The DOI matches its Crossref record; 89 of the 89 references it cites were found in a registry or an index.
Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder
Open accessAbstract
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a strong genetic basis. Yet, only a small fraction of potentially causal genes—about 65 genes out of an estimated several hundred—are known with strong genetic evidence from sequencing studies. We developed a complementary machine-learning approach based on a human brain-specific gene network to present a genome-wide prediction of autism risk genes, including hundreds of candidates for which there is minimal or no prior genetic evidence. Our approach was validated in a large independent case–control sequencing study. Leveraging these genome-wide predictions and the brain-specific network, we demonstrated that the large set of ASD genes converges on a smaller number of key pathways and developmental stages of the brain. Finally, we identified likely pathogenic genes within frequent autism-associated copy-number variants and proposed genes and pathways that are likely mediators of ASD across multiple copy-number variants. All predictions and functional insights are available at http://asd.princeton.edu.
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An Overview of Autism Spectrum Disorder, Heterogeneity and Treatment Options
Masi, A., DeMayo, M. M., Glozier, N., & Guastella, A. J. (2017) · Neuroscience Bulletin · doi:10.1007/s12264-017-0100-y · Cited by 987
Inherited and de novo genetic risk for autism impacts shared networks
Ruzzo, E. K., Pérez-Cano, L., Jung, J.-Y., Wang, L.-K., Kashef-Haghighi, D., Hartl, C., Singh, C., Xu, J., Hoekstra, J. N., Leventhal, O., et al. (2019) · Cell · doi:10.1016/j.cell.2019.07.015 · Cited by 457
The ASD Living Biology: from cell proliferation to clinical phenotype
Courchesne, E., Pramparo, T., Gazestani, V. H., Lombardo, M. V., Pierce, K., & Lewis, N. E. (2019) · Molecular Psychiatry · doi:10.1038/s41380-018-0056-y · Cited by 333
Single-cell transcriptomic analysis of mouse neocortical development
Loo, L., Simon, J. M., Xing, L., McCoy, E. S., Niehaus, J. K., Guo, J., Anton, E. S., & Zylka, M. J. (2019) · Nature Communications · doi:10.1038/s41467-018-08079-9 · Cited by 289
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Feliciano, P., Zhou, X., Astrovskaya, I., Turner, T. N., Wang, T., Brueggeman, L., Barnard, R., Hsieh, A., Snyder, L. G., Muzny, D. M., et al. (2019) · npj Genomic Medicine · doi:10.1038/s41525-019-0093-8 · Cited by 247
Self-citation
Metadata
- Authors
- Krishnan, A., Zhang, R., Yao, V., Theesfeld, C. L., Wong, A. K., Tadych, A., Volfovsky, N., Packer, A., Lash, A., & Troyanskaya, O. G.
- Venue
- Nature Neuroscience
- Published
- 2016-08-01
- Volume
- 19
- Issue
- 11
- Pages
- 1454-1462
- ISSN
- 1097-6256 (ISSN-L)
- 1546-1726
- OpenAlex
- W2484866312
- Cited by
- 438
- References
- 89
- FWCI
- 25.27
- Type
- journal article
- Language
- en
- Open access
- green
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- Krishnan, A., Zhang, R., Yao, V., Theesfeld, C. L., Wong, A. K., Tadych, A., Volfovsky, N., Packer, A., Lash, A., & Troyanskaya, O. G. (2016). Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder. Nature Neuroscience. https://doi.org/10.1038/nn.4353
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