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
Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation.
Birch CL et al.
Journal of Translational Medicine, 2025
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.
Tacoli C et al.
Scientific Reports, 2025
Genetic variation of human G6PD impacts Red Blood Cell transfusion efficacy.
Karafin MS et al.
Biorxiv : the Preprint Server for Biology, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Association of IgG4-related disease with human inborn errors of immunity.
Batani V et al.
Rheumatology (oxford, England), 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 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
Enhancing NADPH to restore redox homeostasis and lysosomal function in G6PD-deficient microglia.
Mondal A et al.
Heliyon, 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
G6PD deficiency triggers dopamine loss and the initiation of Parkinson's disease pathogenesis.
Stykel MG et al.
Cell Reports, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Functional analysis of G6PD variants associated with low G6PD activity in the All of Us Research Program.
Powell NR et al.
Genetics, 2024
Glucose-6-phosphate Dehydrogenase Variants: Analysing in Indian Plasmodium vivax Patients.
Jakhan J et al.
Acta Parasitologica, 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
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
Genetic variants causing G6PD deficiency: Clinical and biochemical data support new WHO classification.
Nannelli C et al.
British Journal of Haematology, 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
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.
Balciuniene J et al.
Jama Network Open, 2023
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Hartley T et al.
Clinical Genetics, 2023
Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.
Geck RC et al.
American Journal of Human Genetics, 2023
Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in the Portuguese Population.
Manco L et al.
Acta Medica Portuguesa, 2023
Relationship between Glucose-6-Phosphate Dehydrogenase Deficiency, X-Chromosome Inactivation and Inflammatory Markers.
Errigo A et al.
Antioxidants (basel, Switzerland), 2023
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19.
López-Rodríguez R et al.
Scientific Reports, 2022
High Frequency of Glucose-6-Phosphate Dehydrogenase Deficiency in Patients Diagnosed with Celiac Disease.
Dore MP et al.
Nutrients, 2022
Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia.
Rizo-delaTorre LDC et al.
Annals of Human Genetics, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population.
Malik S et al.
Human Genomics, 2021
The Controversial Role of Glucose-6-Phosphate Dehydrogenase Deficiency on Cardiovascular Disease: A Narrative Review.
Dore MP et al.
Oxidative Medicine and Cellular Longevity, 2021
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
Concordance between glucose-6-phosphate dehydrogenase (G6PD) genotype and phenotype and rasburicase use in patients with hematologic malignancies.
Robinson KM et al.
The Pharmacogenomics Journal, 2019
The Spectrum of SPTA1-Associated Hereditary Spherocytosis.
Chonat S et al.
Frontiers in Physiology, 2019
Cloning and biochemical characterization of three glucose‑6‑phosphate dehydrogenase mutants presents in the Mexican population.
Cortés-Morales YY et al.
International Journal of Biological Macromolecules, 2018
Genotype-Phenotype Correlations of Glucose-6-Phosphate-Deficient Variants Throughout an Activity Distribution.
Powers JL et al.
The Journal of Applied Laboratory Medicine, 2018
Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence.
Canu G et al.
Human Genome Variation, 2018
G6PD deficiency alleles in a malaria-endemic region in the Western Brazilian Amazon.
Dombrowski JG et al.
Malaria Journal, 2017