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
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
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
39761661 (PubMed )
Supplement: supplement_1.docx
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Cao Z et al.
Molecular Genetics & Genomic Medicine, 2024
38284445 (PubMed )
Supplement: MGG3-12-e2357-s005.xlsx › Sheet1
Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening.
Tan M et al.
Plos One, 2024
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
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
Genotype-phenotype association and biochemical analyses of glucose-6-phosphate dehydrogenase variants: Implications for the hemolytic risk of using 8-aminoquinolines for radical cure.
Sudsumrit S et al.
Frontiers in Pharmacology, 2022
Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population.
Malik S et al.
Human Genomics, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency.
Tong Y et al.
Bmc Medical Genetics, 2020
Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants.
Cunningham AD et al.
Cell Reports, 2017
G6PD Murcia, G6PD Ube and G6PD Orissa: report of three G6PD mutations unusual for Italian population.
Minucci A et al.
Clinical Biochemistry, 2010
Two new variants of G6PD deficiencies in Singapore.
Hamada M et al.
Nepal Medical College Journal : Nmcj, 2010
Amino acid conservation and clinical severity of human glucose-6-phosphate dehydrogenase mutations.
Cheng YS et al.
Journal of Biomedical Science, 0
Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in the south of Thailand and identification of a novel variant (G6PD Songklanagarind).
Laosombat V et al.
Blood Cells, Molecules & Diseases, 0
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