The DOI matches its Crossref record; 77 of the 80 references it cites were found in a registry or an index.
Rethinking the nature of genetic vulnerability to autistic spectrum disorders
Abstract
Autism is a common and genetically heterogeneous disorder, with an estimated heritability of >90%. Its specific underlying causes are largely unknown. Here, I propose that low levels of autistic vulnerability, reflected in social-cognitive processing differences, do not necessarily manifest in a behavioural phenotype but are usually compensated for during development. They are more likely to lead to a recognizable syndrome among individuals of low intelligence, who are male or have independent neurodevelopmental vulnerability owing to a wide range of gene mutations, chromosomal anomalies or environmental insults. Consequently, the apparent association between mental retardation and autistic syndromes is not because they usually have common causes, but rather because the presence of both features greatly increases the probability of clinical ascertainment.
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In the citing paper
“We also found intellectual disability genes to be important in ASD 29 .”
From Functional impact of global rare copy number variation in autism spectrum disorders (2010) · cites this paper as [29]
In the citing paper
“Interestingly, endophenotypes in high-functioning children are mainly seen in their mothers (21).”
From Low load for disruptive mutations in autism genes and their biased transmission (2015) · cites this paper as [21]
Citations
Cites
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Widiger, T. A. (2000) · Oxford University Press eBooks · doi:10.1037/10518-009 · Cited by 19,766
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Strong association of de novo copy number mutations with autism
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Self-citationAutism as a strongly genetic disorder: evidence from a British twin study
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Mapping autism risk loci using genetic linkage and chromosomal rearrangements
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INFANTILE AUTISM: A GENETIC STUDY OF 21 TWIN PAIRS
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Autistic Traits in the General Population: A Twin Study
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Cited by
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Functional impact of global rare copy number variation in autism spectrum disorders
Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., et al. (2010) · Nature · doi:10.1038/nature09146 · Cited by 2,013
Structural Variation of Chromosomes in Autism Spectrum Disorder
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815
Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., Chu, S. H., Moreau, M. P., Gupta, A. R., Thomson, S. A., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.002 · Cited by 1,263
From the genetic architecture to synaptic plasticity in autism spectrum disorder
Bourgeron, T. (2015) · Nature Reviews Neuroscience · doi:10.1038/nrn3992 · Cited by 975
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
Malhotra, D., & Sebat, J. (2012) · Cell · doi:10.1016/j.cell.2012.02.039 · Cited by 854
Metadata
- Authors
- Skuse, D. H.
- Affiliations
- University College London (GB)
- Corresponding author
- Skuse, David H.
- ORCID
- Skuse, David H.
- Venue
- Trends in Genetics
- Publisher
- Elsevier BV
- Published
- 2007-08
- Volume
- 23
- Issue
- 8
- Pages
- 387-395
- ISSN
- 0168-9525 (ISSN-L)
- OpenAlex
- W2025142360
- Cited by
- 147
- References
- 80
- Citations by year
- 2023: 4 · 2022: 7 · 2021: 3 · 2020: 3 · 2019: 5 · 2018: 5 · 2017: 6 · 2016: 4 · 2015: 6 · 2014: 12 · 2013: 11 · 2012: 15
- FWCI
- 1.01
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Trends in Genetics (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- Simons Foundation
- Autism Research Foundation
- Wellcome Trust
- 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 susceptibility, heritability, behavioral phenotypes, developmental compensation, intellectual disability, chromosomal abnormalities, genetic mutations, environmental insults, sex differences
- MeSH terms
- Autistic Disorder, Female, Humans, Male, Intellectual Disability, Phenotype, Twins, Sex Distribution, Heredity
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