The erosion of phenotypic specificity in psychiatric genetics: emerging lessons from CNTNAP2
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Specificity for autism spectrum disorder is a problem for common genetic variation as well as for rare Mendelian variants.
“However, just as specificity for ASD is an issue for rare, Mendelian variants, it is also an issue for common variation [66].”
From Genetics of autism spectrum disorders (2011) · cites this paper as [66]
Cites
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Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
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Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
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Large, rare chromosomal deletions associated with severe early-onset obesity
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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
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Self-citationWhole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
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Self-citationWDR62 is associated with the spindle pole and is mutated in human microcephaly
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Genetics of autism spectrum disorders
Geschwind, D. H. (2011) · Trends in Cognitive Sciences · doi:10.1016/j.tics.2011.07.003 · Cited by 696 · see citing works
Homberg, J. R., Kyzar, E. J., Scattoni, M. L., Norton, W., Pittman, J. T., Gaikwad, S., Nguyen, M., Poudel, M. K., Ullmann, J. F. P., Diamond, D. M., et al. (2016) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2016.04.015 · Cited by 62 · see citing works
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Galea, S. (2011) · Depression and Anxiety · doi:10.1002/da.20868 · Cited by 32 · see citing works
(2016) · Routledge eBooks · doi:10.4324/9781315709529 · Cited by 10 · see citing works
Some thoughts on biolinguistics
Boeckx, C. (2015) · Veritas (Porto Alegre) · doi:10.15448/1984-6746.2015.2.22006 · Cited by 1 · see citing works
- Authors
- State, M. W.
- Affiliations
- Yale University (US)
- Corresponding author
- State, Matthew W.
- ORCID
- State, Matthew W.
- Venue
- Biological Psychiatry
- Publisher
- Elsevier BV
- Published
- 2011-05
- Volume
- 69
- Issue
- 9
- Pages
- 816-817
- ISSN
- 0006-3223 (ISSN-L)
- OpenAlex
- W2082492102
- Cited by
- 6
- References
- 16
- Citations by year
- 2016: 2 · 2015: 1
- FWCI
- 0.60
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Biological Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Social Sciences › Psychology › Experimental and Cognitive Psychology › Anxiety, Depression, Psychometrics, Treatment, Cognitive Processes
- Keywords
- CNTNAP2, selective mutism, social anxiety, adhesion molecules, contactin, autism spectrum disorder, specific language impairment, genetic susceptibility, candidate gene association
- MeSH terms
- Genotype, Humans, Membrane Proteins, Nerve Tissue Proteins, Phenotype, Polymorphism, Genetic, Genetic Association Studies
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