Associated Papers
Semi-automated genomic newborn screening highlights complexities in reporting.
Chowdhury A et al.
Npj Genomic Medicine, 2026
A Phenotypic Paradigm for Cerebral Palsy Genetics.
Arterbery AS et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 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
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
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
Recurrent Hospitalisation in a Child With Hypopigmented Hair: Inborn Errors of Immunity Emerge.
Kundavaram R et al.
Cureus, 2024
Glucose-6-phosphate Dehydrogenase Variants: Analysing in Indian Plasmodium vivax Patients.
Jakhan J et al.
Acta Parasitologica, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
Comparing rare variants versus common in the pathogenesis of nonalcoholic fatty liver disease: a whole exome sequencing approach.
Bale G et al.
Journal of Gastroenterology and Hepatology, 2024
Multi-omics analyses of G6PD deficiency variants in Chinese population.
Ji H et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 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
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
Cytochrome P450 2D6 (CYP2D6) and glucose-6-phosphate dehydrogenase (G6PD) genetic variations in Thai vivax malaria patients: Implications for 8-aminoquinoline radical cure.
Chamchoy K et al.
Plos Neglected Tropical Diseases, 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
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
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
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
DALIA- a comprehensive resource of Disease Alleles in Arab population.
Vatsyayan A et al.
Plos One, 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
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
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
Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in the Shenzhen Population.
Gao J et al.
Human Heredity, 2020
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
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 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
A large, systematic molecular-genetic study of G6PD in Indian populations identifies a new non-synonymous variant and supports recent positive selection.
Sarkar S et al.
Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2010
Glucose-6-phosphate dehydrogenase mutations in Mon and Burmese of southern Myanmar.
Nuchprayoon I et al.
Journal of Human Genetics, 2008
Coexistence of five G6PD variants indicates ethnic complexity of Phuket islanders, Southern Thailand.
Ninokata A et al.
Journal of Human Genetics, 2006
Glucose-6-phosphate dehydrogenase deficiency & neonatal hyperbilirubinaemia.
Madan N et al.
The Indian Journal of Medical Research, 1989
Incidence of glucose-6-phosphate dehydrogenase deficiency in a hospital population of Delhi.
Madan N et al.
The Indian Journal of Medical Research, 1981