Associated Papers
Lack of association between G6PD variants and Parkinson disease.
Chifamba LV et al.
Hgg Advances, 2026
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.
Tacoli C et al.
Scientific Reports, 2025
Evaluation of the functional impact of rare CYP2C19 missense variants identified in understudied Populations: An Integrated in silico and in vitro analysis.
Saleous R et al.
Biochemical Pharmacology, 2025
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based MinION Sequencing Assay.
Tacoli C et al.
Biorxiv : the Preprint Server for Biology, 2025
Enhancing NADPH to restore redox homeostasis and lysosomal function in G6PD-deficient microglia.
Mondal A et al.
Heliyon, 2025
G6PD deficiency triggers dopamine loss and the initiation of Parkinson's disease pathogenesis.
Stykel MG et al.
Cell Reports, 2025
Functional analysis of G6PD variants associated with low G6PD activity in the All of Us Research Program.
Powell NR et al.
Genetics, 2024
Functional Analysis of G6PD Variants Associated With Low G6PD Activity in the All of Us Research Program.
Powell NR et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.
Geck RC et al.
American Journal of Human Genetics, 2023
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Genetic diversity of candidate loci linked to Mycobacterium tuberculosis resistance to bedaquiline, delamanid and pretomanid.
Gómez-González PJ et al.
Scientific Reports, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency.
Tong Y et al.
Bmc Medical Genetics, 2020
Concordance between glucose-6-phosphate dehydrogenase (G6PD) genotype and phenotype and rasburicase use in patients with hematologic malignancies.
Robinson KM et al.
The Pharmacogenomics Journal, 2019
Prevalence of G6PD deficiency and molecular characterization of G202A, A376G and C563T polymorphisms in newborns in Southeastern Brazil.
Pereira LLMD et al.
Einstein (sao Paulo, Brazil), 2019
Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.
Ng D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
G6PD deficiency in Latin America: systematic review on prevalence and variants.
Monteiro WM et al.
Memorias Do Instituto Oswaldo Cruz, 2014
Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach.
B R et al.
Plos One, 2011
[Molecular analysis of glucose-6-dehydrogenase deficiency in Spain].
Vives Corrons JL et al.
Sangre, 1997
Two new mutations of the glucose-6-phosphate dehydrogenase (G6PD) gene associated with haemolytic anaemia: clinical, biochemical and molecular relationships.
Zarza R et al.
British Journal of Haematology, 1997
Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency in south-east Sicily.
Cittadella R et al.
Annals of Human Genetics, 1997