The Simons Simplex Collection: a resource for identification of autism genetic risk factors
Open accessAbstract
In an effort to identify de novo genetic variants that contribute to the overall risk of autism, the Simons Foundation Autism Research Initiative (SFARI) has gathered a unique sample called the Simons Simplex Collection (SSC). More than 2000 families have been evaluated to date. On average, probands in the current sample exhibit moderate to severe autistic symptoms with relatively little intellectual disability. An interactive database has been created to facilitate correlations between clinical, genetic, and neurobiological data.
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Our participants were mainly high-functioning.
“Firstly, in line with other clinic-based 33 and epidemiological 34 samples, our participants were mainly high-functioning.”
From Testing the construct validity of proposed criteria for DSM-5 autism spectrum disorder (2012) · cites this paper as [33]
The failure of simple models led to recognition that sample sizes beyond any single group were needed to detect generalizable findings.
“The failure of simple models led to widespread acknowledgement of a need for sample sizes that were beyond the reach of any single group to achieve power to detect generalizable findings.”
From Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders (2019) · cites this paper as Fischbach and Lord, 2010
The authors attribute the progress of ASD research in the post-genomics era to transformative sequencing technologies and to large genomic datasets created by NIH and private funders.
“We attribute this success to the arrival of game-changing sequencing technologies and the creation of large genomic datasets via National Institutes of Health and privately funded resources (Fischbach and Lord, 2010; RK et al., 2017; Spark Consortium, 2018).”
From Getting to the cores of autism (2019) · cites this paper as Fischbach and Lord, 2010
The SSC represents a unique, well-described sample of able children and adolescents with relatively severe ASD, as indicated by ADI-R and ADOS Calibrated Severity Scores.
“The SSC thus represents a “unique, well-described sample of able children and adolescents with relatively severe ASD, as indicated by ADI-R and ADOS Calibrated Severity Scores (ADOS-CSS)” [32].”
From Comparison of Fecal Microbiota in Children with Autism Spectrum Disorders and Neurotypical Siblings in the Simons Simplex Collection (2015) · cites this paper as [32]
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Self-citationTransmission Disequilibrium of Small CNVs in Simplex Autism
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Epigenetics of Autism-related Impairment: Copy Number Variation and Maternal Infection
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Social and non-social autism symptoms and trait domains are genetically dissociable
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Intellectual disability is associated with increased runs of homozygosity in simplex autism
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Damaging de novo mutations diminish motor skills in children on the autism spectrum
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The female protective effect in autism spectrum disorder is not mediated by a single genetic locus
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Family-based genome-wide association study of autism spectrum disorder in middle eastern families
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- Authors
- Fischbach, G. D., & Lord, C.
- Affiliations
- Simons Foundation (US)
- University of Michigan (US)
- Corresponding author
- Fischbach, Gerald D.
- ORCID
- Lord, Catherine
- Venue
- Neuron
- Publisher
- Elsevier BV
- Published
- 2010-10
- Volume
- 68
- Issue
- 2
- Pages
- 192-195
- ISSN
- 0896-6273 (ISSN-L)
- OpenAlex
- W2082036307
- Cited by
- 725
- References
- 10
- Citations by year
- 2026: 30 · 2025: 41 · 2024: 48 · 2023: 51 · 2022: 63 · 2021: 61 · 2020: 61 · 2019: 65 · 2018: 52 · 2017: 50 · 2016: 36 · 2015: 45 · 2014: 36 · 2013: 37 · 2012: 30
- FWCI
- 16.63
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Neuron (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Yale University
- Vanderbilt University
- Emory University
- Simons Foundation Autism Research Initiative
- 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 › Genomic variations and chromosomal abnormalities
- Keywords
- Simons Simplex Collection, autism spectrum disorder, genetic risk factors, autism genetics
- MeSH terms
- Autistic Disorder, Data Collection, Family Health, Female, Humans, Male, Phenotype, Risk Factors, Reproducibility of Results, Information Dissemination
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