Associated Papers
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.
Tacoli C et al.
Scientific Reports, 2025
Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study.
Lunke S et al.
Nature Medicine, 2025
Amplicon-based DNA sequencing to characterize Duffy antigen polymorphisms and analysis of Duffy blood system and glucose-6-phosphate dehydrogenase deficiency in Mauritania.
Fontaine A et al.
Plos Neglected Tropical Diseases, 2025
High prevalence of G6PD mutations in blood donors from the Brazilian Amazon region.
Silva JNV et al.
Blood Transfusion = Trasfusione Del Sangue, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 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
Biochemical screening of glucose-6-phosphate dehydrogenase deficiency in borderline cases: Complementary inputs of standardization enzymes and comparison with genetic status.
Raynor A et al.
British Journal of Haematology, 2025
Functional analysis of G6PD variants associated with low G6PD activity in the All of Us Research Program.
Powell NR et al.
Genetics, 2024
Glucose-6-phosphate Dehydrogenase Variants: Analysing in Indian Plasmodium vivax Patients.
Jakhan J et al.
Acta Parasitologica, 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
Molecular Characterization of Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency in Different Ethnic Groups of Blood Donors in Mauritania.
Taleb M et al.
Frontiers in Bioscience (scholar Edition), 2023
An Overall View of the Functional and Structural Characterization of Glucose-6-Phosphate Dehydrogenase Variants in the Mexican Population.
Hernández-Ochoa B et al.
International Journal of Molecular Sciences, 2023
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
Performance of a Commercial Multiplex Allele-Specific Polymerase Chain Reaction Kit to Genotype African-Type Glucose-6-Phosphate Dehydrogenase Deficiency.
Djigo OKM et al.
The American Journal of Tropical Medicine and Hygiene, 2023
Duffy blood system and G6PD genetic variants in vivax malaria patients from Manaus, Amazonas, Brazil.
Ferreira NS et al.
Malaria Journal, 2022
Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia.
Rizo-delaTorre LDC et al.
Annals of Human Genetics, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Distribution of HbS Allele and Haplotypes in a Multi-Ethnic Population of Guinea Bissau, West Africa: Implications for Public Health Screening.
Martella M et al.
Frontiers in Pediatrics, 2022
Glucose-6-Phosphate Dehydrogenase Deficiency and Neonatal Hyperbilirubinemia: Insights on Pathophysiology, Diagnosis, and Gene Variants in Disease Heterogeneity.
Lee HY et al.
Frontiers in Pediatrics, 2022
G6PD deficiency in blood donors of Manaus, Amazon Region, northern Brazil.
Ferreira NS et al.
International Journal of Laboratory Hematology, 2021
Assessment of CareStart G6PD rapid diagnostic test and CareStart G6PD biosensor in Mauritania.
Djigo OKM et al.
Infectious Diseases of Poverty, 2021
Molecular Epidemiology of G6PD Genotypes in Different Ethnic Groups Residing in Saharan and Sahelian Zones of Mauritania.
Djigo OKM et al.
Pathogens (basel, Switzerland), 2021
Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening.
Vela-Amieva M et al.
Orphanet Journal of Rare Diseases, 2021
DALIA- a comprehensive resource of Disease Alleles in Arab population.
Vatsyayan A et al.
Plos One, 2021
G6PD Variants and Haemolytic Sensitivity to Primaquine and Other Drugs.
Bancone G et al.
Frontiers in Pharmacology, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 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
Bead-based assays to simultaneously detect multiple human inherited blood disorders associated with malaria.
Grignard L et al.
Malaria Journal, 2019
Assessment of glucose-6-phosphate dehydrogenase activity using CareStart G6PD rapid diagnostic test and associated genetic variants in Plasmodium vivax malaria endemic setting in Mauritania.
Djigo OKM et al.
Plos One, 2019
G6PD deficiency, primaquine treatment, and risk of haemolysis in malaria-infected patients.
Avalos S et al.
Malaria Journal, 2018
Correcting glucose-6-phosphate dehydrogenase deficiency with a small-molecule activator.
Hwang S et al.
Nature Communications, 2018
Low and heterogeneous prevalence of glucose-6-phosphate dehydrogenase deficiency in different settings in Ethiopia using phenotyping and genotyping approaches.
Shitaye G et al.
Malaria Journal, 2018
Genotype-Phenotype Correlations of Glucose-6-Phosphate-Deficient Variants Throughout an Activity Distribution.
Powers JL et al.
The Journal of Applied Laboratory Medicine, 2018
Understanding human genetic factors influencing primaquine safety and efficacy to guide primaquine roll-out in a pre-elimination setting in southern Africa.
Awandu SS et al.
Malaria Journal, 2018
Prevalence, genetic variants and clinical implications of G-6-PD deficiency in Burkina Faso: a systematic review.
Ouattara AK et al.
Bmc Medical Genetics, 2017
G6PD deficiency alleles in a malaria-endemic region in the Western Brazilian Amazon.
Dombrowski JG et al.
Malaria Journal, 2017
Genetic Background of the Sickle Cell Disease Pediatric Population of Dakar, Senegal, and Characterization of a Novel Frameshift β-Thalassemia Mutation [HBB: c.265_266del; p.Leu89Glufs*2].
Gueye Tall F et al.
Hemoglobin, 2017
Characterisation of the opposing effects of G6PD deficiency on cerebral malaria and severe malarial anaemia.
Clarke GM et al.
Elife, 2017
Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in the Arab World.
Doss CG et al.
Scientific Reports, 2016
Glucose-6-phosphate dehydrogenase deficiency and reduced haemoglobin levels in African children with severe malaria.
Nguetse CN et al.
Malaria Journal, 2016
Sub-Saharan red cell antigen phenotypes and glucose-6-phosphate dehydrogenase deficiency variants in French Guiana.
Petit F et al.
Malaria Journal, 2016