Associated Papers
The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.
Sanjuan-Ruiz I et al.
Molecular Neurodegeneration Advances, 2025
Loss of tissue-type plasminogen activator causes multiple developmental anomalies.
Uguen K et al.
Brain Communications, 2024
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
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders.
Lee EM et al.
Frontiers in Genetics, 2023
Longitudinal Changes in Vision and Retinal Morphology in Wolfram Syndrome.
O'Bryhim BE et al.
American Journal of Ophthalmology, 2022
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.
Ramaswamy S et al.
Journal of Personalized Medicine, 2022
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
Potulska-Chromik A et al.
Journal of Clinical Medicine, 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
The Impact of Mutations in Wolframin on Psychiatric Disorders.
Munshani S et al.
Frontiers in Pediatrics, 2021
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
Whole‑exome sequencing in Russian children with non‑type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY‑related and unrelated genes.
Glotov OS et al.
Molecular Medicine Reports, 2019
Wolfram Syndrome: A rare cause of progressive cerebellar ataxia.
Machado FSM et al.
Neurology. Clinical Practice, 2019
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON.
Galvez-Ruiz A et al.
Neuro-ophthalmology (aeolus Press), 2018
The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families.
Razmara E et al.
Iranian Journal of Basic Medical Sciences, 2018
Combined Pancreatic Islet-Lung-Liver Transplantation in a Pediatric Patient with Cystic Fibrosis-Related Diabetes.
Klee P et al.
Hormone Research in Paediatrics, 2018
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D et al.
Human Mutation, 2017
Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes.
Reutter H et al.
Current Genomics, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.
Qian X et al.
Scientific Reports, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.
Chaussenot A et al.
Clinical Genetics, 2015
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
Phenotypic characteristics of early Wolfram syndrome.
Marshall BA et al.
Orphanet Journal of Rare Diseases, 2013
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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
Phenotypic characterization of a DFNA6 family showing progressive low-frequency sensorineural hearing impairment.
Tóth T et al.
International Journal of Pediatric Otorhinolaryngology, 2006
Phenotype-genotype correlations in a series of wolfram syndrome families.
Smith CJ et al.
Diabetes Care, 2004
Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families.
Domènech E et al.
Clinical Genetics, 2004
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
Cryns K et al.
Human Mutation, 2003
The WFS1 (Wolfram syndrome 1) is not a major susceptibility gene for the development of psychiatric disorders.
Martorell L et al.
Psychiatric Genetics, 2003
No association of mutations and mRNA expression of WFS1/wolframin with bipolar disorder in humans.
Kato T et al.
Neuroscience Letters, 2003
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
Cryns K et al.
Human Genetics, 2002
WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.
Khanim F et al.
Human Mutation, 2001
Mutation screening of the Wolfram syndrome gene in psychiatric patients.
Torres R et al.
Molecular Psychiatry, 2001