Associated Papers
Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)-A European cohort perspective.
Rohayem J et al.
Andrology, 2026
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
41615371 (PubMed )
Supplement: iovs-67-1-62_s003.xlsx › Supplementary_table_2
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
Insights from a Wolfram syndrome cohort: clinical and molecular findings from a specialized diabetes reference center.
Lopes CP et al.
Archives of Endocrinology and Metabolism, 2024
Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review.
Jauregui R et al.
Brain Sciences, 2023
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders.
Lee EM et al.
Frontiers in Genetics, 2023
37415600 (PubMed )
Supplement: DataSheet1.XLSX › Supplementary_Materials
WFS1 Gene-associated Diabetes Phenotypes and Identification of a Founder Mutation in Southern India.
Chapla A et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome.
Abreu D et al.
Jci Insight, 2021
34185708 (PubMed )
Supplement: jciinsight-6-145188-s152.pdf
Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.
Charif M et al.
Frontiers in Neurology, 2021
33841295 (PubMed )
Supplement: Table_2.XLSX › Feuil1
Single gene variants causing deafness in Asian Indians.
Panigrahi I et al.
Journal of Genetics, 2021
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
Functional assessment of variants associated with Wolfram syndrome.
Riachi M et al.
Human Molecular Genetics, 2019
The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing.
Wang DD et al.
Frontiers in Genetics, 2019
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D et al.
Human Mutation, 2017
WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.
Grenier J et al.
Ophthalmology, 2016
Neuroimaging evidence of deficient axon myelination in Wolfram syndrome.
Lugar HM et al.
Scientific Reports, 2016
26888576 (PubMed )
Supplement: srep21167-s1.pdf
Select a paper to view details