Cited by 15Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Erratum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

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O'Roak, Brian J, Deriziotis, Pelagia, Lee, Choli, Vives, Laura, Schwartz, Jerrod J, Girirajan, Santhosh, Karakoc, Emre, MacKenzie, Alexandra P +8 more·2012·Nature Genetics

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Crossref · 10.1038/ng0412-471

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1 of 1 references verified0 citation errors · 0 not checkable

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Claims other papers make about this one

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  • Two of the exome sequencing studies report that spontaneous changes are correlated with paternal age.

    “two of these studies report that spontaneous changes are correlated with paternal age”
  • Three whole-exome sequencing studies report de novo mutations with a twofold to fourfold increase in de novo nonsense variants among affected subjects over that expected by chance.

    “These three studies report de novo mutations with a twofold to fourfold increase in de novo nonsense variants among affected subjects over that expected by chance”
  • Exome sequencing studies suggest that recent results predicting up to 234 loci contributing to ASD risk are probably an underestimation.

    “The exome sequencing studies suggest that the recent results predicting up to 234 loci contributing to ASD risk39 are probably even an underestimation”

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Authors
O'Roak, B. J., Deriziotis, P., Lee, C., Vives, L., Schwartz, J. J., Girirajan, S., Karakoc, E., MacKenzie, A. P., Ng, S. B., Baker, C., Rieder, M. J., Nickerson, D. A., Bernier, R., Fisher, S. E., Shendure, J., & Eichler, E. E.
Venue
Nature Genetics
Published
2012-03-28
Volume
44
Issue
4
Pages
471-471
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W2586323933
Cited by
15
References
1
Citations by year
2024: 1 · 2020: 1 · 2015: 2 · 2014: 4 · 2013: 1 · 2012: 6
Type
journal article
Language
en
Open access
Locations
Nature Genetics (publishedVersion)
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 › Genomics and Rare Diseases
Keywords
autism spectrum disorder, de novo mutations, exome sequencing, CNTNAP2, missense mutations

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