Associated Papers
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › TSG
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
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
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
Eisenberger T et al.
Human Mutation, 2014
Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss.
Vona B et al.
Molecular Syndromology, 2014
Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians.
Shen H et al.
Plos One, 2013
23577066 (PubMed )
Supplement: pone.0059494.s008.pdf
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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