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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|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: May 18, 2024
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Genetic aspects of human prion diseases.
Appleby Brian S et al. Frontiers in neurology 2022 131003056
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Genetic counseling for prion disease: Updates and best practices.
Goldman Jill S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
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Genetic counseling for prion disease: Updates and best practice
JS Goldman, et al, Genetics in Medicine, July 12, 2022
Estimation of the number of inherited prion disease mutation carriers in the UK.
Corbie Rosie et al. European journal of human genetics : EJHG 2022
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Genetic prion disease: opportunities for early therapeutic intervention with rigorous pre-symptomatic trials.
Hermann Peter et al. Expert opinion on investigational drugs 2020 Oct
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Human Prion Disease Surveillance in Washington State, 2006-2017.
Sánchez-González Liliana et al. JAMA network open 2020 Oct 3(10) e2020690
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Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.
Jones Emma et al. The Lancet. Neurology 2020 Oct 19(10) 840-848
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Towards a treatment for genetic prion disease: trials and biomarkers.
Vallabh Sonia M et al. The Lancet. Neurology 2020 Apr 19(4) 361-368
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The Married Researchers Racing to Stop Prion Disease
S Minikel Vallabh et al, Scientific American, March 2020
Age at onset in genetic prion disease and the design of preventive clinical trials.
Minikel Eric Vallabh et al. Neurology 2019 93(2) e125-e134
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The Patient-Scientist's Mandate.
Vallabh Sonia M et al. The New England journal of medicine 2020 Jan 382(2) 107-109
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Prion disease incidence in the United States, 2003-2015.
Maddox Ryan A et al. Neurology 2019 Nov
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Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know.
Schwartz Mathias et al. Frontiers in genetics 2019 10895
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One womans race to defuse the genetic time bomb in her genes
A Regalado, Tech Review, July 23, 2018
Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing.
Clift Kristin et al. Prion 2016 Nov 10(6) 502-506
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Quantifying prion disease penetrance using large population control cohorts.
Minikel Eric Vallabh, et al. Science translational medicine 2016 1 0. (322) 322ra9
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Predictive testing for inherited prion disease: report of 22 years experience.
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 18, 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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