Associated Papers
Leveraging underrepresented population data improves interpretation of genetic variants associated with hearing loss.
Joo SY et al.
Scientific Reports, 2025
41023131 (PubMed )
Supplement: 41598_2025_18852_MOESM1_ESM.pdf
Genetic analysis of patients with low-frequency non-syndromic hearing loss.
Yu S et al.
Molecular Genetics and Genomics : Mgg, 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
Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss.
Gan NS et al.
Audiology & Neuro-otology, 2023
Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome.
Mair H et al.
Ophthalmic Genetics, 2022
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Usami SI et al.
Human Genetics, 2022
34599366 (PubMed )
Supplement: 439_2021_2371_MOESM2_ESM.xlsx › SuppleTable2_20210811_final
A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene.
Lee J et al.
American Journal of Ophthalmology Case Reports, 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
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D et al.
Human Mutation, 2017
28432734 (PubMed )
Supplement: HUMU-38-764-s001.xlsx › Sheet1
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
[Wolfram syndrome: clinical features, molecular genetics of WFS1 gene].
Tanabe K et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2015
Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.
Matsunaga K et al.
Plos One, 2014
Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.
Miyagawa M et al.
Plos One, 2013
23967202 (PubMed )
Supplement: pone.0071381.s004.pdf
[Positional cloning of the gene(WFS1) for Wolfram syndrome].
Tanizawa Y et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology, 2000
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