Associated Papers
Characterization of Novel WFS1 Variants in Three Diabetes Pedigrees.
Liu C et al.
Journal of Diabetes, 2025
Diabetes Insipidus as an Early Clinical Indicator of Wolfram Syndrome Type 1: Evidence From a Symptom-Based Screening Approach.
Gundogdu Ogutlu OB et al.
Pediatric Diabetes, 2025
High Frequency of Recessive WFS1 Mutations Among Indian Children With Islet Antibody-negative Type 1 Diabetes.
Menon JC et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1
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
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.
Patel KA et al.
Diabetologia, 2022
34686905 (PubMed )
Supplement: 125_2021_5597_MOESM1_ESM.pdf
Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis
Sherif M et al.
Journal of Clinical Research in Pediatric Endocrinology, 2021
The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing.
Wang DD et al.
Frontiers in Genetics, 2019
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.
Bansal V et al.
Bmc Medicine, 2017
29207974 (PubMed )
Supplement: 12916_2017_977_MOESM1_ESM.pdf
Association of Wolfram syndrome with Fallot tetralogy in a girl.
Korkmaz HA et al.
Archivos Argentinos De Pediatria, 2016
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
Cryns K et al.
Human Mutation, 2003
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