Cited by 166Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersGenetic Associations and Epidemiology

The Genetics of Autism: Key Issues, Recent Findings, and Clinical Implications

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El-Fishawy, Paul, State, Matthew W.·2010·Psychiatric Clinics of North America

Abstract

Autism spectrum disorders (ASDs) are highly heritable. Gene discovery promises to help illuminate the pathophysiology of these syndromes, yielding opportunities for the development of novel treatments and understanding of their natural history. Although the underlying genetic architecture of ASDs is not yet known, the literature demonstrates that it is not a monogenic disorder with mendelian inheritance, rather a group of complex genetic syndromes with risk deriving from genetic variations in multiple genes. This article reviews the origins of the common versus rare variant debate, highlights recent findings in the field, and addresses the clinical implications of common and rare variant discoveries.

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Crossref · 10.1016/j.psc.2009.12.002

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  1. [49]Wang K Zhang H Ma D Common genetic variants on 5p14. 1 associate with autism spectrum disorders Nature 2009 PMC2943511 19404256
  2. [76]Morrow EM Yoo SY Flavell SW Identifying autism loci and genes by tracing recent shared ancestry Science 2008 321 5886 218 18621663 PMC2586171

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Authors
El-Fishawy, P., & State, M. W.
Affiliations
Yale University (US)
Corresponding author
State, Matthew W.
Venue
Psychiatric Clinics of North America
Publisher
Elsevier BV
Published
2010-03
Volume
33
Issue
1
Pages
83-105
ISSN
0193-953X (ISSN-L)
OpenAlex
W2124263524
Cited by
166
References
101
Citations by year
2026: 2 · 2025: 1 · 2024: 2 · 2023: 7 · 2022: 5 · 2021: 15 · 2020: 6 · 2019: 3 · 2018: 6 · 2017: 12 · 2016: 10 · 2015: 6 · 2014: 12 · 2013: 22 · 2012: 26
FWCI
1.84
Type
journal article
Language
en
Open access
Locations
  • Psychiatric Clinics of North America (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
National Institute of Mental Health (RC2MH089956)
Topics
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords
autism spectrum disorder, genetic architecture, common genetic variants, rare variants, heritability, polygenic risk, treatment development, natural history (disease)
MeSH terms
Abnormalities, Multiple, Alleles, Autistic Disorder, Humans, Karyotyping, Social Behavior, Genetic Variation, Gene Expression, Point Mutation, Genetic Association Studies

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