Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes.

@article{Shaikh2011GenesAB,
  title={Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes.},
  author={Tamim H. Shaikh and Chad R Haldeman-Englert and Elizabeth A. Geiger and Chris P. Ponting and Caleb Webber},
  journal={Human molecular genetics},
  year={2011},
  volume={20 5},
  pages={880-93}
}
Rare copy number variations (CNVs) are a recognized cause of common human disease. Predicting the genetic element(s) within a small CNV whose copy number loss or gain underlies a specific phenotype might be achieved reasonably rapidly for single patients. Identifying the biological processes that are commonly disrupted within a large patient cohort which… CONTINUE READING