Associated Papers
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.
Tacoli C et al.
Scientific Reports, 2025
41423656 (PubMed )
Supplement: 41598_2025_31822_MOESM3_ESM.xlsx › Sheet1
Opportunities and Challenges of Population Pharmacogenomics.
Zhou Y et al.
Annals of Human Genetics, 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
40666837 (PubMed )
Supplement: media-2.xlsx › Sheet1
Genetic variants causing G6PD deficiency: Clinical and biochemical data support new WHO classification.
Nannelli C et al.
British Journal of Haematology, 2023
Genetic background and clinical characteristics of infantile hyperammonemia.
Li M et al.
Translational Pediatrics, 2023
Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.
Geck RC et al.
American Journal of Human Genetics, 2023
36681081 (PubMed )
Supplement: mmc1.xlsx › Table_S1_variants
Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis.
Pfeffer DA et al.
Pathogens (basel, Switzerland), 2022
Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health.
Zhou Y et al.
Human Genetics, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
35181665 (PubMed )
Supplement: 41525_2022_283_MOESM2_ESM.xlsx › Alleles
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
Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population.
Malik S et al.
Human Genomics, 2021
A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency.
Tong Y et al.
Bmc Medical Genetics, 2020
Favism and Glucose-6-Phosphate Dehydrogenase Deficiency.
Luzzatto L et al.
The New England Journal of Medicine, 2018
Possible association of 3' UTR +357 A>G, IVS11-nt 93 T>C, c.1311 C>T polymorphism with G6PD deficiency.
Sirdah MM et al.
Hematology (amsterdam, Netherlands), 2017
Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in the Arab World.
Doss CG et al.
Scientific Reports, 2016
Molecular characterization of glucose-6-phosphate dehydrogenase deficiency among Jordanians.
Al-Sweedan SA et al.
Acta Haematologica, 2012
Select a paper to view details