Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Topology of WFS1 Variants Linked With Islet Function and Higher Risk of Urological Symptoms in WFS1-Associated Disease.
Zhang JJ et al.
Pediatric Diabetes, 2025
Genetic analysis of patients with low-frequency non-syndromic hearing loss.
Yu S et al.
Molecular Genetics and Genomics : Mgg, 2024
Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants of WFS1.
Jung J et al.
Journal of Clinical Medicine, 2024
WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Lim HD et al.
Bmc Medical Genomics, 2023
Novel WFS1 mutations in patients with low-to-middle frequency hearing loss.
Guo L et al.
International Journal of Pediatric Otorhinolaryngology, 2023
Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss.
Gan NS et al.
Audiology & Neuro-otology, 2023
Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.
Zhao J et al.
Scientific Reports, 2022
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation.
Rim JH et al.
Human Genetics, 2022
A Novel Missense WFS1 Variant: Expanding the Mutational Spectrum Associated with Nonsyndromic Low-Frequency Sensorineural Hearing Loss.
Ma J et al.
Biomed Research International, 2022
Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.
Li J et al.
Biomed Research International, 2021
WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.
Kobayashi M et al.
Plos One, 2018
Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report.
Choi HJ et al.
Bmc Medical Genetics, 2017
Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.
De Franco E et al.
Diabetes, 2017
Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.
Qian X et al.
Scientific Reports, 2015
Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies.
Bai X et al.
American Journal of Medical Genetics. Part A, 2014
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.
Hildebrand MS et al.
American Journal of Medical Genetics. Part A, 2008
Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese.
Fukuoka H et al.
Journal of Human Genetics, 2007
A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss.
Noguchi Y et al.
Acta Oto-laryngologica, 2005
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
Cryns K et al.
Human Mutation, 2003
Identification of a novel mutation in WFS1 in a family affected by low-frequency hearing impairment.
Kunz J et al.
Mutation Research, 2003
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
Cryns K et al.
Human Genetics, 2002