Associated Papers
Targeted analysis of whole exome sequencing in Thai patients with neonatal diabetes.
Plengvidhya N et al.
Human Genetics, 2026
Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A.
Gunelson AM et al.
Journal of Human Genetics, 2025
A novel pathogenic DICER1 gene variant is associated with hereditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis.
Targovnik HM et al.
Endocrine, 2025
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.
Rubino E et al.
Alzheimer's Research & Therapy, 2025
Identification of genetic risk variants for Type-2 Diabetes mellitus in Pakistani Pashtun population: A case-control association study.
Jan A et al.
Pakistan Journal of Medical Sciences, 2024
MODY Only Monogenic? A Narrative Review of the Novel Rare and Low-Penetrant Variants.
Hasballa I et al.
International Journal of Molecular Sciences, 2024
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Investigation of Monogenic Diabetes Genes in Thai Children with Autoantibody Negative Diabetes Requiring Insulin.
Teerawattanapong N et al.
Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2024
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
Clinical management and obstetric outcome in WFS1 Wolfram syndrome spectrum disorder: A case report and literature review.
Zhang K et al.
Taiwanese Journal of Obstetrics & Gynecology, 2023
Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants.
Ding Y et al.
Frontiers in Endocrinology, 2023
Evaluation of Type 2 Diabetes Risk Variants (Alleles) in the Pashtun Ethnic Population of Pakistan.
Jan A et al.
Journal of the Asean Federation of Endocrine Societies, 2023
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Association of HLA-B Gene Polymorphisms with Type 2 Diabetes in Pashtun Ethnic Population of Khyber Pakhtunkhwa, Pakistan.
Jan A et al.
Journal of Diabetes Research, 2021
Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.
Li Y et al.
Molecular Medicine Reports, 2020
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
Flannick J et al.
Nature, 2019
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Roberts L et al.
Investigative Ophthalmology & Visual Science, 2016
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.
Yang Y et al.
Endocrine Reviews, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Evaluation of exome sequencing variation in undiagnosed ataxias.
Sandford E et al.
Brain : a Journal of Neurology, 2015
Exome sequencing in undiagnosed inherited and sporadic ataxias.
Pyle A et al.
Brain : a Journal of Neurology, 2015
Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.
Valencia CA et al.
Frontiers in Pediatrics, 2015
WFS1 mutations in hearing-impaired children.
Häkli S et al.
International Journal of Audiology, 2014
Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.
Matsunaga K et al.
Plos One, 2014
A low-frequency GLIS3 variant associated with resistance to Japanese type 1 diabetes.
Awata T et al.
Biochemical and Biophysical Research Communications, 2013
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
Association of aggression with a novel microRNA binding site polymorphism in the wolframin gene.
Kovacs-Nagy R et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2013
Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype.
Rohayem J et al.
Diabetes Care, 2011
Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk.
Fawcett KA et al.
Diabetes, 2010
Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells.
Fonseca SG et al.
The Journal of Clinical Investigation, 2010
Wolframin gene H611R polymorphism: no direct association with suicidal behavior but possible link to mood disorders.
Zalsman G et al.
Progress in Neuro-psychopharmacology & Biological Psychiatry, 2009
Association study of the effect of WFS1 polymorphisms on risk of type 2 diabetes in Japanese population.
Mita M et al.
The Kobe Journal of Medical Sciences, 2008
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.
Hildebrand MS et al.
American Journal of Medical Genetics. Part A, 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
Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese.
Fukuoka H et al.
Journal of Human Genetics, 2007
A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss.
Noguchi Y et al.
Acta Oto-laryngologica, 2005
Polymorphisms in wolframin (WFS1) gene are possibly related to increased risk for mood disorders.
Koido K et al.
The International Journal of Neuropsychopharmacology, 2005
Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.
Giuliano F et al.
Human Mutation, 2005
Wolfram (DIDMOAD) syndrome: report of two patients.
Lin CH et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2004
Phenotype-genotype correlations in a series of wolfram syndrome families.
Smith CJ et al.
Diabetes Care, 2004
Genetic variations in the WFS1 gene in Japanese with type 2 diabetes and bipolar disorder.
Kawamoto T et al.
Molecular Genetics and Metabolism, 2004
Evidence for linkage on chromosome 4p16.1 in Type 1 diabetes Danish families and complete mutation scanning of the WFS1 (Wolframin) gene.
Larsen ZM et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2004
Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium.
Osman AA et al.
The Journal of Biological Chemistry, 2003
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
Cryns K et al.
Human Mutation, 2003
Multicentre Italian family-based association study on tyrosine hydroxylase, catechol-O-methyl transferase and Wolfram syndrome 1 polymorphisms in mood disorders.
Serretti A et al.
Psychiatric Genetics, 2003
Wolfram syndrome and suicide: Evidence for a role of WFS1 in suicidal and impulsive behavior.
Sequeira A et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2003