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 interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.
Geck RC et al.
American Journal of Human Genetics, 2023
Prevalence and molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Senoi Malaysian Orang Asli population.
Xuan-Rong Koh D et al.
Plos One, 2023
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
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
Molecular Characterization of G6PD Deficiency: Report of Three Novel G6PD Variants.
Arunachalam AK et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2020
Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants.
Cunningham AD et al.
Cell Reports, 2017
Glucose-6-phosphate dehydrogenase (G6PD) deficiency among tribal populations of India - Country scenario.
Mukherjee MB et al.
The Indian Journal of Medical Research, 2015
A large, systematic molecular-genetic study of G6PD in Indian populations identifies a new non-synonymous variant and supports recent positive selection.
Sarkar S et al.
Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2010
Glucose-6-phosphate dehydrogenase deficiency & neonatal hyperbilirubinaemia.
Madan N et al.
The Indian Journal of Medical Research, 1989
Incidence of glucose-6-phosphate dehydrogenase deficiency in a hospital population of Delhi.
Madan N et al.
The Indian Journal of Medical Research, 1981
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