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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)
Primary Immune Deficiency Diseases
Last data update: May 03, 2024
. (Total: 63769 Documents since 2012)
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Records 1 - 13 (of 13 Records)
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Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
Daniel Greene et al. Nature medicine 2023
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Burden of Rare Genetic Variants in Spontaneous Coronary Artery Dissection With High-risk Features.
Wang Yu et al. JAMA cardiology 2022
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Role of Clinical Genetic Testing in the Management of Aortopathies.
Harris Stephanie L et al. Current cardiology reports 2021 Jan 23(2) 10
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Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection.
Braverman Alan C et al. JAMA cardiology 2020 Oct
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Marfan syndrome and related connective tissue disorders in the current era in Switzerland in 103 patients: medical and surgical management and impact of genetic testing.
Bombardieri Elisa et al. Swiss medical weekly 2020 Mar 150w20189
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CLINGEN Actionability Report for Familial thoracic aortic aneurysms and dissections (FTAAD)- FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYLK, MYH11
ClinGen Actionability Working Group
CLINGEN Actionability Report for Arterial tortuosity syndrome - SLC2A10
ClinGen Actionability Working Group
CLINGEN Actionability Report for Loeys-Dietz Syndrome - SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
ClinGen Actionability Working Group
Prospective Cardiovascular Genetics Evaluation in Spontaneous Coronary Artery Dissection.
Kaadan M Ihsan et al. Circulation. Genomic and precision medicine 2018 11(4) e001933
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Systematic review of Quality of Life in persons with Hereditary Thoracic Aortic Aneurysm and Dissection diagnoses.
Velvin Gry et al. Clinical genetics 2019 Feb
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Marfan Syndrome and Loeys-Dietz Syndrome in Children: A Multidisciplinary Team Experience.
Manchola-Linero Alejandra et al. Revista espanola de cardiologia (English ed.) 2018 Jul 71(7) 585-587
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Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center.
Hicks Kelli L et al. Journal of vascular surgery 2018 Mar
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A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling.
Hitchcock Emma et al. Journal of genetic counseling 2016 Oct
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 03, 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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