Associated Papers
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.
Zheng Y et al.
Brain : a Journal of Neurology, 2025
39423307 (PubMed )
Supplement: awae324_supplementary_data.zip › brain-2024-01629-File012-v2.xlsx › P_LP_VUS
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
Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations.
Zhu M et al.
European Journal of Endocrinology, 2021
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
García-García G et al.
Genes, 2020
[Incomplete Wolfram syndrome. Clinical case report].
Dianov OA et al.
Problemy Endokrinologii, 2019
The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing.
Wang DD et al.
Frontiers in Genetics, 2019
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
Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype.
Rohayem J et al.
Diabetes Care, 2011
WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.
Yu G et al.
Endocrine, 2010
The novel compound heterozygous mutations, V434del and W666X, in WFS1 gene causing the Wolfram syndrome in a Chinese family.
Hong J et al.
Endocrine, 2009
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