A Novel Nonsense Mutation ofPOU4F3Gene Causes Autosomal Dominant Hearing Loss

GJB2, SLC26A4, and mitochondrialDNA12S rRNAhot-spots in 156 subjects with non-syndromic hearing loss in Tengzhou, China

(2016) Yalin Ma et al.   ACTA OTO-LARYNGOLOGICA

Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay

(2016) Fengguo Zhang et al.   Biomed Research International

Transcription Factors Expressed in Mouse Cochlear Inner and Outer Hair Cells

(2016) Yi Li et al.   PLoS One

Gene Expression by Mouse Inner Ear Hair Cells during Development

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Identification of a novel missense mutation in theWFS1gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies

(2014) Xiaohui Bai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss

(2014) Érika L. Freitas et al.   European Journal of Medical Genetics

Characterization of Transcriptomes of Cochlear Inner and Outer Hair Cells

(2014) H. Liu et al.   JOURNAL OF NEUROSCIENCE

Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss

(2014) Qinjun Wei et al.   Journal of Translational Medicine

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Regulation of the Orphan Nuclear Receptor Nr2f2 by the DFNA15 Deafness Gene Pou4f3

(2014) Chrysostomos Tornari et al.   PLoS One

Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing

(2013) Tao Yang et al.   Orphanet Journal of Rare Diseases

SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel POU4F3 Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15)

(2013) Hee-Jin Kim et al.   PLoS One

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families

(2012) Jeong-In Baek et al.   Orphanet Journal of Rare Diseases

A novel frameshift mutation of POU4F3 gene associated with autosomal dominant non-syndromic hearing loss

(2010) Hee Keun Lee et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Vestibular Impairment in a Dutch DFNA15 Family with an L289F Mutation in POU4F3

(2009) F.J. Wendy van Drunen et al.   AUDIOLOGY AND NEURO-OTOLOGY

Audiometric Characteristics of a Dutch Family Linked to DFNA15 With a Novel Mutation (p.L289F) in POU4F3

(2008) Robert J. Pauw et al.   ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

Missense mutations inPOU4F3cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding

(2008) Rob W.J. Collin et al.   HUMAN MUTATION