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
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
A Case of Horizontal Gaze Palsy With Progressive Scoliosis and G6PD Deficiency in a Child.
Kaur P et al.
Cureus, 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
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
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort.
Akter H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Primaquine in glucose-6-phosphate dehydrogenase deficiency: an adaptive pharmacometric assessment of ascending dose regimens in healthy volunteers.
Pukrittayakamee S et al.
Elife, 2024
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D et al.
The Journal of Clinical Investigation, 2024
The First Report of Three Glucose-6-Phosphate Dehydrogenase (G6PD) Variants: Mediterranean, Orissa and Kalyan-Kerala from Northeast India.
Basumatary N et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 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
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
Prevalence and molecular analysis of glucose-6-phosphate dehydrogenase deficiency in Chin State, Myanmar.
Aung JM et al.
Parasites, Hosts and Diseases, 2023
Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.
Geck RC et al.
American Journal of Human Genetics, 2023
A community based study on haemoglobinopathies and G6PD deficiency among particularly vulnerable tribal groups in hard-to-reach malaria endemic areas of Odisha, India: implications on malaria control.
Dixit S et al.
Malaria Journal, 2022
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
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Active Pharmacovigilance for Primaquine Radical Cure of Plasmodium vivax Malaria in Odisha, India.
Anvikar AR et al.
The American Journal of Tropical Medicine and Hygiene, 2022
Glucose-6-Phosphate Dehydrogenase Deficiency and Neonatal Hyperbilirubinemia: Insights on Pathophysiology, Diagnosis, and Gene Variants in Disease Heterogeneity.
Lee HY et al.
Frontiers in Pediatrics, 2022
Molecular Characterization and Genotype-Phenotype Correlation of G6PD Mutations in Five Ethnicities of Northern Vietnam.
Ngo TT et al.
Anemia, 2022
The Thai reference exome (T-REx) variant database.
Shotelersuk V et al.
Clinical Genetics, 2021
Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population.
Malik S et al.
Human Genomics, 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
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
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
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 A- is the major cause of G6PD deficiency among the Siddis of Karnataka, India.
Devendra R et al.
Annals of Human Biology, 2020
Fine Mapping of Glucose 6 Phosphate Dehydrogenase (G6PD) Deficiency in a Rural Malaria Area of South West Odisha Using the Clinical, Hematological and Molecular Approach.
Kumar R et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Prevalence and distribution of G6PD deficiency: implication for the use of primaquine in malaria treatment in Ethiopia.
Lo E et al.
Malaria Journal, 2019
Prevalence and Genetic Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in Anemic Subjects from Uttar Pradesh, India.
Tripathi P et al.
Journal of Pediatric Genetics, 2019
The gene spectrum of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangdong province, China.
Lin F et al.
Gene, 2018
High resolution melting curve analysis enables rapid and reliable detection of G6PD variants in heterozygous females.
Islam MT et al.
Bmc Genetics, 2018
Genotypic and phenotypic characterization of G6PD deficiency in Bengali adults with severe and uncomplicated malaria.
Plewes K et al.
Malaria Journal, 2017
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
[Molecular epidemiology of G6PD deficiency in Chaozhou area of eastern Guangdong Province].
Lin F et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2016
Current and future perspective of newborn screening: an Indian scenario.
Kaur G et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016
Molecular Analysis of Glucose-6-Phosphate Dehydrogenase Gene Mutations in Bangladeshi Individuals.
Sarker SK et al.
Plos One, 2016
Glucose-6-phosphate dehydrogenase (G6PD) deficiency among tribal populations of India - Country scenario.
Mukherjee MB et al.
The Indian Journal of Medical Research, 2015
Clinical applications and implications of common and founder mutations in Indian subpopulations.
Ankala A et al.
Human Mutation, 2015