Cited by 827Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersWilliams Syndrome Research

Advancing the understanding of autism disease mechanisms through genetics

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de la Torre-Ubieta, Luis, Won, Hyejung, Stein, Jason L, Geschwind, Daniel H·2016·Nature Medicine

Abstract

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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  1. [91]Pankevich DE Wizemann TM Altevogt BM Improving the Utility and Translation of Animal Models for Nervous System Disorders: Workshop Summary The National Academies Press Washington, D.C 2013 24049852

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Authors
de la Torre-Ubieta, L., Won, H., Stein, J. L., & Geschwind, D. H.
Affiliations
  • University of California, Los Angeles (US)
  • University of North Carolina at Chapel Hill (US)
Corresponding author
Geschwind, Daniel H
Venue
Nature Medicine
Published
2016-04
Volume
22
Issue
4
Pages
345-361
ISSN
  • 1078-8956 (ISSN-L)
  • 1546-170X
OpenAlex
W2316811866
Cited by
827
References
305
Citations by year
2026: 35 · 2025: 61 · 2024: 61 · 2023: 80 · 2022: 86 · 2021: 110 · 2020: 98 · 2019: 102 · 2018: 86 · 2017: 79 · 2016: 26
FWCI
10.26
Type
journal article
Language
en
Open access
Locations
  • Nature Medicine (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
  • Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion)
  • eScholarship (California Digital Library) (submittedVersion)
  • UNC Libraries
Funders
  • California Institute for Regenerative Medicine (TG2-01169)
  • National Institutes of Health (TG2-01169, 5r01mh094714-04, MH060233)
  • National Institute of Mental Health (K99MH102357, 5R01MH094714, R01-MH094714, R00MH102357, R37MH060233)
  • Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California Los Angeles
Topics
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
Keywords
autism spectrum disorder, genetic etiology, genetic architecture, neurobiological mechanisms, ASD pathophysiology, neuropathology, animal models of autism, causal heterogeneity, targeted therapy
MeSH terms
Autism Spectrum Disorder, Animals, Child Development Disorders, Pervasive, Disease Models, Animal, Humans, Genetic Predisposition to Disease, Molecular Targeted Therapy

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