Associated Papers
Integrating next-generation sequencing with biochemical screening to optimize first-tier newborn screening systems.
Yin Y et al.
Human Genomics, 2026
Newborn screening for G6PD deficiency in HeFei, FuYang and AnQing, China: Prevalence, cut-off value, variant spectrum.
Li H et al.
Journal of Medical Biochemistry, 2024
Screening and the analysis of genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Fujian province, China.
Zhou J et al.
Frontiers in Genetics, 2024
Genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangzhou, China.
Li Z et al.
Human Genomics, 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
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
Molecular Characterization and Genotype-Phenotype Correlation of G6PD Mutations in Five Ethnicities of Northern Vietnam.
Ngo TT et al.
Anemia, 2022
Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in neonates in Wuhan: Description of four novel variants.
Shen S et al.
Frontiers in Genetics, 2022
Simultaneous detection of G6PD mutations using SNPscan in a multiethnic minority area of Southwestern China.
Wei H et al.
Frontiers in Genetics, 2022
Newborn Screening for G6PD Deficiency in Xiamen, China: Prevalence, Variant Spectrum, and Genotype-Phenotype Correlations.
Wang X et al.
Frontiers in Genetics, 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 › gnomAD
Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in the Shenzhen Population.
Gao J et al.
Human Heredity, 2020
Correcting glucose-6-phosphate dehydrogenase deficiency with a small-molecule activator.
Hwang S et al.
Nature Communications, 2018
Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates.
Fu C et al.
Scientific Reports, 2018
[Establishment and clinical application of dried blood spots and mixed leukocytes for determination of acid alpha-glucosidase activity].
Qiu WJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010
G6PD NanKang (517 T-->C; 173 Phe-->Leu): a new Chinese G6PD variant associated with neonatal jaundice.
Chen HL et al.
Human Heredity, 0
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