ArticleInternational journal of developmental disabilities2023
Applying whole exome sequencing in a consanguineous population with autism spectrum disorder.
Article in International journal of developmental disabilities, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Association between consanguinity and neurological and developmental disorders in pediatric patients: A retrospective cohort study in Jazan, Saudi Arabia.World journal of clinical pediatrics · 2026Article
- Could a National Screening Program Reduce the Age of Diagnosis of Autism Spectrum Disorder?Journal of autism and developmental disorders · 2026Article
- Childhood-onset ataxia with dystonia: expanding the spectrum of VWA3B-related disorders.Journal of human genetics · 2026Article
- Clinical Phenotypes Associated withSultan Qaboos University medical journal · 2026Article
- Molecular Screening Reveals De Novo Loss-of-FunctionInternational journal of molecular sciences · 2025Article
- Consanguinity as a Risk Factor for Autism.Journal of autism and developmental disorders · 2025Article
- Consanguinity:Sultan Qaboos University medical journal · 2025Article
- Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations.Genetics research · 2025Article
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Authors and funding
13 authors.
Funding
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Abstract
This study aimed to systematically assess the impact of clinical and demographic variables on the diagnostic yield of Whole Exome Sequencing (WES) when applied to children with Autism Spectrum Disorder (ASD) from a consanguineous population. Ninety-seven children were included in the analysis, 63% were male and 37% were females. 77.3% had a suspected syndromic aetiology of which 68% had co-existent central nervous system (CNS) clinical features, while 69% had other systems involved. The diagnostic yield of WES in our cohort with ASD was 34%. Children with seizures were more likely to have positive WES results (46% vs. 31%,
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