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Updated: Mar 6, 2026

Strategies for Assessing Autistic-Like Behaviors in Mice
Published on: September 20, 2024
Autism genetics: opportunities and challenges for clinical translation
Jacob A S Vorstman1, Jeremy R Parr2, Daniel Moreno-De-Luca3
1Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Heidelberglaan 100, 3485 Utrecht, The Netherlands.
Abstract:
Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their risk effects are highly variable, and they are frequently related to other conditions besides autism. However, many different variants converge on common biological pathways. These findings indicate that aetiological heterogeneity, variable penetrance and genetic pleiotropy are pervasive characteristics of autism genetics. Although this advancing insight should improve clinical care, at present there is a substantial discrepancy between research knowledge and its clinical application. In this Review, we discuss the current challenges and opportunities for the translation of autism genetics knowledge into clinical practice.
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