Technical standards and guidelines: Molecular genetic testing for ultra-rare disorders

Anne Maddalena, Sherri Bale, Soma Das, Wayne Grody, Sue Richards

Research output: Contribution to journalReview articlepeer-review

68 Scopus citations
Original languageEnglish (US)
Pages (from-to)571-583
Number of pages13
JournalGenetics in Medicine
Issue number8
StatePublished - Oct 2005


  • Clinical genetic testing
  • Rare disorders
  • Sequencing
  • Technical standards and guidelines

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this