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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Public Health Genomics Branch
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: May 16, 2024
. (Total: 63877 Documents since 2012)
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Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.
Ali AlMail et al. NPJ Genom Med 2024 9(1) 27
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Association of sociodemographic and clinical factors with the quality of life of Brazilian individuals with Neurofibromatosis type 1: a cross-sectional study.
Natália Parenti Bicudo et al. An Bras Dermatol 2024
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Dental caries in the permanent dentition and health-related quality of life among children and adolescents with sickle cell disease.
Vera Lúcia Duarte da Costa Mendes et al. Cien Saude Colet 2024 29(3) e06752023
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Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and Tanzania.
Nchangwi Syntia Munung et al. Eur J Hum Genet 2024
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An update review of new therapies in sickle cell disease: the prospects for drug combinations.
Sanne Lugthart et al. Expert Opin Pharmacother 2024
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The psychosocial impact of haemophilia from patients' and caregivers' point of view: The results of an Italian survey.
Arianna Fornari et al. Haemophilia 2023
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Pain Frequency and Health Care Utilization Patterns in Women with Sickle Cell Disease Experiencing Menstruation-Associated Pain Crises.
Catherine Segbefia et al. J Womens Health (Larchmt) 2023
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Pharmacogenomics in clinical trials: an overview.
Rita Nogueiras-Álvarez et al. Front Pharmacol 2023 141247088
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CYP2D6-guided opioid therapy for adults with cancer pain: a randomized implementation clinical trial.
Scott A Mosley et al. Pharmacotherapy 2023
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The Value of Pharmacogenomics for White and Indigenous Americans after Kidney Transplantation.
Alexandra Brady et al. Pharmacy (Basel) 2023 11(4)
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Genome-wide association study on pharmacological outcomes of musculoskeletal pain in UK Biobank.
Song Li et al. Pharmacogenomics J 2023
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Engaging Students in Pharmacogenetics: Patient Case Studies Using the PharmGKB Website.
Andrea M Mosquera et al. CourseSource 2023 10
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Clinical Profiles of Children With Sickle Cell Anaemia Presenting With Acute Clinical Events: A Single-Center Study.
Anwesha Singh et al. Cureus 2023 15(5) e39008
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General v. specific vulnerabilities: polygenic risk scores and higher-order psychopathology dimensions in the Adolescent Brain Cognitive Development (ABCD) Study.
Monika A Waszczuk et al. Psychol Med 2023 53(5) 1937-1946
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Knowledge, attitudes and experiences of genetic testing for autism spectrum disorders among caregivers, patients, and health providers: A systematic review.
Meng Zhou et al. World J Psychiatry 2023 13(5) 247-261
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Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.
Rowida Almomani et al. Int J Mol Sci 2023 24(9)
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Comparison of targeted vs. expanded pharmacogenomic testing: What are we missing?
Mason Chambal et al. Journal of the American Pharmacists Association : JAPhA 2023
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Treating Chronic Pain in Sickle Cell Disease - The Need for a Biopsychosocial Model.
Janet E Childerhose et al. N Engl J Med 2023 388(15) 1349-1351
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Iron Status in Sickle Cell Anemia: Deficiency or Overload?
Varsha P Patel et al. Cureus 2023 15(2) e35310
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Individuals with a Family History of Colorectal Cancer Warrant Tailored Interventions to Address Patient-Reported Barriers to Screening.
Shailavi Jain et al. Clinical and translational gastroenterology 2023
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Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities to transform the care of people with hemophilia.
Duc Q Tran et al. Expert review of hematology 2023 16(sup1) 19-37
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Predicting Pain in People With Sickle Cell Disease in the Day Hospital Using the Commercial Wearable Apple Watch: Feasibility Study.
Rebecca Sofia Stojancic et al. JMIR formative research 2023 7e45355
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Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.
Andreas C Themistocleous et al. Brain communications 2023 5(2) fcad037
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The Clinical Picture and Fecundity of Primary and Recurrent Ovarian Endometriosis with Family History: A Retrospective Analysis.
Bingning Xu et al. Journal of clinical medicine 2023 12(5)
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Could interventions on physical activity mitigate genomic liability for obesity? Applying the health disparity framework in genetically informed studies.
Moritz Herle et al. European journal of epidemiology 2023
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Palliative team involvement in end-of-life care for Jewish and Muslim children in Jerusalem: A unique clinical and cultural context.
Avram R Shack et al. Palliative & supportive care 2023 1-6
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Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry's disease.
Peng Gou et al. Frontiers in pediatrics 2023 111057014
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Inherited causes of exocrine pancreatic insufficiency in pediatric patients: clinical presentation and laboratory testing.
Tatiana N Yuzyuk et al. Critical reviews in clinical laboratory sciences 2023 1-16
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Brazilian registry of patients with porphyria: REBRAPPO study.
Paulo Victor Sgobbi Souza et al. Orphanet journal of rare diseases 2023 18(1) 49
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Lived Experiences of Adults with Sickle Cell Disease: A Qualitative Study, Dar es Salaam, Tanzania.
Dickson Ally Mkoka et al. The East African health research journal 2023 6(2) 189-195
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 16, 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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