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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)
Heart, Lung, Blood and Sleep Disorders
Last data update: Apr 18, 2024
. (Total: 63623 Documents since 2012)
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Invited editorial: Q and A on hereditary lung cancer.
Benusiglio Patrick R et al. Respiratory medicine and research 2022 81100881
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An Italian expert consensus on the management of alpha1-antitrypsin deficiency: a comprehensive set of algorithms.
Balbi Bruno et al. Panminerva medica 2022
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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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Differential Genomic Profile in TERT, DSP, and FAM13A Between COPD Patients With Emphysema, IPF, and CPFE Syndrome.
Guzmán-Vargas Javier et al. Frontiers in medicine 2021 8725144
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Relative contributions of family history and a polygenic risk score on COPD and related outcomes: COPDGene and ECLIPSE studies.
Moll Matthew et al. BMJ open respiratory research 2020 Nov 7(1)
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Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts.
Moll Matthew et al. The Lancet. Respiratory medicine 2020 8(7) 696-708
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New Patient-Centric Approaches to the Management of Alpha-1 Antitrypsin Deficiency.
Chorostowska-Wynimko Joanna et al. International journal of chronic obstructive pulmonary disease 2020 15345-355
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CLINGEN Actionability Report for Alpha-1 Antitrypsin Deficiency - SERPINA1
ClinGen Actionability Working Group
CLINGEN Actionability Report for Arterial tortuosity syndrome - SLC2A10
ClinGen Actionability Working Group
[Selection of lung transplant candidates in France in 2019].
Falque L et al. Revue des maladies respiratoires 2019 Apr 36(4) 508-518
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Alpha-1 antitrypsin deficiency: outstanding questions and future directions.
Torres-Durán María et al. Orphanet journal of rare diseases 2018 13(1) 114
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Identifying Alpha-1 Antitrypsin Deficiency Based on Computed Tomography Evidence of Emphysema.
Miskoff Jeffrey A et al. Cureus 2019 Jan 11(1) e3971
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Pharmacogenomics of chronic obstructive pulmonary disease.
Hersh Craig P et al. Expert review of respiratory medicine 2019 Mar
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Pulmonary Hypertension Fact Sheet
CDC Information, 2018
Long-term clinical outcomes following treatment with alpha 1-proteinase inhibitor for COPD associated with alpha-1 antitrypsin deficiency: a look at the evidence.
Rahaghi Franck F et al. Respiratory research 2017 May 18(1) 105
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Diagnostic utility of telomere length testing in a hospital-based setting.
Alder Jonathan K et al. Proceedings of the National Academy of Sciences of the United States of America 2018 Feb
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Diagnosing alpha-1 antitrypsin deficiency: the first step in precision medicine.
Hersh Craig P et al. F1000Research 2017 62049
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European Respiratory Society statement: diagnosis and treatment of pulmonary disease in ?1-antitrypsin deficiency.
Miravitlles Marc et al. The European respiratory journal 2017 Nov 50(5)
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Chronic Obstructive Pulmonary Disease Phenotypes: Implications for Care.
Mirza Shireen et al. Mayo Clinic proceedings 2017 Jul 92(7) 1104-1112
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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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The impact of smoke exposure on the clinical phenotype of alpha-1 antitrypsin deficiency in ireland: exploiting a national registry to understand a rare disease.
O'Brien M Emmet et al. COPD 2015 May 12 Suppl 12-9
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The national alpha-1 antitrypsin deficiency registry in poland.
Chorostowska-Wynimko Joanna et al. COPD 2015 May 12 Suppl 122-6
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Italian registry of patients with alpha-1 antitrypsin deficiency: general data and quality of life evaluation.
Luisetti Maurizio et al. COPD 2015 May 12 Suppl 152-7
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 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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