DSM-5 and Psychiatric Genetics — Round Hole, Meet Square Peg
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Grouping by ASD diagnostic category, IQ, ASD severity, insistence on sameness, and symptom profiles did not significantly increase genetic homogeneity as defined by SNPs and did not yield more discoveries for common variation.
“However, in one recent study, grouping by ASD diagnostic category, IQ, ASD severity, insistence on sameness and symptom profiles did not significantly increase genetic homogeneity, at least as defined by SNPs nor does it yield more discoveries for common variation (104,105).”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [105]
Chromosomal microarray and sequencing studies have found substantial genetic overlap between ASD and other neurodevelopmental and neurological conditions, including intellectual disability, epilepsy, and schizophrenia.
“Chromosomal microarray and sequencing studies have found remarkable genetic overlap between ASD and other neurodevelopmental and neurological conditions, including ID, epilepsy and schizophrenia (92,93).”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [93]
Recent discoveries indicate shared genes and pathways between ASD and congenital heart disease.
“In fact, recent discoveries indicate shared genes and pathways between ASD and congenital heart disease (CHD) (26,93,94).”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [93]
Cites
Synaptic, transcriptional and chromatin genes disrupted in autism
Study, T. D., De Rubeis, S., Autism, H. M. C. F., UK10K Consortium, The Autism Sequencing Consortium, He, X., Goldberg, A. P., Poultney, C. S., Samocha, K., Ercument Cicek, A., et al. (2014) · Nature · doi:10.1038/nature13772 · Cited by 2,746 · see citing works
Self-citationThe contribution of de novo coding mutations to autism spectrum disorder
Iossifov, I., O’Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., Stessman, H. A., Witherspoon, K. T., Vives, L., Patterson, K. E., et al. (2014) · Nature · doi:10.1038/nature13908 · Cited by 2,585 · see citing works
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
The Autism Genome Project Consortium (2007) · Nature Genetics · doi:10.1038/ng1985 · Cited by 1,402 · see citing works
Most genetic risk for autism resides with common variation
Gaugler, T., Klei, L., Sanders, S. J., Bodea, C. A., Goldberg, A. P., Lee, A. B., Mahajan, M., Manaa, D., Pawitan, Y., Reichert, J., et al. (2014) · Nature Genetics · doi:10.1038/ng.3039 · Cited by 1,239 · see citing works
Self-citationDe novo mutations in histone-modifying genes in congenital heart disease
Zaidi, S., Choi, M., Wakimoto, H., Ma, L., Jiang, J., Overton, J. D., Romano-Adesman, A., Bjornson, R. D., Breitbart, R. E., Brown, K. K., et al. (2013) · Nature · doi:10.1038/nature12141 · Cited by 934 · see citing works
Gillberg, C. (2010) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2010.06.002 · Cited by 742 · see citing works
Whole-genome sequencing of quartet families with autism spectrum disorder
Yuen, R. K. C., Thiruvahindrapuram, B., Merico, D., Walker, S., Tammimies, K., Hoang, N., Chrysler, C., Nalpathamkalam, T., Pellecchia, G., Liu, Y., et al. (2015) · Nature Medicine · doi:10.1038/nm.3792 · Cited by 514 · see citing works
Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence
Moreno-De-Luca, A., Myers, S. M., Challman, T. D., Moreno-De-Luca, D., Evans, D. W., & Ledbetter, D. H. (2013) · The Lancet Neurology · doi:10.1016/s1474-4422(13)70011-5 · Cited by 330 · see citing works
Buxbaum, J. D., Daly, M. J., Devlin, B., Lehner, T., Roeder, K., & State, M. W. (2012) · Neuron · doi:10.1016/j.neuron.2012.12.008 · Cited by 185 · see citing works
Self-citationChaste, P., Klei, L., Sanders, S. J., Hus, V., Murtha, M. T., Lowe, J. K., Willsey, A. J., Moreno-De-Luca, D., Yu, T. W., Fombonne, E., et al. (2015) · Biological Psychiatry · doi:10.1016/j.biopsych.2014.09.017 · Cited by 144 · see citing works
Flagged first, then by citations
- Authors
- Buxbaum, J. D.
- Affiliations
- Icahn School of Medicine at Mount Sinai (US)
- Corresponding author
- Buxbaum, Joseph D.
- ORCID
- Buxbaum, Joseph D.
- Venue
- Biological Psychiatry
- Publisher
- Elsevier BV
- Published
- 2015-05
- Volume
- 77
- Issue
- 9
- Pages
- 766-768
- ISSN
- 0006-3223 (ISSN-L)
- OpenAlex
- W2084743042
- Cited by
- 9
- References
- 10
- Citations by year
- 2019: 1 · 2018: 1 · 2017: 4 · 2016: 2 · 2015: 1
- FWCI
- 1.60
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Biological Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Mental Health (MH097849, MH100233)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- DSM-5, psychiatric genetics, neurodevelopmental disorders, autism spectrum disorder, common genetic variants, rare variants, single nucleotide polymorphisms, phenotypic heterogeneity, genetic homogeneity, genetic risk factors, subphenotyping, effect size, purifying selection
- MeSH terms
- Autism Spectrum Disorder, Autistic Disorder, Female, Humans, Male, Phenotype
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