Associated Papers
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.
Tacoli C et al.
Scientific Reports, 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
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
Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in the Portuguese Population.
Manco L et al.
Acta Medica Portuguesa, 2023
Association of Inherited Genetic Factors With Drug-Induced Hepatic Damage Among Children With Acute Lymphoblastic Leukemia.
Yang W et al.
Jama Network Open, 2022
Molecular dynamics of G6PD variants from sub-Saharan Africa.
Batista da Rocha J et al.
Biochemistry and Biophysics Reports, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
G6PD distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19.
da Rocha JEB et al.
The Pharmacogenomics Journal, 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
G6PD variant distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19.
da Rocha J et al.
Medrxiv : the Preprint Server for Health Sciences, 2020
Incidence of Glucose-6-Phosphate Dehydrogenase Deficiency among Swedish Newborn Infants.
Ohlsson A et al.
International Journal of Neonatal Screening, 2019
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
Genotype-Phenotype Correlations of Glucose-6-Phosphate-Deficient Variants Throughout an Activity Distribution.
Powers JL et al.
The Journal of Applied Laboratory Medicine, 2018
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
High prevalence of glucose-6-phosphate dehydrogenase deficiency without gene mutation suggests a novel genetic mechanism predisposing to ketosis-prone diabetes.
Sobngwi E et al.
The Journal of Clinical Endocrinology and Metabolism, 2005