Associated Papers
A Phenotypic Paradigm for Cerebral Palsy Genetics.
Arterbery AS et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Lack of association between G6PD variants and Parkinson disease.
Chifamba LV et al.
Hgg Advances, 2026
Monogenic disorders of immunity: Common variants are not so rare.
Béziat V et al.
Cell Genomics, 2026
Neuroimaging to Genetics: Unraveling the Etiology of Cerebral Palsy in Children From Southern Brazil.
Do Valle DA et al.
Journal of Child Neurology, 2026
Hypomorphic ATP11c is a novel regulator of decreased efficacy of transfused red blood cells in humans and mice.
Zimring JC et al.
Hemasphere, 2026
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
No G6PD A- (G202A) variant detected among Plasmodium falciparum-positive patients in Awka, Southeast Nigeria: a hospital-based study.
Ikegbunam M et al.
Malariaworld Journal, 2026
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.
Tacoli C et al.
Scientific Reports, 2025
Amplicon-based DNA sequencing to characterize Duffy antigen polymorphisms and analysis of Duffy blood system and glucose-6-phosphate dehydrogenase deficiency in Mauritania.
Fontaine A et al.
Plos Neglected Tropical Diseases, 2025
Evidence for G6PD variant classification from multiplexed functional assays.
Geck RC et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetic variation of human G6PD impacts Red Blood Cell transfusion efficacy.
Karafin MS et al.
Biorxiv : the Preprint Server for Biology, 2025
Longitudinal Insights Into Polydactyly-Macrocephaly Syndrome: A Case Report of an Adult With a Recurrent MAX Variant.
de Oliveira RS et al.
American Journal of Medical Genetics. Part A, 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
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.
Cope HL et al.
Nature Medicine, 2025
High prevalence of G6PD mutations in blood donors from the Brazilian Amazon region.
Silva JNV et al.
Blood Transfusion = Trasfusione Del Sangue, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Severe Hemolytic Phenotype in Children With Sickle Cell Anemia and Co-Inherited Red Blood Cell Variants.
Srinivas M et al.
Pediatric Blood & Cancer, 2025
Human genetic variations conferring resistance to malaria.
Zhang X et al.
Journal of Translational Medicine, 2025
Caffeine impairs red blood cell storage quality by dual inhibition of ADORA2b signaling and G6PD activity.
Dzieciatkowska M et al.
Haematologica, 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
Concurrent Case of Glucose-6-Phosphate Deficiency and Dehydrated Hereditary Stomatocytosis in a 4-Month-old Boy.
Nguyen TM et al.
Journal of Pediatric Hematology/oncology, 2025
Glucose-6-Phosphate Dehydrogenase Deficiency Is Associated With Increased Risk of Acute Kidney Injury Independent of Hemolytic Complications in Children With Severe Malaria.
Namazzi R et al.
The Journal of Infectious Diseases, 2025
Increased Exercise Tolerance in G6PD African Variant Mice Driven by Metabolic Adaptations and Erythrophagocytosis.
Cendali FI et al.
Antioxidants (basel, Switzerland), 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 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
Coinheritance of polymorphic alleles of PIEZO1, G6PD and HBB enhances protection against malaria.
Abad P et al.
One Health (amsterdam, Netherlands), 2025
Caffeine Impairs Red Blood Cell Storage Quality by Dual Inhibition of ADORA2b Signaling and G6PD Activity.
Dzieciatkowska M et al.
Biorxiv : the Preprint Server for Biology, 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
Revised World Health Organization (WHO) classification of G6PD gene variants: Relevance to neonatal hyperbilirubinemia.
Watchko JF et al.
Seminars in Fetal & Neonatal Medicine, 2025
Arginine metabolism is a biomarker of red blood cell and human aging.
Reisz JA et al.
Aging Cell, 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
Increased exercise tolerance in humanized G6PD-deficient mice.
Cendali FI et al.
Blood Advances, 2025
The impact of genetic variability on Alzheimer's therapies: obstacles for pharmacogenetic progress.
Cacabelos R et al.
Expert Opinion on Drug Metabolism & Toxicology, 2025
A clinical algorithm to identify people with the glucose-6-phosphate dehydrogenase p.Val68Met variant at risk for diabetes undertreatment.
Pershad Y et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Health disparities in diabetes treatment: The challenge of G6PD deficiency.
Israel A et al.
Diabetes Research and Clinical Practice, 2025
Glucose-6-Phosphate Dehydrogenase Deficiency Presenting as Atypical Hemolytic Uremic Syndrome: A Case Series and Literature Review.
Almasri G et al.
Case Reports in Nephrology, 2025
A clinical algorithm to identify people with the glucose-6-phosphate dehydrogenase p.Val68Met variant at risk for diabetes undertreatment.
Pershad Y et al.
Genetics in Medicine Open, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Newborn Screening for Six Primary Conditions in a Clinical Setting in Morocco.
El Janahi S et al.
International Journal of Neonatal Screening, 2024
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
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.
Vela-Amieva M et al.
International Journal of Molecular Sciences, 2024
A 3-year-old Tanzanian Female with Glucose-6-Phosphate Dehydrogenase A- and a Novel Heterozygous PIEZO1 Mutation (2744A>G, N915S) Presenting with Severe Hemolytic Anemia.
Fustino NJ et al.
Annals of African Medicine, 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