A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort

IntroductionThe aetiology of congenital hearing loss is heterogeneous, and in many infants a genetic cause is suspected. Parents face a diagnostic odyssey when searching for a cause of their infant’s hearing loss. Through the Melbourne Genomics Health Alliance, a prospective cohort of infants will b...

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Veröffentlicht in:	BMJ paediatrics open 2017-09, Vol.1 (1), p.e000119-e000119
Hauptverfasser:	Downie, Lilian, Halliday, Jane L, Burt, Rachel A, Lunke, Sebastian, Lynch, Elly, Martyn, Melissa, Poulakis, Zeffie, Gaff, Clara, Sung, Valerie, Wake, Melissa, Hunter, Matthew, Saunders, Kerryn, Rose, Elizabeth, Rehm, Heidi L, Amor, David J
Format:	Artikel
Sprache:	eng
Schlagworte:	Babies Clinical medicine Clinics Ethnicity Etiology Families & family life Genes Genomics Hearing loss Hearing protection Hospitals Medical screening Newborn babies Parents & parenting Pediatrics Population Protocol Socioeconomic factors
Online-Zugang:	Volltext
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