Note: Citation counts are approximate estimates based on Google Scholar, Semantic Scholar, and other databases (as of early 2026). Papers are organized by research category and historical significance. Links to PubMed, DOI, and free PDF versions (where available) are provided. Click the orange citation badges to see approximate citation numbers for each paper.
Carson PE, Flanagan CL, Ickes CE, Alving AS
Science. 1956;124(3220):484-485
The landmark paper that first identified G6PD deficiency as the cause of primaquine-induced hemolytic anemia. This discovery established G6PD deficiency as the first known human enzymopathy and opened the field of pharmacogenetics.
Beutler E, Yeh M, Fairbanks VF
Proc Natl Acad Sci USA. 1962;48:9-16
Ernest Beutler's groundbreaking study demonstrating X-chromosome inactivation mosaicism in human females, using G6PD deficiency as a marker. This work provided crucial evidence for the Lyon hypothesis in humans.
Cappellini MD, Fiorelli G
Lancet. 2008;371(9606):64-74
The most highly cited comprehensive review on G6PD deficiency, covering epidemiology, genetics, clinical manifestations, and management. Essential reading for understanding the full spectrum of the disease.
Luzzatto L, Ally M, Notaro R
Blood. 2020;136(11):1225-1240
The definitive modern review by Lucio Luzzatto, one of the foremost experts on G6PD. Covers molecular pathophysiology, clinical spectrum, diagnosis, and emerging therapies.
Beutler E
Blood. 1994;84(11):3613-3636
Ernest Beutler's comprehensive review summarizing decades of G6PD research. Covers biochemistry, genetics, clinical manifestations, and population genetics in extensive detail.
Beutler E
N Engl J Med. 1991;324(3):169-174
A highly influential clinical review in the New England Journal of Medicine, providing physicians with practical guidance on diagnosis and management of G6PD deficiency.
WHO Working Group
Bull World Health Organ. 1989;67(6):601-611
The foundational WHO classification of G6PD variants into Classes I-V based on enzyme activity and clinical severity. This classification system has been used globally for decades.
Au SW, Gover S, Lam VM, Adams MJ
Structure. 2000;8(3):293-303
The first crystal structure of human G6PD at 3Å resolution. Revealed the structural NADP+ binding site and explained why mutations near this site cause severe deficiency.
Hwang S, Mruk K, Engel JD, et al.
Proc Natl Acad Sci USA. 2021;118(4):e2022790118
Recent structural study using cryo-EM showing how Class I mutations cause long-range structural perturbations that destabilize the enzyme. Provides molecular basis for developing therapeutic stabilizers.
Hwang S, Mruk K, Rahighi S, et al.
Nat Commun. 2018;9(1):4045
Landmark study identifying AG1, a small-molecule activator that can restore activity to deficient G6PD variants. Opens new therapeutic possibilities for treating G6PD deficiency.
Minucci A, Moradkhani K, Hwang MJ, Zuppi C, Giardina B, Capoluongo E
Blood Cells Mol Dis. 2012;48(3):154-165
Comprehensive database of 186 G6PD mutations including 3D structural analysis, restriction site changes, and WHO classification. Essential reference for molecular diagnostics.
Vulliamy TJ, Luzzatto L
Blood Cells Mol Dis. 1997;23(2):302-313
Original comprehensive database of G6PD mutations with clinical and biochemical correlations. Foundation for subsequent mutation databases.
Gómez-Manzo S, Marcial-Quino J, Vanoye-Carlo A, et al.
Int J Mol Sci. 2016;17(12):2069
Updated mutation analysis with global distribution data and structural mapping of variants. Includes computational analysis of mutation effects.
Ruwende C, Khoo SC, Snow RW, Yates SN, Kwiatkowski D, et al.
Nature. 1995;376(6537):246-249
Landmark study demonstrating 46-58% protection against severe malaria in G6PD-deficient individuals. Provided strong evidence for the malaria protection hypothesis.
Ruwende C, Hill A
J Mol Med. 1998;76(8):581-588
Comprehensive review of the relationship between G6PD deficiency and malaria resistance, discussing evolutionary implications and mechanisms of protection.
Howes RE, Piel FB, Patil AP, Nyangiri OA, Gething PW, et al.
PLoS Med. 2012;9(11):e1001339
Global mapping study estimating 220 million males affected by G6PD deficiency worldwide. Essential for malaria elimination planning and primaquine deployment.
Nkhoma ET, Poole C, Vannappagari V, Hall SA, Beutler E
Blood Cells Mol Dis. 2009;42(3):267-278
Systematic review of G6PD prevalence across populations. Estimated 4.9% global prevalence with highest rates in Africa, Middle East, and Asia.
Kaplan M, Hammerman C
Semin Neonatol. 2002;7(2):121-128
Key paper establishing G6PD deficiency as an important cause of severe neonatal jaundice and kernicterus, with implications for newborn screening programs.
Kaplan M, Hammerman C
Semin Perinatol. 2004;28(5):356-364
Discusses the often-unrecognized risk of kernicterus in G6PD-deficient newborns, emphasizing the need for screening and early intervention.
Lam R, Ma IWY, Engel J
Front Pediatr. 2022;10:875877
Recent comprehensive review on the relationship between G6PD deficiency and neonatal hyperbilirubinemia, including discussion of gene variant heterogeneity.
Luzzatto L, Seneca E
Br J Haematol. 2014;164(4):469-480
Reviews G6PD deficiency as the prototype pharmacogenetic condition, discussing drugs to avoid and implications for antimalarial therapy.
World Health Organization
WHO Policy Brief. 2016
WHO guidance on G6PD testing before primaquine treatment for radical cure of vivax malaria, addressing the challenge of safe antimalarial deployment.
Richardson SR, O'Malley GF
Front Pharmacol. 2021;12:625374
Recent review of pharmacological considerations in G6PD deficiency, including oxidative drugs, rasburicase reactions, and emerging therapeutic approaches.
Shah SS, Diakite SAS, Traore K, et al.
Sci Rep. 2012;2:299
Development of a novel flow cytometric assay for G6PD deficiency that can detect heterozygous females, addressing a major diagnostic challenge.
Domingo GJ, Satyagraha AW, Sivber A, et al.
Malar J. 2014;13:70
Guidelines for standardizing G6PD enzyme activity assays to improve diagnostic accuracy across different laboratory settings.
Yang HC, Wu YH, Yen WC, et al.
Front Pharmacol. 2022;13:932154
Reviews G6PD regulation mechanisms and emerging roles in cancer, cardiovascular disease, and metabolic disorders beyond hemolytic anemia.
GBD 2021 G6PD Collaborators
Front Genet. 2025;16:1593728
Comprehensive analysis of the global disease burden from G6PD deficiency using Global Burden of Disease study data through 2021.
WHO G6PD Working Group
Blood. 2024
Updated WHO classification merging Classes II and III into a single Class B, simplifying clinical decision-making for primaquine use.
Watchko JF, Kaplan M, Stark AR, et al.
Early Hum Dev. 2016;97:57-60
Highlights the unmet need for novel treatments to prevent kernicterus in G6PD-deficient newborns, calling for therapeutic development.
Luzzatto L
Blood. 2008;111(1):16-24
Lucio Luzzatto's historical review tracing 50+ years of G6PD research from discovery to modern molecular understanding. Essential reading for context.