Associated Papers
Systematic genetic assessment of hearing loss using whole-genome sequencing identifies pathogenic variants.
Kim JA et al.
Experimental & Molecular Medicine, 2025
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 2024
Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants of WFS1.
Jung J et al.
Journal of Clinical Medicine, 2024
Targeted gene panel provides advantages over whole-exome sequencing for diagnosing obesity and diabetes mellitus.
Yu H et al.
Journal of Molecular Cell Biology, 2023
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes.
Li Y et al.
Scientific Reports, 2023
WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Lim HD et al.
Bmc Medical Genomics, 2023
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
Spinal solitary fibrous tumor of the neck: Next-generation sequencing-based analysis of genomic aberrations.
Ando M et al.
Auris, Nasus, Larynx, 2020
Whole‑exome sequencing in Russian children with non‑type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY‑related and unrelated genes.
Glotov OS et al.
Molecular Medicine Reports, 2019
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
Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss.
Chen S et al.
Genetic Testing and Molecular Biomarkers, 2016
Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.
Qian X et al.
Scientific Reports, 2015
Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.
Wei Q et al.
Journal of Translational Medicine, 2014
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
Cryns K et al.
Human Mutation, 2003
Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.
Komatsu K et al.
Journal of Human Genetics, 2002
WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.
Khanim F et al.
Human Mutation, 2001