppressors of autism gene-associated phenotypes in zebrafish
Proceedings of the National Academy of Sciences
Which sources are context—not direct ASH1L evidence?
Open citation, findings, and limits →High-throughput functional analysis of autism genes in zebrafish identifies convergence in dopaminergic and neuroimmune pathways
Cell Reports
Which sources are context—not direct ASH1L evidence?
Open citation, findings, and limits →Dynamic regulation of the chromatin environment by ASH1L modulates human neuronal structure and function
bioRxiv
What perturbation or rescue experiments exist?
Open citation, findings, and limits →EVIDENCE TYPE
In-vivo neurodevelopmental models
Thalamocortical transcriptional gates coordinate memory stabilization
Nature
How does altered ASH1L affect neural systems?
Open citation, findings, and limits →Mutations in ASH1L cause a neurodevelopmental disorder with sex differences in epilepsy and autism
bioRxiv
How does altered ASH1L affect neural systems?
Open citation, findings, and limits →Ash1l loss-of-function results in structural birth defects and altered cortical development
Brain
How does altered ASH1L affect neural systems?
Open citation, findings, and limits →Chemogenetic inhibition of prefrontal cortex ameliorates autism-like social deficits and absence-like seizures in a gene-trap Ash1l haploinsufficiency mouse model
Genes
What perturbation or rescue experiments exist?
Open citation, findings, and limits →EVIDENCE TYPE
Molecular, biochemical & structural
Structure-function relationship of ASH1L and histone H3K36 and H3K4 methylation
Nature Communications
What does ASH1L do at chromatin?
Open citation, findings, and limits →EVIDENCE TYPE
Extra-neural model systems
The histone methyltransferase ASH1L protects against bone loss by inhibiting osteoclastogenesis
Cell Death & Differentiation
Which extra-neural tissues have direct evidence?
Open citation, findings, and limits →EVIDENCE TYPE
Reviews & synthesis
Molecular and genetic mechanisms in autism spectrum disorder
Annals of Neurology
Which sources are context—not direct ASH1L evidence?
Open citation, findings, and limits →AUTHORITATIVE DATABASES & RESEARCH RESOURCES
Use the live databases for current gene and variant records.
Database records change as laboratories submit evidence and expert panels update curation. Review transcript, condition, classification, review status, submitter, and date together.
GENE-DISEASE & DOSAGEClinGen — ASH1L
Expert-curated validity and dosage sensitivity.
Open ↗EXTERNAL VARIANT SOURCESExternal variant sourcesPublished variant sources, mapped protein positions, source links, and privacy boundaries.
Review →GENE REFERENCENCBI Gene — ASH1LIdentifiers, transcripts, expression, domains, and linked literature.
Open ↗VARIANT ARCHIVEClinVar — ASH1LSubmitted classifications with review status and condition context.
Open ↗AUTISM GENETICSSFARI Gene — ASH1LCurated human genetics and model-system evidence for ASH1L.
Open ↗LIVE LITERATURE SEARCHPubMed — ASH1LThe current indexed publication search beyond this library.
Open ↗FAMILY RESEARCHSimons Searchlight — ASH1LResearch participation and family-facing gene information.
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