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Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
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Public Health Genomics Branch
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Precision Health Database
Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: May 09, 2024
. (Total: 63814 Documents since 2012)
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Application of precision medicine based on next-generation sequencing and immunohistochemistry in ovarian cancer: a real-world experience.
Yoo-Na Kim et al. J Gynecol Oncol 2023
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Interactions of SNPs in Folate Metabolism Related Genes on Prostate Cancer Aggressiveness in European Americans and African Americans.
Hui-Yi Lin et al. Cancers 2023 15(6)
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Epigenetic effects of folate and related B vitamins on brain health throughout life: Scientific substantiation and translation of the evidence for health improvement strategies.
A Caffrey et al. Nutrition bulletin 2023
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The Roles of MTRR and MTHFR Gene Polymorphisms in Colorectal Cancer Survival.
Wang Yu et al. Nutrients 2022 14(21)
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Folate Pathway Gene Single Nucleotide Polymorphisms and Neural Tube Defects: A Systematic Review and Meta-Analysis
AK Al Mekkawi et al, J Per Med, September 28, 2022
Dutch pharmacogenetics working group guideline for the gene-drug interaction of ABCG2, HLA-B and Allopurinol, and MTHFR, folic acid and methotrexate.
van der Pol Karel H et al. European journal of human genetics : EJHG 2022
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Dutch pharmacogenetics working group guideline for the gene-drug interaction of ABCG2, HLA-B and Allopurinol, and MTHFR, folic acid and methotrexate
KH van der Pol et al, EJHG, September 2, 2022
Periconception Red Blood Cell Folate and Offspring Congenital Heart Disease : Nested Case-Control and Mendelian Randomization Studies.
Chen Hongyan et al. Annals of internal medicine 2022
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The Diagnostic Potential of SHOX2 and RASSF1A DNA Methylation in Early Lung Adenocarcinoma.
Gao Hong et al. Frontiers in oncology 2022 12849024
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Identification of the interactions between specific genetic polymorphisms and nutrient intake associated with general and abdominal obesity in middle-aged adults.
Kwon Yu-Jin et al. Clinical nutrition (Edinburgh, Scotland) 2022 41(2) 543-551
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Combining genetic risk score with artificial neural network to predict the efficacy of folic acid therapy to hyperhomocysteinemia.
Chen Xiaorui et al. Scientific reports 2021 11(1) 21430
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Mechanisms of Genome Instability in the Fragile X-Related Disorders.
Hayward Bruce E et al. Genes 2021 12(10)
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Genetically predicted circulating concentrations of micronutrients and risk of colorectal cancer among individuals of European descent: a Mendelian randomization study.
Tsilidis Konstantinos K et al. The American journal of clinical nutrition 2021
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Lifestyle, behavioral, and dietary risk factors in relation to mammographic breast density in women at high risk for breast cancer.
Ahern Thomas P et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2021
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Folate System Gene Variant rs1801394 66A>G may have a Causal Role in Down Syndrome in the Eastern Indian Population.
Chatterjee Mahasweta et al. International journal of molecular and cellular medicine 2020 9(3) 215-224
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Guideline No. 410: Prevention, Screening, Diagnosis, and Pregnancy Management for Fetal Neural Tube Defects.
Wilson R Douglas et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2020 Nov
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A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions.
Garg Paras et al. American journal of human genetics 2020 Sep
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Folic acid supplementation in children with sickle cell disease: study protocol for a double-blind randomized cross-over trial.
Williams Brock A et al. Trials 2020 Jun 21(1) 593
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Implementing newborn screening for sickle cell disease as part of immunisation programmes in Nigeria: a feasibility study.
Nnodu Obiageli E et al. The Lancet. Haematology 2020 Jul 7(7) e534-e540
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Using pharmacogenetics to predict methotrexate response in rheumatoid arthritis patients.
Szostak Bartosz et al. Expert opinion on drug metabolism & toxicology 2020 Jun
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Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria.
Wei Yanping et al. Journal of neurology 2019 Oct 266(10) 2434-2439
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MTHFR Gene and Folic Acid
CDC, February 2020
Folic Acid Information
CDC, January 2020
CLINGEN Actionability Report for Phenylketonuria (PKU) - PAH
ClinGen Actionability Working Group
CLINGEN Actionability Report for Fabry Disease - GLA
ClinGen Actionability Working Group
CLINGEN Actionability Report for Homocystinuria due to Cystathionine Beta-Synthase Deficiency - CBS
ClinGen Actionability Working Group
Energy balance related lifestyle factors and risk of endometrial and colorectal cancer among individuals with lynch syndrome: a systematic review.
Coletta Adriana M et al. Familial cancer 2019 Jun
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Comparison of Nutrigenomics Technology Interface Tools for Consumers and Health Professionals: A Sequential Explanatory Mixed Methods Investigation.
Araujo Almeida Vanessa et al. Journal of medical Internet research 2019 Jun 21(6) e12580
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Machine Learning Models for Genetic Risk Assessment of Infants with Non-syndromic Orofacial Cleft.
Zhang Shi-Jian et al. Genomics, proteomics & bioinformatics 2018 16(5) 354-364
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Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.
Ahrens-Nicklas Rebecca C et al. Journal of inherited metabolic disease 2019 Jan 42(1) 140-146
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 09, 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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