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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)
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Last data update: Mar 28, 2024
. (Total: 63390 Documents since 2012)
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Genetic testing of Behçet's disease using next-generation sequencing to identify monogenic mimics and HLA-B*51.
Alice Burleigh et al. Rheumatology (Oxford) 2023
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Prediction of More Severe MEFV Gene Mutations in Childhood.
Günes-Yilmaz Seviye et al. Turkish archives of pediatrics 2022 56(6) 610-617
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Prevalence of Alpha-1 Antitrypsin Deficiency, Self-reported Behavior Change, and Healthcare Engagement Among Direct-to-Consumer Recipients of a Personalized Genetic Risk Report.
Ashenhurst James R et al. Chest 2021
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Familial risks between giant cell arteritis and Takayasu arteritis and other autoimmune diseases in the population of Sweden.
Thomsen Hauke et al. Scientific reports 2020 10(1) 20887
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Gene variants and treatment outcomes in antineutrophil cytoplasmic antibody-associated vasculitis.
Hessels Arno C et al. The pharmacogenomics journal 2020 Jul
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CLINGEN Actionability Report for Alpha-1 Antitrypsin Deficiency - SERPINA1
ClinGen Actionability Working Group
CLINGEN Actionability Report for WAS-related disorders-WAS
ClinGen Actionability Working Group
Biomarkers for Kawasaki Disease: Clinical Utility and the Challenges Ahead.
Chaudhary Himanshi et al. Frontiers in pediatrics 2019 7242
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European consensus-based recommendations for diagnosis and treatment of immunoglobulin A vasculitis-the SHARE initiative.
Ozen Seza et al. Rheumatology (Oxford, England) 2019 Mar
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The role of genetics and epigenetics in rheumatic diseases: are they really a target to be aimed at?
Kato Masaru et al. Rheumatology international 2018 Apr
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A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.
Rama Mélanie et al. European journal of human genetics : EJHG 2018 Apr
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Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Omoyinmi Ebun et al. PloS one 2017 12(7) e0181874
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Alpha-1 Antitrypsin Deficiency: Current Perspective from Genetics to Diagnosis and Therapeutic Approaches.
Santangelo Simona et al. Current medicinal chemistry 2017 24(1) 65-90
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Familial risk of Sjögren's syndrome and co-aggregation of autoimmune diseases in affected families: A nationwide population study.
Kuo Chang-Fu et al. 2015 May 4.
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Page last reviewed:
Feb 1, 2024
Page last updated:
Mar 28, 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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