Genetic Advances in Autism

Anita Thapar*, Michael Rutter

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

65 Citations (Scopus)


Abstract: In the last 40 years, there has been a huge increase in autism genetics research and a rapidly growing number of discoveries. 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 discoveries mean for clinicians.
Original languageEnglish
Number of pages12
JournalJournal of Autism and Developmental Disorders
Issue number12
Early online date17 Sept 2020
Publication statusE-pub ahead of print - 17 Sept 2020


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