Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes

@article{Justino2014ComprehensiveMP,
  title={Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes},
  author={Ana Justino and Patr{\'i}cia Dias and Maria Jo{\~a}o Pina and S{\'o}nia Passos Sousa and Lu{\'i}s Cirnes and Ana Berta Sousa and Jos{\'e} Carlos Machado and Jos{\'e} Lu{\'i}s Costa},
  journal={European Journal of Human Genetics},
  year={2014},
  volume={23},
  pages={347-353},
  url={https://api.semanticscholar.org/CorpusID:23296522}
}
The presented workflow provides a comprehensive genetic screening strategy for patients with NCFCS in a fast and cost-efficient manner and demonstrates the potential of a combined MPS–Sanger sequencing-based strategy as an effective diagnostic tool for heterogeneous diseases.
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