The DOI matches its Crossref record; 60 of the 61 references it cites were found in a registry or an index.
Linkage-Disequilibrium Mapping of Autistic Disorder, with 15q11-13 Markers
Open accessAbstract
Autistic disorder is a complex genetic disease. Because of previous reports of individuals with autistic disorder with duplications of the Prader-Willi/Angelman syndrome critical region, we screened several markers across the 15q11-13 region, for linkage disequilibrium. One hundred forty families, consisting predominantly of a child with autistic disorder and both parents, were studied. Genotyping was performed by use of multiplex PCR and capillary electrophoresis. Two children were identified who had interstitial chromosome 15 duplications and were excluded from further linkage-disequilibrium analysis. Use of the multiallelic transmission-disequilibrium test (MTDT), for nine loci on 15q11-13, revealed linkage disequilibrium between autistic disorder and a marker in the gamma-aminobutyric acidA receptor subunit gene, GABRB3 155CA-2 (MTDT 28.63, 10 df, P=.0014). No evidence was found for parent-of-origin effects on allelic transmission. The convergence of GABRB3 as a positional and functional candidate along with the linkage-disequilibrium data suggests the need for further investigation of the role of GABRB3 or adjacent genes in autistic disorder.
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In the citing paper
“The behavioral phenotypes associated with 15q11–q13 defects show a parent-of-origin specific effect on phenotypic expression.”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [189]
In the citing paper
“More specifically, it is the maternally derived duplications that convey a high risk of autism (189–191).”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [189]
Citations
Cites
Lord, C., Rutter, M., & Le Couteur, A. (1994) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02172145 · Cited by 9,065
Self-citationSpielman, R. S., McGinnis, R. E., & Ewens, W. J. (1993) · PubMed · Cited by 3,679
Autism as a strongly genetic disorder: evidence from a British twin study
Bailey, A., Le Couteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E., & Rutter, M. (1995) · Psychological Medicine · doi:10.1017/s0033291700028099 · Cited by 2,461
Lord, C., Rutter, M., Goode, S., Heemsbergen, J., Jordan, H., Mawhood, L., & Schopler, E. (1989) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02211841 · Cited by 2,030
Self-citationWisden, W., Laurie, D. J., Monyer, H., & Seeburg, P. (1992) · Journal of Neuroscience · doi:10.1523/jneurosci.12-03-01040.1992 · Cited by 1,543
INFANTILE AUTISM: A GENETIC STUDY OF 21 TWIN PAIRS
Folstein, S., & Rutter, M. (1977) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.1977.tb00443.x · Cited by 1,361 · cited 1×
“Autistic disorder is a complex genetic disease with evidence of high MZ twin concordance, relative to DZ twin concordance (Folstein and Rutter 1977; Ritvo et al. Received December 8, 1997; accepted for publication February 18, 1998; electronically published April 17, 1998.”
BackgroundUBE3A/E6-AP mutations cause Angelman syndrome
Kishino, T., Lalande, M., & Wagstaff, J. E. (1997) · Nature Genetics · doi:10.1038/ng0197-70 · Cited by 1,304
Laurie, D., Wisden, W., & Seeburg, P. (1992) · Journal of Neuroscience · doi:10.1523/jneurosci.12-11-04151.1992 · Cited by 1,144
The TDT and other family-based tests for linkage disequilibrium and association.
(1996) · PubMed Central · Cited by 901
A Twin Study of Autism in Denmark, Finland, Iceland, Norway and Sweden
Steffenburg, S., Gillberg, C., Hellgren, L., Andersson, L., Gillberg, I. C., Jakobsson, G., & Bohman, M. (1989) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.1989.tb00254.x · Cited by 780
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1 of the 61 references couldn’t be matched to a known paper.
Research works printed but not linked: 1
- Pericak-Vance, 1997, Linkage evidence supports the involvement of chromosome 15 in autistic disorder (AUT), Am J Hum Genet, A40
Cited by
Sorted by citations
Identification and Evaluation of Children With Autism Spectrum Disorders
Johnson, C. P., Myers, S. M., & and the Council on Children With Disabilities (2007) · Pediatrics · doi:10.1542/peds.2007-2361 · Cited by 2,011
Advances in autism genetics: on the threshold of a new neurobiology
Abrahams, B. S., & Geschwind, D. H. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2346 · Cited by 1,866
Muhle, R., Trentacoste, S. V., & Rapin, I. (2004) · Pediatrics · doi:10.1542/peds.113.5.e472 · Cited by 1,207
The Screening and Diagnosis of Autistic Spectrum Disorders
Filipek, P. A., Accardo, P., Baranek, G. T., Cook, E. H., Dawson, G., Gordon, B., Gravel, J. S., Johnson, C. P., Kallen, R. J., Levy, S. E., et al. (1999) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1021943802493 · Cited by 1,016
Self-citationAutism and the pervasive developmental disorders
Volkmar, F. R., & Klin, A. (2012) · doi:10.1093/med/9780199696758.003.0214 · Cited by 931
Metadata
- Authors
- Cook, E. H., Courchesne, R. Y., Cox, N. J., Lord, C., Gonen, D., Guter, S. J., Lincoln, A., Nix, K., Haas, R., Leventhal, B. L., & Courchesne, E.
- Affiliations
- University of Chicago (US)
- University of California San Diego (US)
- Corresponding author
- Cook, Edwin H.
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 1998-05
- Volume
- 62
- Issue
- 5
- Pages
- 1077-1083
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1377089
- OpenAlex
- W2159457615
- Cited by
- 369
- References
- 61
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 4 · 2023: 4 · 2022: 6 · 2021: 6 · 2020: 10 · 2019: 3 · 2018: 7 · 2017: 6 · 2016: 6 · 2015: 4 · 2014: 10 · 2013: 19 · 2012: 16
- FWCI
- 14.08
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (5k02mh001389-03, 5r01mh052223-05)
- National Institute of Mental Health (K05 MH01196, R01 MH52223, K05MH001196, 5 K02 MH01389)
- 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 › Genetic Associations and Epidemiology
- Keywords
- autistic disorder, linkage disequilibrium, 15q11-13, GABRB3, GABAA receptor subunits, transmission disequilibrium test, parent-of-origin effects, candidate genes
- MeSH terms
- Autistic Disorder, Child, Chromosome Mapping, Chromosomes, Human, Pair 15, Female, Genetic Markers, Humans, Male, Linkage Disequilibrium
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