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
Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population.
Halabi I et al.
Frontiers in Pediatrics, 2025
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).
Wu R et al.
Frontiers in Neurology, 2025
Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.
Wu R et al.
Orphanet Journal of Rare Diseases, 2024
Multimorbidity due to novel pathogenic variants in the WFS1/RP1/NOD2 genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn's disease in a British family.
Berry V et al.
Bmj Open Ophthalmology, 2023
Identification of monogenic variants in more than ten per cent of children without type 1 diabetes-related autoantibodies at diagnosis in the Finnish Pediatric Diabetes Register.
Harsunen M et al.
Diabetologia, 2023
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders.
Lee EM et al.
Frontiers in Genetics, 2023
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Ji J et al.
Cold Spring Harbor Molecular Case Studies, 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
WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims.
Kytövuori L et al.
Journal of Human Genetics, 2013
The E3 ligase Smurf1 regulates Wolfram syndrome protein stability at the endoplasmic reticulum.
Guo X et al.
The Journal of Biological Chemistry, 2011
Neurologic features and genotype-phenotype correlation in Wolfram syndrome.
Chaussenot A et al.
Annals of Neurology, 2011
WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.
Yu G et al.
Endocrine, 2010
Hearing impairment in genotyped Wolfram syndrome patients.
Plantinga RF et al.
The Annals of Otology, Rhinology, and Laryngology, 2008
Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.
Cano A et al.
American Journal of Medical Genetics. Part A, 2007
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
Cryns K et al.
Human Mutation, 2003
[From gene to disease; mutations in the WFS1-gene as the cause of juvenile type I diabetes mellitus with optic atrophy (Wolfram syndrome)].
Pennings RJ et al.
Nederlands Tijdschrift Voor Geneeskunde, 2002
WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.
Khanim F et al.
Human Mutation, 2001
Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1.
Hardy C et al.
American Journal of Human Genetics, 1999
Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations.
Pennings RJ et al.
Audiology & Neuro-otology, 0
Neuropathy in Wolfram syndrome.
Mathis S et al.
European Journal of Medical Genetics, 0
A Pair of Siblings With Wolfram Syndrome: A Review of the Literature and Treatment Options.
Png D et al.
Journal of Investigative Medicine High Impact Case Reports, 0