Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit

Am J Med Genet A. 2018 Jul;176(7):1688-1691. doi: 10.1002/ajmg.a.38838.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Exome Sequencing / methods*
  • Exome*
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / genetics
  • Genetic Testing / methods*
  • Genetic Testing / standards
  • High-Throughput Nucleotide Sequencing / methods*
  • High-Throughput Nucleotide Sequencing / standards
  • Humans
  • Intensive Care Units, Neonatal / standards*
  • Molecular Diagnostic Techniques / methods*
  • Molecular Diagnostic Techniques / standards