Associated Papers
Investigation of Monogenic Diabetes Genes in Thai Children with Autoantibody Negative Diabetes Requiring Insulin.
Teerawattanapong N et al.
Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 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
A novel WFS1 variant associated with isolated congenital cataracts.
Krutish A et al.
Cold Spring Harbor Molecular Case Studies, 2023
Novel Mutations of PAX6 and WFS1 Associated With Congenital Cataract in a Chinese Family.
Sheng D et al.
Cureus, 2023
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Huang Y et al.
Frontiers in Genetics, 2023
Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss.
Gan NS et al.
Audiology & Neuro-otology, 2023
Comprehensive Genetic Analysis Unraveled the Missing Heritability in a Chinese Cohort With Wolfram Syndrome 1: Clinical and Genetic Findings.
Zhang X et al.
Investigative Ophthalmology & Visual Science, 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
Novel mutations associated with autosomal-dominant congenital cataract identified in Chinese families.
Wang Z et al.
Experimental and Therapeutic Medicine, 2019
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.
Rim JH et al.
Scientific Reports, 2019
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
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
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D et al.
Human Mutation, 2017
Identification of rare paired box 3 variant in strabismus by whole exome sequencing.
Gong HM et al.
International Journal of Ophthalmology, 2017
Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.
Qian X et al.
Scientific Reports, 2015
Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans.
Chang MY et al.
Korean Journal of Audiology, 2014
A low-frequency GLIS3 variant associated with resistance to Japanese type 1 diabetes.
Awata T et al.
Biochemical and Biophysical Research Communications, 2013
Combined linkage analysis and exome sequencing identifies novel genes for familial goiter.
Yan J et al.
Journal of Human Genetics, 2013
Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss.
Choi BY et al.
Plos One, 2013
A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.
Tsai HT et al.
Bmc Medical Genetics, 2007
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
Genetic variations in the WFS1 gene in Japanese with type 2 diabetes and bipolar disorder.
Kawamoto T et al.
Molecular Genetics and Metabolism, 2004