Clinical whole exome sequencing in child neurology practice.

@article{Srivastava2014ClinicalWE,
  title={Clinical whole exome sequencing in child neurology practice.},
  author={Siddharth Srivastava and Julie S. Cohen and Hilary J Vernon and Kristin W Bara{\~n}ano and Rebecca McClellan and Leila Jamal and Sakkubai R Naidu and Ali S Fatemi},
  journal={Annals of neurology},
  year={2014},
  volume={76 4},
  pages={473-83}
}
OBJECTIVE Whole exome sequencing (WES) represents a significant breakthrough in clinical genetics as a powerful tool for etiological discovery in neurodevelopmental disorders. To better characterize the genetic landscape of neurodevelopmental disorders, we analyzed patients in our pediatric neurogenetics clinic who underwent WES. METHODS We performed a retrospective cohort study on 78 patients with various neurodevelopmental disabilities and unrevealing workup prior to WES. We characterized… CONTINUE READING
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