The Emerging Biology of Autism Spectrum Disorders
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Expression patterns of the diverse genes disrupted in autism spectrum disorders in the developing brain give a fresh perspective on the underlying biology.
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Conservative estimates are that 10-20% of people with ASD harbour a de novo rare point mutation or CNV contributing to their presentation.
“Conservative estimates are that 10 -20% of people with ASD harbour a de novo rare point mutation or CNV contributing to their presentation (34, 49,50).”
From Autism spectrum disorder (2020) · cites this paper as [49]
The section labeled Abstract says rare and de novo point mutations and submicroscopic chromosomal variations contribute to a considerable number of ASD cases. It does not give the claimed conservative estimate of 10–20%, so the numerical part is unsupported by our copy. (LLM, conf=0.84)
Experimental — accuracy not yet measuredAlthough the study of ASD risk genes in model systems has revealed a great deal about general biology, how these findings relate to the pathophysiology of ASD is less clear.
“Although the study of ASD risk genes in model systems has revealed a great deal about general biology, how these findings relate to the pathophysiology of ASD is less clear 48,49 .”
From Autism spectrum disorder (2020) · cites this paper as [49]
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Self-citationZhou, X., Lu, J. Y.-F., Darling, R. D., Simpson, K. L., Zhu, X., Wang, F., Yu, L., Sun, X., Merzenich, M. M., & Lin, R. C. S. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1416582111 · Cited by 26 · see citing works
A Foundational Atlas of Autism Protein Interactions Reveals Molecular ConvergencePreprint
Wang, B., Vartak, R. S., Zaltsman, Y., Naing, Z. Z. C., Hennick, K. M., Polacco, B. J., Bashir, A., Eckhardt, M., Bouhaddou, M., Xu, J., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.12.03.569805 · Cited by 25 · see citing works
Self-citationA matter of space and time: Emerging roles of disease-associated proteins in neural development
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Quantifying the social symptoms of autism using motion capture
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Convergence of autism proteins at the ciliumPreprint
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Role of Biomarkers in Medicine
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- Authors
- State, M. W., & Šestan, N.
- Affiliations
- Child Study Center and Departments of Psychiatry
- Yale University (US)
- Venue
- Science
- Published
- 2012-09-14
- Volume
- 337
- Issue
- 6100
- Pages
- 1301-1303
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC3657753
- OpenAlex
- W2094038606
- Cited by
- 164
- References
- 14
- Citations by year
- 2026: 6 · 2025: 4 · 2024: 6 · 2023: 6 · 2022: 7 · 2021: 11 · 2020: 9 · 2019: 14 · 2018: 19 · 2017: 5 · 2016: 21 · 2015: 15 · 2014: 17 · 2013: 23 · 2012: 1
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Institute of Mental Health (RC2MH089956, R01MH081754, P50MH081756, U01MH081896)
- National Institute of Neurological Disorders and Stroke (R01NS054273)
- 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
- autism spectrum disorder, gene expression, brain development, gene disruption
- MeSH terms
- Child Development Disorders, Pervasive, Child, Preschool, Humans, Mutation, Gene Expression Regulation, Developmental, Neocortex, Gene Expression Profiling, Genetic Loci
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
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