Article
Identifying rare genetic variants in 21 highly multiplex autism families: the role of diagnosis and autistic traits.
Molecular psychiatry - 1 May 2023
More Ravi Prabhakar, Warrier Varun, Brunel Helena, Buckingham Clara, Smith Paula, Allison Carrie, Holt Rosemary, Bradshaw Charles R, Baron-Cohen Simon
Abstract excerpt
Autism is a highly heritable, heterogeneous, neurodevelopmental condition. Large-scale genetic studies, predominantly focussing on simplex families and clinical diagnoses of autism have identified hundreds of genes associated with autism. Yet, the contribution of these classes of genes to multiplex families and autistic traits still warrants investigation. Here, we conducted whole-genome sequencing of 21 highly...
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