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
Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia.
Aloi C et al.
Life (basel, Switzerland), 2023
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants
Genetic Spectrum and Characteristics of Hereditary Optic Neuropathy in Taiwan.
Lin CW et al.
Genes, 2021
Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome.
Ren Z et al.
Bmc Endocrine Disorders, 2021
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
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.
La Morgia C et al.
Scientific Reports, 2020
Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.
Qian X et al.
Scientific Reports, 2015
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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