De Novo Mutations in Moderate or Severe Intellectual Disability

@article{Hamdan2014DeNM,
  title={De Novo Mutations in Moderate or Severe Intellectual Disability},
  author={Fadi F. Hamdan and Myriam Srour and Jose-Mario Capo-Chichi and Hussein Daoud and Christina Nassif and Lysanne Patry and Christine Massicotte and Amirthagowri Ambalavanan and Dan Spiegelman and Ousmane Diallo and {\'E}douard Henrion and Alexandre Dionne‐Laporte and Anne Fougerat and Alexey V. Pshezhetsky and Sunita Venkateswaran and Guy A. Rouleau and Jacques L. Michaud},
  journal={PLoS Genetics},
  year={2014},
  volume={10}
}
Genetics is believed to have an important role in intellectual disability (ID). Recent studies have emphasized the involvement of de novo mutations (DNMs) in ID but the extent to which they contribute to its pathogenesis and the identity of the corresponding genes remain largely unknown. Here, we report a screen for DNMs in subjects with moderate or severe ID. We sequenced the exomes of 41 probands and their parents, and confirmed 81 DNMs affecting the coding sequence or consensus splice sites… 

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