Associated Papers
Under the dual hit: genetic and phenotypic analysis of a Han family with severe adolescent cirrhosis from the convergence of Wilson's disease and favism.
Xie YQ et al.
Gene, 2026
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
Genetic insights into hypospadias in the Taiwanese population: a Whole-Exome Sequencing study in a single center.
Chou CM et al.
Journal of Pediatric Surgery, 2026
Association between G6PD gene variants and adverse pregnancy outcomes.
Guo D et al.
Bmc Pregnancy and Childbirth, 2026
Ethnic Variation in G6PD Deficiency: Epidemiology and Mutation Spectrum in Southern China's Multiethnic Hub, Nanning.
Yang J et al.
Clinical Genetics, 2026
G6PD deficiency as a underrecognized genetic risk factor for rare neurological disorders: evidence from a population-based genetic analysis.
Peng Q et al.
Frontiers in Genetics, 2026
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.
Tacoli C et al.
Scientific Reports, 2025
Screening, genetic analysis, and clinical transfusion implications of thalassaemia and glucose-6-phosphate dehydrogenase deficiency in blood donors.
Chen ZX et al.
Transfusion Medicine (oxford, England), 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
Establishment of reference interval (RI) for G6PD/6PGD ratio in adults from Yangjiang, China.
Wang Z et al.
Annals of Hematology, 2025
[Analysis of Gene Mutations Distribution and Enzyme Activity of G6PD Deficiency in Newborns in Guilin Region].
Yang DM et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2025
Human genetic variations conferring resistance to malaria.
Zhang X et al.
Journal of Translational Medicine, 2025
Opportunities and Challenges of Population Pharmacogenomics.
Zhou Y et al.
Annals of Human Genetics, 2025
Screening G6PD Mutations in Blood Donors by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry with High-Throughput and Multiple Targets.
Li Z et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Incidental Identification of Potentially Affected Individuals Through Expanded Carrier Screening During Preconception or Early Pregnancy.
Lü Y et al.
Prenatal Diagnosis, 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
Rapid and reliable detection of G6PD mutations using recombinase polymerase amplification coupled with lateral flow strip.
Jacob BAC et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
[Distribution of G6PD mutations and phenotypic characteristics in individuals with auditory neuropathy].
Li DY et al.
Zhonghua Yi Xue Za Zhi, 2025
Within-host modeling of primaquine-induced hemolysis in hemizygote glucose-6-phosphate dehydrogenase deficient healthy volunteers.
Watson JA et al.
Antimicrobial Agents and Chemotherapy, 2025
The medium-fluorescence reticulocyte ratio is an independent predictor of G6PD deficiency neonates.
Rao M et al.
International Journal of Hematology, 2025
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
Characteristics of glucose-6-phosphate dehydrogenase mutations in newborns with deficiency from 2021 to 2022 in the Heze area of China.
Zhang X et al.
Frontiers in Immunology, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 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
G6PD deficiency in Malaysia's Proto-Malay Orang Asli indigenous population: A molecular and epidemiological study.
Zailani MAH et al.
Plos One, 2025
Functional analysis of G6PD variants associated with low G6PD activity in the All of Us Research Program.
Powell NR et al.
Genetics, 2024
Exploring Appropriate Reference Intervals and Clinical Decision Limits for Glucose-6-Phosphate Dehydrogenase Activity in Individuals From Guangzhou, China.
Huang Z et al.
Annals of Laboratory Medicine, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Screening, genotyping and haematological analysis of glucose-6-phosphate dehydrogenase deficiency in the blood donors of Wuxi City, China.
Jin J et al.
Vox Sanguinis, 2024
Glucose-6-phosphate Dehydrogenase Variants: Analysing in Indian Plasmodium vivax Patients.
Jakhan J et al.
Acta Parasitologica, 2024
Glucose-6-phosphate dehydrogenase deficiency as a cause for nonimmune hydrops fetalis and severe fetal anemia: A systematic review.
Iyer NS et al.
Molecular Genetics & Genomic Medicine, 2024
Hemolysis attributed to high dose vitamin C: Two case reports.
Wang SW et al.
World Journal of Clinical Cases, 2024
Risk of diabetes mellitus based on the interactive association between G6PD rs72554664 polymorphism and sex in Taiwan Biobank individuals.
Chang YL et al.
Scientific Reports, 2024
Prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Gia Lai Province, Vietnam.
Võ TC et al.
Parasitology International, 2024
Functional Analysis of G6PD Variants Associated With Low G6PD Activity in the All of Us Research Program.
Powell NR et al.
Medrxiv : the Preprint Server for Health Sciences, 2024