Associated Papers
Genetic analysis and reporting from whole-exome sequencing data in 1052 patients with intellectual disability.
Pan X et al.
Journal of Molecular Medicine (berlin, Germany), 2026
Ethnic Variation in G6PD Deficiency: Epidemiology and Mutation Spectrum in Southern China's Multiethnic Hub, Nanning.
Yang J et al.
Clinical Genetics, 2026
Resolving haplotypes of the glucose-6-phosphate dehydrogenase gene using long-range polymerase chain reaction and Oxford Nanopore sequencing.
Chamchoy K et al.
Biology Methods & Protocols, 2026
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.
Tacoli C et al.
Scientific Reports, 2025
Glucose 6-phosphate dehydrogenase deficiency and Southeast Asian-specific mutations lower HbA1c levels in a Thai population: implications for diabetes diagnosis.
Mungkalasut P et al.
Diabetologia, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H 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
Integrated Phenotypic and Genotypic Approaches for Accurate Diagnosis of G6PD Deficiency: Implications for Drug Safety in Thailand.
Pengsuk N et al.
Pharmacology Research & Perspectives, 2025
Improved genetic screening with zygosity detection through multiplex high-resolution melting curve analysis and biochemical characterisation for G6PD deficiency.
Boonyuen U et al.
Tropical Medicine & International Health : Tm & Ih, 2025
Spectrum of glucose-6-phosphate dehydrogenase (G6PD) mutations and trends in hemoglobin levels among adult dengue patients in Thailand.
Chamnanchanunt S et al.
Plos One, 2025
Genetic analysis and molecular basis of G6PD deficiency among malaria patients in Thailand: implications for safe use of 8-aminoquinolines.
Boonyuen U et al.
Malaria Journal, 2024
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Cao Z et al.
Molecular Genetics & Genomic Medicine, 2024
Computational analysis of dimer G6PD structure to elucidate pathogenicity of G6PD variants.
Chandran S et al.
Biomedicine, 2024
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
Single-Drop Blood Detection of Common G6PD Mutations in Thailand Based on Allele-Specific Recombinase Polymerase Amplification with CRISPR-Cas12a.
Mungkalasut P et al.
Acs Omega, 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
Prevalence and molecular analysis of glucose-6-phosphate dehydrogenase deficiency in Chin State, Myanmar.
Aung JM et al.
Parasites, Hosts and Diseases, 2023
Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.
Geck RC et al.
American Journal of Human Genetics, 2023
Effect of neonatal reticulocytosis on glucose 6-phosphate dehydrogenase (G6PD) activity and G6PD deficiency detection: a cross-sectional study.
Pimpakan T et al.
Bmc Pediatrics, 2022
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
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
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
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
Simultaneous detection of G6PD mutations using SNPscan in a multiethnic minority area of Southwestern China.
Wei H et al.
Frontiers in Genetics, 2022
Cell and Gene Therapy for Anemia: Hematopoietic Stem Cells and Gene Editing.
Anurogo D et al.
International Journal of Molecular Sciences, 2021
Prevalence and molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Lue ethnic group of northern Thailand.
Sathupak S et al.
Scientific Reports, 2021
Genotype-Phenotype Correlation of G6PD Mutations among Central Thai Children with G6PD Deficiency.
Boonyawat B et al.
Anemia, 2021
Epidemiology, evolutionary origin, and malaria-induced positive selection effects of G6PD-deficient alleles in Chinese populations.
Zheng Y et al.
Molecular Genetics & Genomic Medicine, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
A pilot study of expanded newborn screening for 573 genes related to severe inherited disorders in China: results from 1,127 newborns.
Luo X et al.
Annals of Translational Medicine, 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
Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil.
Svidnicki MCCM et al.
Annals of Hematology, 2020
Incidence of Glucose-6-Phosphate Dehydrogenase Deficiency among Swedish Newborn Infants.
Ohlsson A et al.
International Journal of Neonatal Screening, 2019
Evaluating the performance of automated UV enzymatic assay for screening of glucose 6-phosphate dehydrogenase deficiency.
Anantasomboon P et al.
International Journal of Laboratory Hematology, 2019
High resolution melting curve analysis enables rapid and reliable detection of G6PD variants in heterozygous females.
Islam MT et al.
Bmc Genetics, 2018
Mutation of glucose-6-phosphate dehydrogenase deficiency in Chinese Han children in eastern Fujian.
Chen Y et al.
Medicine, 2018
[Evaluations of newborn screening program performance and enzymatic diagnosis of glucose-6-phosphate dehydrogenase deficiency in Guangzhou].
Tang F et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2018
Prevalence and Molecular Study of G6PD Deficiency in the Dai and Jingpo Ethnic Groups in the Dehong Prefecture of the Yunnan Province.
He M et al.
Human Heredity, 2018
Rapid detection of G6PD mutations by multicolor melting curve analysis.
Xia Z et al.
Molecular Genetics and Metabolism, 2016
[Detection of gene mutation in glucose-6-phosphate dehydrogenase deficiency by RT-PCR sequencing].
Lyu RY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2016
A Novel A1088T Mutation in the Glucose-6-Phosphate Dehydrogenase Gene Detected by RT-PCR Combined with DNA Sequencing.
Chen X et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2016