Genetic Load of Alternations of Transcription Factor Genes in Non-Syndromic Deafness and the Associated Clinical Phenotypes: Experience from Two Tertiary Referral Centers

Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss

(2022) Dominika Oziębło et al.   HUMAN GENETICS

Natural Course of Residual Hearing with Reference to GJB2 and SLC26A4 Genotypes

(2021) Sang-Yeon Lee et al.   EAR AND HEARING

Potential Implications of Slim Modiolar Electrodes for Severely Malformed Cochleae: A Comparison With the Straight Array With Circumferential Electrodes

(2021) Sang-Yeon Lee et al.   Clinical and Experimental Otorhinolaryngology

X-linked Malformation Deafness

(2021) Henrik Smeds et al.   EAR AND HEARING

Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss

(2021) Sang-Yeon Lee et al.   EXPERIMENTAL AND MOLECULAR MEDICINE

Prevalence and clinical features of hearing loss caused by EYA4 variants

(2020) Jun Shinagawa et al.   Scientific Reports

Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families

(2020) Xiaohui Bai et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants

(2020) Matias Morín et al.   Scientific Reports

Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss

(2020) Tian-Yi Cui et al.   NEURAL PLASTICITY

Inner Ear Gene Therapies Take Off: Current Promises and Future Challenges

(2020) Sedigheh Delmaghani et al.   Journal of Clinical Medicine

Novel genotype–phenotype correlation of functionally characterized LMX1A variants linked to sensorineural hearing loss

(2020) Sang‐Yeon Lee et al.   HUMAN MUTATION

Cochlear Implantation in a Patient with a Novel POU3F4 Mutation and Incomplete Partition Type-III Malformation

(2020) Xiuhua Chao et al.   NEURAL PLASTICITY

Flexible Real-Time Polymerase Chain Reaction-Based Platforms for Detecting Deafness Mutations in Koreans: A Proposed Guideline for the Etiologic Diagnosis of Auditory Neuropathy Spectrum Disorder

(2020) Sang-Yeon Lee et al.   Diagnostics

Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes

(2019) Jeong Hun Jang et al.   Genetic Testing and Molecular Biomarkers

Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation

(2019) Sang-Yeon Lee et al.   Clinical and Experimental Otorhinolaryngology

The Human Transcription Factors

(2018) Samuel A. Lambert et al.   CELL

Cochlear implantation using a custom guide catheter in 14 patients with incomplete partition type III

(2018) H. Tian et al.   CLINICAL OTOLARYNGOLOGY

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

(2018) Mieke Wesdorp et al.   HUMAN GENETICS

A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment

(2018) Isabelle Schrauwen et al.   HUMAN GENETICS

A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family

(2018) Xue Gao et al.   Biomed Research International

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

(2018) Andrea M. Oza et al.   HUMAN MUTATION

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss

(2017) Tomohiro Kitano et al.   PLoS One

A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss

(2017) Yin-Hung Lin et al.   Scientific Reports

Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss

(2016) Xin Zhang Cai et al.   JOURNAL OF HUMAN GENETICS

Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans

(2016) Longxia He et al.   NEURAL PLASTICITY

Establishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing Loss in Koreans

(2016) Kyu-Hee Han et al.   PLoS One

Identification of a novel truncation mutation of EYA4 in moderate degree hearing loss by targeted exome sequencing

(2015) Hyun Seok Choi et al.   EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY

A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness

(2015) Aiping Huang et al.   Journal of Translational Medicine

Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III

(2015) Byung Yoon Choi et al.   LARYNGOSCOPE

Cochlear Implantation in Children with Congenital X-Linked Deafness Due to Novel Mutations in POU3F4 Gene

(2014) Konstantina M. Stankovic et al.   ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY

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

Transcriptional Regulation and Its Misregulation in Disease

(2013) Tong Ihn Lee et al.   CELL

Audiologic Performance After Cochlear Implantation in Children With X-Linked Deafness

(2013) Woo Seok Kang et al.   OTOLOGY & NEUROTOLOGY

Prediction of cochlear implant performance by genetic mutation: The spiral ganglion hypothesis

(2012) Robert W. Eppsteiner et al.   HEARING RESEARCH

Outcome of a universal newborn hearing-screening programme based on multiple transient-evoked otoacoustic emissions and clinical brainstem response audiometry

(2011) Erik Berninger et al.   ACTA OTO-LARYNGOLOGICA

Audiometric Records Analysis in a Clinical Population in China

(2011) Haihong Liu et al.   ORL-Journal for Oto-Rhino-Laryngology Head and Neck Surgery