Associated Papers
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
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
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
36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.
Adeyemo A et al.
European Journal of Human Genetics : Ejhg, 2022
34837038 (PubMed )
Supplement: 41431_2021_984_MOESM3_ESM.xlsx › Variants_detected
Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome.
Ren Z et al.
Bmc Endocrine Disorders, 2021
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
Potulska-Chromik A et al.
Journal of Clinical Medicine, 2021
33652732 (PubMed )
Supplement: jcm-10-00914-s001.zip › jcm-1102563-supplementary.xlsx › Variants_after_filtering
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 Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing.
Wang DD et al.
Frontiers in Genetics, 2019
A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report.
Li M et al.
Bmc Pediatrics, 2018
[A novel mutation of WFS1 gene in Chinese patients with Wolfram syndrome].
Fang QC et al.
Zhonghua Yi Xue Za Zhi, 2005
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