Associated Papers
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs
Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss.
Talebi F et al.
Cell Journal, 2018
Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage.
Dale B et al.
Npj Genomic Medicine, 2017
29263838 (PubMed )
Supplement: 41525_2017_31_MOESM3_ESM.xlsx › Sheet1
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
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC9_ERR166333
Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.
Vona B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays.
Drmanac R et al.
Science (new York, N.y.), 2010
19892942 (PubMed )
Supplement: drmanac_som.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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