ArticleJournal of medical genetics2025
Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study.
Article in Journal of medical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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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
5 citing papers in PubMed.
- Characterizing features of the genetic architecture underlying autism from a multi-ancestry perspective.Molecular psychiatry · 2026Article
- Prevalence of Phelan McDermid Syndrome Estimated To Be ~1:7300 Using a Multisource Model.Autism research : official journal of the International Society for Autism Research · 2026Article
- Autism Information Progression and the Impact of Misinformation on Autism Knowledge, Awareness and Stigmatization.Behavioral sciences (Basel, Switzerland) · 2026Article
- Genetic variants identification through whole-genome sequencing based on dried blood spots in 92 Chinese children with Autism.Human genomics · 2026Article
- Update on pharmacogenomic approaches in the treatment of autism spectrum disorders.Psychopharmacology · 2026Review
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
backgroundGenetics is an important contributor to autism spectrum disorder (ASD). Clinical guidelines endorse genetic testing in the medical workup of ASD, particularly tests that use whole genome sequencing (WGS) technology. While the clinical utility of genetic testing in ASD is demonstrated, the breadth of impact of results can depend on the variant and/or gene being reported.
methodsWe reviewed research results returned to families enrolled in our ASD WGS study between 2012 and 2023. For significant results, we grouped the outcome of each genetic finding into three outcome categories: (1) genetic diagnosis, (2) counselling benefits and (3) support to family.
resultsOut of 202 families who received genome sequencing results, 100 had at least one clinically relevant finding related to ASD. With detailed examples, we show that all significant results led to a genetic diagnosis and counselling benefits.
conclusionOur findings show the relevance of genome sequencing in ASD and provide illustrative examples of how the information can be used.
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Registered trials
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