Associated Papers
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.
Tacoli C et al.
Scientific Reports, 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
Glucose-6-phosphate Dehydrogenase Variants: Analysing in Indian Plasmodium vivax Patients.
Jakhan J et al.
Acta Parasitologica, 2024
Genetic variants causing G6PD deficiency: Clinical and biochemical data support new WHO classification.
Nannelli C et al.
British Journal of Haematology, 2023
Curated variation benchmarks for challenging medically relevant autosomal genes.
Wagner J et al.
Nature Biotechnology, 2022
[Genetic Mutation Characteristics of Glucose-6-Phosphate Dehydrogenase Deficiency Patients in Wuhan].
Li H et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2022
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
A Novel Variant in G6PD (c.1375C>G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity.
Bahr TM et al.
Neonatology, 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
Favism and Glucose-6-Phosphate Dehydrogenase Deficiency.
Luzzatto L et al.
The New England Journal of Medicine, 2018
Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.
Ng D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in the Arab World.
Doss CG et al.
Scientific Reports, 2016
Incidence and molecular characterization of Glucose-6-Phosphate Dehydrogenase deficiency among neonates for newborn screening in Chaozhou, China.
Yang H et al.
International Journal of Laboratory Hematology, 2015
Molecular Characterization of G6PD Deficient Variants in Nineveh Province, Northwestern Iraq.
Kashmoola MA et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2015
Why does the Iranian national program of screening newborns for G6PD enzyme deficiency miss a large number of affected infants?
Kosaryan M et al.
Pediatric Hematology and Oncology, 2014
Identification of Mutation of Glucose-6-Phosphate Dehy-drogenase (G6PD) in Iran: Meta- analysis Study.
Moosazadeh M et al.
Iranian Journal of Public Health, 2013
Neonatal hyperbilirubinemia in infants with G6PD c.563C > T Variant.
Moiz B et al.
Bmc Pediatrics, 2012
Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Pakistani population.
Moiz B et al.
International Journal of Laboratory Hematology, 2011
Molecular Characterization of Cosenza Mutation among Patients with Glucose-6-Phosphate Dehydrogenase Deficiency in huzestan Province, Southwest Iran.
Kazemi Nezhad SR et al.
Iranian Journal of Medical Sciences, 2011
Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach.
B R et al.
Plos One, 2011
Prevalence and molecular characterization of Glucose-6-Phosphate dehydrogenase deficient variants among the Kurdish population of Northern Iraq.
Al-Allawi N et al.
Bmc Blood Disorders, 2010
Three-dimensional modeling of glucose-6-phosphate dehydrogenase-deficient variants from German ancestry.
Kiani F et al.
Plos One, 2007
A comprehensive study on the major mutations in glucose-6-phosphate dehydrogenase-deficient polymorphic variants identified in the coastal provinces of Caspian Sea in the north of Iran.
Noori-Daloii MR et al.
Clinical Biochemistry, 2007
Further investigations of glucose-6-phosphate dehydrogenase variants in Flores Island, eastern Indonesia.
Kawamoto F et al.
Journal of Human Genetics, 2006
Coinheritance of variant UDP-glucuronosyl transferase 1A1 gene and glucose-6-phosphate dehydrogenase deficiency in adults with hyperbilirubinemia.
Huang MJ et al.
Pharmacogenetics, 2002
Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Kurdish population of Western Iran.
Rahimi Z et al.
Blood Cells, Molecules & Diseases, 0
Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy.
Martinez di Montemuros F et al.
Haematologica, 0