Associated Papers
A Comprehensive Target Panel Allows to Extend the Genetic Spectrum of Neuroendocrine Tumors.
Tsoy UA et al.
Neuroendocrinology, 2025
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
39379762 (PubMed )
Supplement: 41588_2024_1947_MOESM4_ESM.xlsx › T8
Clinical and genetic architecture of a large cohort with auditory neuropathy.
Wang H et al.
Human Genetics, 2024
38456936 (PubMed )
Supplement: 439_2024_2652_MOESM1_ESM.xlsx › Supplementary_Data_4
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
37808701 (PubMed )
Supplement: media-2.xlsx › T6
The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes.
Li Y et al.
Scientific Reports, 2023
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
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
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism
Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.
Qian X et al.
Scientific Reports, 2015
A low-frequency GLIS3 variant associated with resistance to Japanese type 1 diabetes.
Awata T et al.
Biochemical and Biophysical Research Communications, 2013
WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.
Yu G et al.
Endocrine, 2010
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
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
Cryns K et al.
Human Mutation, 2003
Identification of novel WFS1 mutations in Italian children with Wolfram syndrome.
Tessa A et al.
Human Mutation, 2001
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