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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Hirsch, M. M. (2014) · Americanae (AECID Library)
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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