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Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.

Roxane Van HeurckMaria Teresa Carminho-RodriguesEmmanuelle RanzaCaterina StafuzzaLina QuteinehCorinne GehrigEva HammarMichel GuipponiMarc AbramowiczPascal SennNils GuinandHelene Cao-VanAriane Paoloni-Giacobino
Published in: Genes (2021)
Exome sequencing has a high diagnostic yield in children with hearing loss and can reveal a syndromic hearing loss form before other organs/systems become involved, allowing the surveillance of unrecognized present and/or future complications associated with these syndromes.
Keyphrases
  • hearing loss
  • single cell
  • young adults
  • copy number
  • public health
  • intellectual disability
  • current status
  • risk factors
  • genome wide
  • gene expression
  • dna methylation
  • autism spectrum disorder
  • high throughput sequencing