The DOI matches its Crossref record; 109 of the 109 references it cites were found in a registry or an index.
Genomics, Intellectual Disability, and Autism
Open accessAbstract
Triplet (trinucleotide) repeat: Sequences of three nucleotides that are repeated in tandem on the same chromosome a number of times.A normal, polymorphic variation in repeat number with no clinical significance commonly occurs between persons; however, repeat numbers over a certain threshold can, in some cases, lead to adverse effects on the function of the gene, resulting in genetic disease.
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“Substantial overlap exists among genes mutated in ASD/SCZ and those associated with intellectual disability (ID)24, 25.”
From Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders (2017) · cites this paper as [25]
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Citations
Cites
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Cited by
Sorted by citations
Diagnostic exome sequencing in persons with severe intellectual disability
de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1206524 · Cited by 1,546
Chromosomal microarray versus karyotyping for prenatal diagnosis
Wapner, R. J., Martin, C. L., Levy, B., Ballif, B. C., Eng, C. M., Zachary, J. M., Savage, M., Platt, L. D., Saltzman, D., Grobman, W. A., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1203382 · Cited by 1,412
Microbial reconstitution reverses maternal diet-induced social and synaptic deficits in offspring
Buffington, S. A., Di Prisco, G. V., Auchtung, T. A., Ajami, N. J., Petrosino, J. F., & Costa-Mattioli, M. (2016) · Cell · doi:10.1016/j.cell.2016.06.001 · Cited by 1,163
Genome sequencing identifies major causes of severe intellectual disability
Gilissen, C., Hehir-Kwa, J. Y., Thung, D. T., van de Vorst, M., van Bon, B. W. M., Willemsen, M. H., Kwint, M., Janssen, I. M., Hoischen, A., Schenck, A., et al. (2014) · Nature · doi:10.1038/nature13394 · Cited by 1,125
Genetic studies in intellectual disability and related disorders
Vissers, L. E. L. M., Gilissen, C., & Veltman, J. A. (2016) · Nature Reviews Genetics · doi:10.1038/nrg3999 · Cited by 761
Metadata
- Authors
- Mefford, H. C., Batshaw, M. L., & Hoffman, E. P.
- Affiliations
- University of Washington (US)
- Children's National (US)
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2012-02-23
- Volume
- 366
- Issue
- 8
- Pages
- 733-743
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC4107681
- OpenAlex
- W2075364461
- Cited by
- 329
- References
- 109
- Citations by year
- 2026: 4 · 2025: 8 · 2024: 15 · 2023: 15 · 2022: 24 · 2021: 25 · 2020: 28 · 2019: 22 · 2018: 20 · 2017: 22 · 2016: 27 · 2015: 28 · 2014: 27 · 2013: 45 · 2012: 19
- FWCI
- 4.70
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (R01NS029525)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- trinucleotide repeat expansion, trinucleotide repeats, intellectual disability, autism spectrum disorder, genetic disorders, genomics
- MeSH terms
- Algorithms, Child, Child Development Disorders, Pervasive, Chromosome Aberrations, Humans, Intellectual Disability, Mutation, Phenotype, Sequence Analysis, DNA, Polymorphism, Single Nucleotide, Genomics, High-Throughput Nucleotide Sequencing
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