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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: Apr 25, 2024
. (Total: 63675 Documents since 2012)
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Records 1 - 15 (of 15 Records)
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Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Daniz Kooshavar et al. Brain Commun 2024 6(2) fcae056
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Genetic Variants Associated with Cytomegalovirus Infection after Allogeneic Hematopoietic Cell Transplantation.
Casto Amanda et al. Blood 2021
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Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
Strand Janne et al. Frontiers in immunology 2020 111417
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Diagnosis of cytomegalovirus infection from clinical whole genome sequencing
N Ramchandar et al, Scientific Reports, July 3, 2020
Pharmacogenomics of drug-induced liver injury (DILI): Molecular biology to clinical applications.
Kaliyaperumal Kalaiyarasi et al. Journal of hepatology 2018 Oct 69(4) 948-957
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National Cytomegalovirus (CMV) Awareness Month
CDC, June 2019
A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children.
Shearer A Eliot et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jun
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HIV-1 remission following CCR5Δ32/Δ32 haematopoietic stem-cell transplantation.
Gupta Ravindra K et al. Nature 2019 Mar
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Concurrent Hearing, Genetic, and Cytomegalovirus Screening in Newborns, Taiwan.
Lu Chun-Yi et al. The Journal of pediatrics 2018 199144-150.e1
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Clinical Utility of Quantitative PCR for Chimerism and Engraftment Monitoring after Allogeneic Stem Cell Transplantation for Hematologic Malignancies.
Ahci Müberra et al. Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2017 Oct 23(10) 1658-1668
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Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.
Boudewyns An et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2018 Jul 39(6) 732-738
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Can Immunotherapy Succeed in Glioblastoma?
NCI, May 2018
Exome Sequencing Helps Crack Rare Disease Diagnosis-Clinical analyses of patientsÂ’ gene sequences are helping to provide answers where none were available before.
AB Keener, The Scientist, May 1, 2018
Congenital hearing loss.
Korver Anna M H et al. Nature reviews. Disease primers 2017 316094
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Newborn hearing screening programme in Belgium: a consensus recommendation on risk factors.
Vos Bénédicte et al. BMC pediatrics 2015 15(1) 160
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 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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