Publications by authors named "Daniel Benjamin Callaghan"
Clin Genet
September 2019
Article Synopsis
- Autism spectrum disorder (ASD) is a complex genetic condition, with known associations primarily to a small set of genes, making it difficult to pinpoint genetic causes in many cases.
- Researchers sequenced the whole genomes of 119 individuals with ASD to identify likely harmful genetic variants, focusing on the predicted impact and existing evidence for each variant.
- The study discovered five new damaging variants and confirmed two novel variants in a well-known ASD gene, SCN2A, enhancing understanding of genetic factors and their link to ASD symptoms.
