Associated Papers
Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss.
Talebi F et al.
Cell Journal, 2018
Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss.
Runge CL et al.
Jama Otolaryngology-- Head & Neck Surgery, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s5.xls › VaribenchSelectedPure
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
Human deafness mutation E385D disrupts the mechanochemical coupling and subcellular targeting of myosin-1a.
Yengo CM et al.
Biophysical Journal, 2008
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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