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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: Mar 28, 2024
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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
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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
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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)
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A retrospective study on newborn screening for metabolic disorders.
Karam Chandrajit Singh et al. Bioinformation 2023 18(12) 1122-1125
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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
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Secondary Reporting of G6PD Deficiency on Newborn Screening.
Stephanie C Hoang et al. Int J Neonatal Screen 9(2)
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Association of Glucose-6-Phosphate Dehydrogenase Deficiency With Outcomes in US Veterans With COVID-19.
Sarah H Elsea et al. JAMA network open 2023 6(3) e235626
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Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.
Geck Renee C et al. American journal of human genetics 2023
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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
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Prevalence of glucose-6-phosphate dehydrogenase deficiency in newborns in northeast Mexico.
Villarreal-Martínez Laura et al. American journal of perinatology 2022
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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
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Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos Javier et al. NPJ genomic medicine 2022 7(1) 12
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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
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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
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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
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Molecular classification of blood and bleeding disorder genes.
Baz Batoul et al. NPJ genomic medicine 2021 6(1) 62
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Glucose-6-phosphate dehydrogenase activity in individuals with and without malaria: Analysis of clinical trial, cross-sectional and case-control data from Bangladesh.
Ley Benedikt et al. PLoS medicine 2021 18(4) e1003576
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Economic evaluation of point of care universal newborn screening for glucose-6-Phosphate dehydrogenase deficiency in United States.
Vidavalur Ramesh et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2021 1-9
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Pharmacogenomics of COVID-19 therapies.
Takahashi Takuto et al. NPJ genomic medicine 2020 Aug 5(1) 35
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Patients dispensed medications with actionable pharmacogenomic biomarkers: rates and characteristics.
Liu Dianbo et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Jan
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Surveillance for sickle cell disease, United Republic of Tanzania.
Ambrose Emmanuela E et al. Bulletin of the World Health Organization 2020 Dec 98(12) 859-868
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Attitudes and impact among people with abnormal premarital screening test results in Muscat governorate's primary healthcare centers in 2018.
Al Zeedi Manar Al Sanaa Ali et al. Journal of community genetics 2020 Nov
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Projected utility of pharmacogenomic testing among individuals hospitalized with COVID-19: A retrospective multicenter study in the United States.
Stevenson James M et al. Clinical and translational science 2020 Oct
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Optimizing G6PD testing for Plasmodium vivax case management: why sex, counseling, and community engagement matter.
Chu Cindy S et al. Wellcome open research 2020 521
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G6PD Deficiency Overrepresented Among Pediatric COVID-19 Cases in One Saudi Children Hospital
M AL-Aamri et al, MEDRXIV, July 13, 2020
PHARMACOGENOMICS OF ANTI-CANCER DRUGS: personalizing the CHOICE AND dose TO managE drug response.
Carr Daniel F et al. British journal of clinical pharmacology 2020 Jun
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G6PD variant distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19
J Da Rocha et al, MEDRXIV, June 2, 2020
Evaluation of the Diagnostic Accuracy of the CareStart™ Glucose-6-Phosphate Dehydrogenase Deficiency Rapid Diagnostic Test among Chinese Newborns.
Yu Fengting et al. Journal of tropical pediatrics 2020 Feb
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Newborn Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Glucose-6-Phosphate Dehydrogenase Deficiency for Improving Health Care in India.
Verma Jyotsna et al. Journal of pediatric intensive care 2020 Mar 9(1) 40-44
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Newborn Screening for Five Conditions in a Tertiary Care Government Hospital in Bengaluru, South India-Three Years Experience.
Kommalur Anitha et al. Journal of tropical pediatrics 2019 Dec
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Page last reviewed:
Feb 1, 2024
Page last updated:
Mar 28, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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