Last Posted: May 02, 2024
- Recommendations for pharmacogenetic testing in clinical practice guidelines in the US.
Daniel L Hertz et al. Am J Health Syst Pharm 2024 - A framework for the evaluation and reporting of incidental findings in clinical genomic testing.
Carolyn M Brown et al. Eur J Hum Genet 2024 - Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening.
Xuan-Hong To-Mai et al. Sci Rep 2024 14(1) 7461 - Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.
Wanna Chetruengchai et al. BMC Med Genomics 2024 17(1) 9 - Screening results and mutation frequency analysis of G6PD deficiency in 1,291,274 newborns in Huizhou, China: a twenty-year experience.
Zhiqiang Zhang et al. Ann Hematol 2023 - Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in Arab Countries: Insights from a Systematic Review.
Abdulaziz S Alangari et al. J Clin Med 2023 12(20) - A retrospective study on newborn screening for metabolic disorders.
Karam Chandrajit Singh et al. Bioinformation 2023 18(12) 1122-1125 - Screening of subclinical functional hemoglobin and red blood cell abnormalities among blood donors of Fayoum University Hospital in Egypt: Are RET-He, and IRF useful screening tools?
Salwa Bakr et al. Transfus Apher Sci 2023 103781 - Secondary Reporting of G6PD Deficiency on Newborn Screening.
Stephanie C Hoang et al. Int J Neonatal Screen 9(2) - Association of Glucose-6-Phosphate Dehydrogenase Deficiency With Outcomes in US Veterans With COVID-19.
Sarah H Elsea et al. JAMA network open 2023 3 (3) e235626 - Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.
Geck Renee C 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 Kamonwan et al. PLoS neglected tropical diseases 2022 12 (12) e0010986 - Clinician adherence to pharmacogenomics prescribing recommendations in clinical decision support alerts.
Nguyen Jenny Q et al. Journal of the American Medical Informatics Association : JAMIA 2022 - Prevalence of glucose-6-phosphate dehydrogenase deficiency in newborns in northeast Mexico.
Villarreal-Martínez Laura et al. American journal of perinatology 2022 - Distribution of HbS Allele and Haplotypes in a Multi-Ethnic Population of Guinea Bissau, West Africa: Implications for Public Health Screening.
Martella Maddalena et al. Frontiers in pediatrics 2022 10826262 - Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos Javier et al. NPJ genomic medicine 2022 7(1) 12 - Genotypic and phenotypic landscapes of 51 pharmacogenes derived from whole-genome sequencing in a Thai population.
Wankaew Natnicha et al. PloS one 2022 17(2) e0263621 - Genetic Variation of G6PD and CYP2D6: Clinical Implications on the Use of Primaquine for Elimination of Plasmodium vivax.
Stewart Alexandra G A et al. Frontiers in pharmacology 2021 12784909 - Prospective Newborn Screening for Sickle Cell Disease and Other Inherited Blood Disorders in Central Malawi.
Tegha Gerald et al. International journal of public health 2021 66629338 - Molecular classification of blood and bleeding disorder genes.
Baz Batoul et al. NPJ genomic medicine 2021 6(1) 62
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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.