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Nat Rev Genet. 2017 Jun;18(6):362-376. doi: 10.1038/nrg.2017.4. Epub 2017 Mar 6.

Autism genetics: opportunities and challenges for clinical translation.

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Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Heidelberglaan 100, 3485 Utrecht, The Netherlands.
Institute of Neuroscience, University of Newcastle, Newcastle upon Tyne NE1 4LP, UK.
Division of Child and Adolescent Psychiatry, Department of Psychiatry and Human Behavior, Brown University, Providence, Rhode Island 02912, USA.
Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff CF24 4HQ, UK.
Department of Psychiatry, Stark Neurosciences Research Institute, Indiana University School of Medicine.
Department of Medical &Molecular Genetics, Indiana University School of Medicine, 320 West 15th Street, Indianapolis, Indiana 46202, USA.
Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, 401 Quarry Road, Stanford, California 94305, USA.


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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