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Publication : Advancing the understanding of autism disease mechanisms through genetics.

First Author  de la Torre-Ubieta L Year  2016
Journal  Nat Med Volume  22
Issue  4 Pages  345-61
PubMed ID  27050589 Mgi Jnum  J:235088
Mgi Id  MGI:5792768 Doi  10.1038/nm.4071
Citation  de la Torre-Ubieta L, et al. (2016) Advancing the understanding of autism disease mechanisms through genetics. Nat Med 22(4):345-61
abstractText  Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has fueled remarkable advances in our understanding of its potential neurobiological mechanisms. Yet, at the same time, these findings highlight extraordinary causal diversity and complexity at many levels ranging from molecules to circuits and emphasize the gaps in our current knowledge. Here we review current understanding of the genetic architecture of ASD and integrate genetic evidence, neuropathology and studies in model systems with how they inform mechanistic models of ASD pathophysiology. Despite the challenges, these advances provide a solid foundation for the development of rational, targeted molecular therapies.
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