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Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
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Medrxiv : the Preprint Server for Health Sciences, 2025
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Opportunities and Challenges of Population Pharmacogenomics.
Zhou Y et al.
Annals of Human Genetics, 2025
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
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Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
35181665 (PubMed )
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Investigating effect of mutation on structure and function of G6PD enzyme: a comparative molecular dynamics simulation study.
Rani S et al.
Peerj, 2022
Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population.
Malik S et al.
Human Genomics, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
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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
Favism and Glucose-6-Phosphate Dehydrogenase Deficiency.
Luzzatto L et al.
The New England Journal of Medicine, 2018
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28471432 (PubMed )
Supplement: gim201750x2.xlsx › TableS2C
Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in the Arab World.
Doss CG et al.
Scientific Reports, 2016
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
Five different glucose-6-phophate [correction phosphate]dehydrogenase (G6PD) variants found among 11 G6PD-deficient persons in Flores Island, Indonesia.
Matsuoka H et al.
Journal of Human Genetics, 2003
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