Genetic studies in intellectual disability and related disorders
Top Cited Papers
- 27 October 2015
- journal article
- review article
- Published by Springer Science and Business Media LLC in Nature Reviews Genetics
- Vol. 17 (1), 9-18
- https://doi.org/10.1038/nrg3999
Abstract
Genetic factors play a major part in intellectual disability (ID), but genetic studies have been complicated for a long time by the extreme clinical and genetic heterogeneity. Recently, progress has been made using different next-generation sequencing approaches in combination with new functional readout systems. This approach has provided novel insights into the biological pathways underlying ID, improved the diagnostic process and offered new targets for therapy. In this Review, we highlight the insights obtained from recent studies on the role of genetics in ID and its impact on diagnosis, prognosis and therapy. We also discuss the future directions of genetics research for ID and related neurodevelopmental disorders.Keywords
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