Associated Papers
Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)-A European cohort perspective.
Rohayem J et al.
Andrology, 2026
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia.
Yarali O et al.
Molecular Syndromology, 2025
Unraveling the genetic basis of MODY: insights from next-generation sequencing.
Eser M et al.
Journal of Applied Genetics, 2025
Correction to: Unraveling the genetic basis of MODY: insights from next‑generation sequencing.
Eser M et al.
Journal of Applied Genetics, 2025
Neonatal and Syndromic Forms of Diabetes.
Gobble MRS et al.
Current Diabetes Reports, 2025
A Comprehensive Target Panel Allows to Extend the Genetic Spectrum of Neuroendocrine Tumors.
Tsoy UA et al.
Neuroendocrinology, 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
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
Monogenic diabetes: the role of mitochondrial dysfunction and endoplasmic reticulum stress.
Ozsu E
Frontiers in Clinical Diabetes and Healthcare, 2025
Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype-Phenotype Correlations.
Grzybowska-Adamowicz J et al.
Genes, 2024
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 2024
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.
de Muijnck C et al.
Scientific Reports, 2024
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Wolfram Syndrome 1: A Neuropsychiatric Perspective on a Rare Disease.
Caruso V et al.
Genes, 2024
Comprehensive overview of disease models for Wolfram syndrome: toward effective treatments.
Morikawa S et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2024
Comparison of Worldwide Disease Prevalence and Genetic Prevalence of Inherited Retinal Diseases and Variant Interpretation Considerations.
Hanany M et al.
Cold Spring Harbor Perspectives in Medicine, 2024
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review.
Jauregui R et al.
Brain Sciences, 2023
Neurosensory Affectation in Patients Affected by Wolfram Syndrome: Descriptive and Longitudinal Analysis.
Esteban-Bueno G et al.
Healthcare (basel, Switzerland), 2023
A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.
Maamouri R et al.
Ophthalmic Genetics, 2023
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.
Einhorn Y et al.
Human Genomics, 2023
Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related Disorders.
Lee EM et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders.
Lee EM et al.
Frontiers in Genetics, 2023
The Role of ER Stress in Diabetes: Exploring Pathological Mechanisms Using Wolfram Syndrome.
Morikawa S et al.
International Journal of Molecular Sciences, 2022
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
Multidimensional analysis and therapeutic development using patient iPSC-derived disease models of Wolfram syndrome.
Kitamura RA et al.
Jci Insight, 2022
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
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
Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations.
Saint-Martin C et al.
Diabetes, 2022
An Atypical Case of Late-Onset Wolfram Syndrome 1 without Diabetes Insipidus.
Rigoli L et al.
International Journal of Environmental Research and Public Health, 2022
Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome.
Ren Z et al.
Bmc Endocrine Disorders, 2021
Monogenic Causes in the Type 1 Diabetes Genetics Consortium Cohort: Low Genetic Risk for Autoimmunity in Case Selection.
Marchand L et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin.
Wilf-Yarkoni A et al.
Neurology. Genetics, 2021
Monogenic and syndromic diabetes due to endoplasmic reticulum stress.
Stone SI et al.
Journal of Diabetes and Its Complications, 2021
The Impact of Mutations in Wolframin on Psychiatric Disorders.
Munshani S et al.
Frontiers in Pediatrics, 2021
Ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome.
Ustaoglu M et al.
European Journal of Ophthalmology, 2020
Compound heterozygous mutations in WFS1 cause atypical Wolfram syndrome.
Pan YD et al.
Chinese Medical Journal, 2019
An evaluation of genetic causes and environmental risks for bilateral optic atrophy.
Chen AT et al.
Plos One, 2019
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
Identification of a missense variant in the WFS1 gene that causes a mild form of Wolfram syndrome and is associated with risk for type 2 diabetes in Ashkenazi Jewish individuals.
Bansal V et al.
Diabetologia, 2018
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.
Bansal V et al.
Bmc Medicine, 2017
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
Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy.
Chen H et al.
Scientific Reports, 2016