ReviewMolecules and cells2025
Advancing precision diagnosis in autism: Insights from large-scale genomic studies.
Review in Molecules and cells, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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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.
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
5 citing papers in PubMed.
- USP15 mutation associated with autism spectrum disorder alters progenitor fate and neuronal maturation in human brain organoids.Molecules and cells · 2026Article
- Molecules and Cells 2025, highlights from molecules to organisms.Molecules and cells · 2026Article
- Tandem repeats in human brain evolution and disease susceptibility.Molecules and cells · 2026Review
- Unraveling mGluR5 dysfunction in autism spectrum disorder: a multi-level analysis of genetic, molecular, and neurobiological mechanisms.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Precision diagnostic and therapeutic interventions in rare genetic neurodevelopmental disorders.Pediatric research · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental condition with a complex genetic basis. Large-scale whole-exome sequencing and whole-genome sequencing studies, with increasing sample sizes and improved ancestral diversity, have significantly advanced the discovery of ASD-associated genes. In addition to identifying coding variants, whole-genome sequencing has facilitated the detection of risk noncoding variants in regulatory elements such as enhancers, promoters, and untranslated regions, prompting experimental validation of their functional impact on neurodevelopment. A deeper understanding of ASD genetic liability has revealed the interplay between rare and common variants. Moreover, genetic liability varies by sex and phenotype profile, underscoring the complexity of ASD's genetic architecture. While the clinical application of these genomic insights remains in early stages, progress has been made in gene-based therapeutic development, the interpretation of noncoding risk variants, and the use of polygenic score for risk stratification. In this review, we summarize key findings from large-scale genomic studies, explore the role of coding and noncoding variants in ASD, and discuss emerging opportunities for translating these discoveries into clinical practice.
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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.