Cited by 333Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchGenetic Neurodegenerative Diseases

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Genomics, Intellectual Disability, and Autism

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Mefford, Heather C., Batshaw, Mark L., Hoffman, Eric P.·2012·New England Journal of Medicine

DOI 10.1056/nejmra1114194PMC PMC4107681

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Abstract

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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Next-generation DNA sequencing
Shendure, J., & Ji, H. (2008) · Nature Biotechnology · doi:10.1038/nbt1486 · Cited by 4,509
Global variation in copy number in the human genome
Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., Fiegler, H., Shapero, M. H., Carson, A. R., Chen, W., et al. (2006) · Nature · doi:10.1038/nature05329 · Cited by 4,377
Detection of large-scale variation in the human genome
Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.006 · Cited by 2,882
Strong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795
Large-scale copy number polymorphism in the human genome
Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Månér, S., Massa, H., Walker, M., Chi, M., et al. (2004) · Science · doi:10.1126/science.1098918 · Cited by 2,557
Nucleotide sequence of bacteriophage G4 DNA
Godson, G. N., Barrell, B. G., Staden, R., & Fiddes, J. C. (1978) · Nature · doi:10.1038/276236a0 · Cited by 2,099
Targeted capture and massively parallel sequencing of 12 human exomes
Ng, S. B., Turner, E. H., Robertson, P. D., Flygare, S. D., Bigham, A. W., Lee, C., Shaffer, T., Wong, M., Bhattacharjee, A., Eichler, E. E., et al. (2009) · Nature · doi:10.1038/nature08250 · Cited by 2,030
Functional impact of global rare copy number variation in autism spectrum disorders
Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., et al. (2010) · Nature · doi:10.1038/nature09146 · Cited by 2,013
Exome sequencing identifies the cause of a mendelian disorder
Ng, S. B., Buckingham, K. J., Lee, C., Bigham, A. W., Tabor, H. K., Dent, K. M., Huff, C. D., Shannon, P. T., Jabs, E. W., Nickerson, D. A., et al. (2010) · Nature Genetics · doi:10.1038/ng.499 · Cited by 1,957

Show all 109 references

Research works printed but not linked: 2

Lejeune J, 1959, CR Hebd Seances Acad Sci, 248, 1721
Perez Jurado LA, 1996, Am J Hum Genet, 59, 781

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Simonoff, E. A. (2015) · Wiley eBooks · doi:10.1002/9781118381953.ch54 · Cited by 34
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Authors: Mefford, H. C., Batshaw, M. L., & Hoffman, E. P.
Affiliations: University of Washington (US)
Children's National (US)
ORCID: Mefford, Heather C.
Hoffman, Eric P.
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
DOI: 10.1056/nejmra1114194
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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Genomics, Intellectual Disability, and Autism

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