Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
39386107 (PubMed )
Supplement: mmc2.xlsx › standard
Ethnic variation and structure-function analysis of tauopathy-associated PERK alleles.
Park G et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant
Neurodegeneration risk factor, EIF2AK3 (PERK), influences tau protein aggregation.
Park G et al.
The Journal of Biological Chemistry, 2023
36563857 (PubMed )
Supplement: mmc3.xlsx › Sheet1
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8774__IV-2_
Whole exome sequencing reveals novel candidate gene variants for MODY.
Yalçın Çapan Ö et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
32645390 (PubMed )
Supplement: 1-s2.0-S0009898120303211-mmc1.xlsx › Sayfa1
Novel EIF2AK4 mutations in histologically proven pulmonary capillary hemangiomatosis and hereditary pulmonary arterial hypertension.
Abou Hassan OK et al.
Bmc Medical Genetics, 2019
31711431 (PubMed )
Supplement: 12881_2019_915_MOESM5_ESM.pdf
A Genotype-First Approach for Clinical and Genetic Evaluation of Wolcott-Rallison Syndrome in a Large Cohort of Iranian Children With Neonatal Diabetes.
Abbasi F et al.
Canadian Journal of Diabetes, 2018
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
Maguire SL et al.
The Journal of Pathology, 2016
27512948 (PubMed )
Supplement: PATH-240-315-s015.xlsx › Table_S2
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-0007-Table_S10.xlsx › Sheet1
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A0EM-01A.domain
Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy.
Ferrari R et al.
Neurobiology of Aging, 2014
Recurrent Hepatitis in Two Iranian Children: A Novel (Q166R) Mutation in EIF2AK3 Leading to Wolcott-Rallison Syndrome.
Behnam B et al.
Hepatitis Monthly, 2013
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