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Public Health Genomics and Precision Health Knowledge Base (v7.3)
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Last data update: Apr 11, 2021
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Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.
Laurent Michaël R et al. Frontiers in endocrinology 2021 12641543
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DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)
LH Bean et al, Genetics on Medicine, March 31, 2021
[TREATMENT OF HOMOZYGOTES OF FAMILIAL HYPERCHOLESTEROLEMIA: RECOMMENDATIONS OF THE ISRAELI SOCIETY OF ATHEROSCLEROSIS].
Cohen Hofit et al. Harefuah 2021 160(3) 170-174
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Raising the bar for Randomized Trials involving Artificial Intelligence: The SPIRIT-AI and CONSORT-AI Guidelines.
Taylor Matthew et al. The Journal of investigative dermatology 2021
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The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
Black Graeme C et al. Orphanet journal of rare diseases 2021 16(1) 142
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DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)
MF Murray et al, Genetics in Medicine, March 2021
Consensus Statement on the Management of Duchenne Muscular Dystrophy in Saudi Arabia During the Coronavirus Disease 2019 Pandemic.
Bamaga Ahmed K et al. Frontiers in pediatrics 2021 9629549
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Interim Public Health Recommendations for Fully Vaccinated People
CDC, March 2021
Improving reporting standards for polygenic scores in risk prediction studies
H Wand et al, Nature, March 10, 2021
Chronic cor pulmonale in pulmonary sarcoidosis.
Battesti J P et al. Thorax 1978 33(1) 76-84
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Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.
Aronson Melyssa et al. Journal of medical genetics 2021
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The Role of Pharmacogenomics in Contemporary Cardiovascular Therapy: A position statement from the European Society of Cardiology Working Group on Cardiovascular Pharmacotherapy.
Magavern E F et al. European heart journal. Cardiovascular pharmacotherapy 2021
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Clinical Pharmacogenetics Implementation Consortium guidelines for cytochrome P450-2C19 (CYP2C19) genotype and clopidogrel therapy.
Scott S A et al. Clinical pharmacology and therapeutics 2011 90(2) 328-32
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Clinical pharmacogenetics implementation consortium guidelines for HLA-B genotype and abacavir dosing.
Martin M A et al. Clinical pharmacology and therapeutics 2012 91(4) 734-8
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Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for codeine therapy in the context of cytochrome P450 2D6 (CYP2D6) genotype.
Crews K R et al. Clinical pharmacology and therapeutics 2011 91(2) 321-6
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Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction of DPYD and fluoropyrimidines.
Lunenburg Carin A T C et al. European journal of human genetics : EJHG 2019 28(4) 508-517
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[Dihydropyrimidine déhydrogenase (DPD) deficiency screening and securing of fluoropyrimidine-based chemotherapies: Update and recommendations of the French GPCO-Unicancer and RNPGx networks].
Loriot Marie-Anne et al. Bulletin du cancer 2018 105(4) 397-407
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Pharmacogenomic information from CPIC and DPWG guidelines and its application on drug labels.
Yoon Deok Yong et al. Translational and clinical pharmacology 2021 28(4) 189-198
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Clinical Pharmacogenetics Implementation Consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing.
Relling M V et al. Clinical pharmacology and therapeutics 2011 89(3) 387-91
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Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and VKORC1 genotypes and warfarin dosing.
Johnson J A et al. Clinical pharmacology and therapeutics 2011 90(4) 625-9
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Recommendations from the European Commission Initiative on Breast Cancer for multigene testing to guide the use of adjuvant chemotherapy in patients with early breast cancer, hormone receptor positive, HER-2 negative.
Giorgi Rossi Paolo et al. British journal of cancer 2021 Feb
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Update: variable implementation of the 2018 UKCGG/UKGTN guidelines for breast cancer gene panel tests offered by UK genetics services.
Wedderburn Sarah et al. Journal of medical genetics 2021 Feb
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Pharmacogenetics Guidelines: Overview and Comparison of the DPWG, CPIC, CPNDS, and RNPGx Guidelines.
Abdullah-Koolmees Heshu et al. Frontiers in pharmacology 2020 11595219
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ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease.
James Paula D et al. Blood advances 2021 Jan 5(1) 280-300
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DECIDE-AI: new reporting guidelines to bridge the development-to-implementation gap in clinical artificial intelligence.
et al. Nature medicine 2021 Feb
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Focused Revision: ACMG practice resource: Genetic evaluation of short stature.
Mintz Cassie S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Jan
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Clinical Practice Guidelines for Prenatal Aneuploidy Screening and Diagnostic Testing from Korean Society of Maternal-Fetal Medicine: (2) Invasive Diagnostic Testing for Fetal Chromosomal Abnormalities.
Lee Ji Yeon et al. Journal of Korean medical science 2021 Jan 36(4) e26
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British Gynaecological Cancer Society/British Association of Gynaecological Pathology consensus for germline and tumor testing for BRCA 1/2 variants in ovarian cancer in the United Kingdom.
Sundar Sudha et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2021 Jan
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Recommendations for the safe, effective use of adaptive CDS in the US healthcare system: an AMIA position paper
C Petersen et al, JAMIA, January 2021
Recommendations for the safe, effective use of adaptive CDS in the US healthcare system: an AMIA position paper.
Petersen Carolyn et al. Journal of the American Medical Informatics Association : JAMIA 2021 Jan
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Page last reviewed:
Oct 1, 2020
Page last updated:
Apr 11, 2021
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