Associated Papers
Non-truncating BMPR1A variants associated with familial colorectal cancer and adenomatous polyps.
Nieminen TT et al.
Bmc Cancer, 2025
41023686 (PubMed )
Supplement: 12885_2025_14865_MOESM2_ESM.xlsx › Ad_II.5_FCCX-W
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
The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.
Alkhidir S et al.
Scientific Reports, 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
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
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
Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.
Qian X et al.
Scientific Reports, 2015
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