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Genetic Advances in Autism

Thapar, A.; Rutter, M. Genetic Advances in Autism. Journal of Autism and Developmental Disorders. 2020.


In the last 40 years, there has been a huge increase in autism genetics research and a rapidly growing number of discover- ies. We now know autism is one of the most highly heritable disorders with negligible shared environmental contributions. Recent discoveries also show that rare variants of large effect size as well as small effect common gene variants all contribute to autism risk. These discoveries challenge traditional diagnostic boundaries and highlight huge heterogeneity in autism. In this review, we consider some of the key findings that are shaping current understanding of autism and what these discover- ies mean for clinicians.

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