Associated Papers
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss.
Talebi F et al.
Cell Journal, 2018
A genotypic ascertainment approach to refute the association of MYO1A variants with non-syndromic deafness.
Patton J et al.
European Journal of Human Genetics : Ejhg, 2016
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
Eisenberger T et al.
Human Mutation, 2014
Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss.
Donaudy F et al.
American Journal of Human Genetics, 2003
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