Associated Papers
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.
Tacoli C et al.
Scientific Reports, 2025
Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study.
Lunke S et al.
Nature Medicine, 2025
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
Bisarad P et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Opportunities and Challenges of Population Pharmacogenomics.
Zhou Y et al.
Annals of Human Genetics, 2025
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.
Kablan A et al.
Clinical Genetics, 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
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 in Malaysia's Proto-Malay Orang Asli indigenous population: A molecular and epidemiological study.
Zailani MAH et al.
Plos One, 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
Molecular Characterization of Glucose-6-phosphate Dehydrogenase Deficiency in Oman.
Al-Sheryani A et al.
Oman Medical Journal, 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
Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population.
Srivastava P et al.
Frontiers in Genetics, 2023
Prevalence and molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Senoi Malaysian Orang Asli population.
Xuan-Rong Koh D et al.
Plos One, 2023
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
Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health.
Zhou Y et al.
Human Genetics, 2022
Curated variation benchmarks for challenging medically relevant autosomal genes.
Wagner J et al.
Nature Biotechnology, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Investigating effect of mutation on structure and function of G6PD enzyme: a comparative molecular dynamics simulation study.
Rani S et al.
Peerj, 2022
Prevalence of G6PD deficiency and G6PD variants amongst the southern Thai population.
Nuinoon M et al.
Peerj, 2022
Distribution of G6PD deficiency genotypes among Southeast Asian populations.
Tantular IS et al.
Tropical Medicine and Health, 2021
G6PD deficiency in blood donors of Manaus, Amazon Region, northern Brazil.
Ferreira NS et al.
International Journal of Laboratory Hematology, 2021
Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population.
Malik S et al.
Human Genomics, 2021
Glucose-6-Phosphate Dehydrogenase Deficiency: An Overview of the Prevalence and Genetic Variants in Saudi Arabia.
Hamali HA
Hemoglobin, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Molecular characterization of G6PD mutations reveals the high frequency of G6PD Aures in the Lao Theung population.
Sanephonasa A et al.
Malaria Journal, 2021
Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.
Scott SA et al.
Clinical and Translational Science, 2021
Genetic Factors and Delayed TSB Monitoring and Treatment as Risk Factors Associated with Severe Hyperbilirubinemia in Term Neonates Admitted for Phototherapy.
Boo NY et al.
Journal of Tropical Pediatrics, 2020
Molecular Characterization of G6PD Deficiency at a North Indian Centre: Implications for Diagnostic Testing Laboratories in Different Regions of India.
Singh N et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Prevalence of Glucose 6-Phosphate Dehydrogenase Variants in Malaria-Endemic Areas of South Central Timor, Eastern Indonesia.
Sulistyaningrum N et al.
The American Journal of Tropical Medicine and Hygiene, 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
Molecular Characterization of G6PD Deficiency: Report of Three Novel G6PD Variants.
Arunachalam AK et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2020
Genotyping of Malaysian G6PD-deficient neonates by reverse dot blot flow-through hybridisation.
Alina MF et al.
Journal of Human Genetics, 2020
G6PD genetic variations in neonatal Hyperbilirubinemia in Indonesian Deutromalay population.
Wisnumurti DA et al.
Bmc Pediatrics, 2019
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
Genotype-Phenotype Correlations of Glucose-6-Phosphate-Deficient Variants Throughout an Activity Distribution.
Powers JL et al.
The Journal of Applied Laboratory Medicine, 2018
Favism and Glucose-6-Phosphate Dehydrogenase Deficiency.
Luzzatto L et al.
The New England Journal of 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