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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: Apr 25, 2024
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Understanding what drives genetic study participation: Perspectives of patients, carers, and relatives.
Emilia M Swietlik et al. Pulm Circ 2024 14(1) e12346
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[Genetic counselling and testing in pulmonary arterial hypertension - A consensus statement on behalf of the International Consortium for Genetic Studies in PAH - French version].
D Montani et al. Rev Mal Respir 2023
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The cascade screening in heritable forms of pulmonary arterial hypertension.
Nidhy P Varghese et al. Pulm Circ 2023 13(3) e12259
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The role of aldehyde dehydrogenase 2 in cardiovascular disease.
Jian Zhang et al. Nature reviews. Cardiology 2023
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Calculating variant penetrance from family history of disease and average family size in population-scale data.
Spargo Thomas P et al. Genome medicine 2022 14(1) 141
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A descriptive investigation of clinical practice models used by cardiovascular genetic counselors in North America.
Rickman Allison F et al. Journal of genetic counseling 2022
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United States Pulmonary Hypertension Scientific Registry (USPHSR): Baseline Characteristics.
Badlam Jessica B et al. Chest 2020 Aug
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Genetics and other omics in pediatric pulmonary arterial hypertension.
Welch C L et al. Chest 2020 Jan
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Methodological quality of clinical practice guidelines for genetic testing in children: A systematic assessment using the appraisal of guidelines for research and evaluation II instrument.
Jiao Xue-Feng et al. Medicine 2019 Dec 98(52) e18521
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Molecular genetic framework underlying pulmonary arterial hypertension.
Southgate Laura et al. Nature reviews. Cardiology 2019 Aug
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Looking back and thinking forwards - 15 years of cardiology and cardiovascular research.
Kalman Jonathan M et al. Nature reviews. Cardiology 2019 Sep
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Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension.
Hiraide Takahiro et al. The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation 2019 Sep
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A Nationwide multicenter registry and biobank program for deep phenotyping of idiopathic and hereditary pulmonary arterial hypertension in Korea: the PAH platform for deep phenotyping in Korean subjects (PHOENIKS) cohort.
Jang Albert Youngwoo et al. Clinical hypertension 2019 2521
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CLINGEN Actionability Report for Primary pulmonary hypertension 1- BMPR2
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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Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.
Regalado Ellen S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 20(10) 1206-1215
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[Pulmonary arterial hypertension as leading manifestation of methylmalonic aciduria: clinical characteristics and gene testing in 15 cases].
Liu X Q et al. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2017 49(5) 768-777
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Current Status and Future Opportunities in Lung Precision Medicine Research with a Focus on Biomarkers. An American Thoracic Society/National Heart, Lung, and Blood Institute Research Statement.
Wu Ann Chen et al. American journal of respiratory and critical care medicine 2018 Dec 198(12) e116-e136
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Genetics in pulmonary arterial hypertension in a large homogeneous Japanese population.
Gamou S et al. Clinical genetics 2018 Jul 94(1) 70-80
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Recent advances in pulmonary arterial hypertension.
Wilkins Martin R et al. F1000Research 2018 7
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Pulmonary Hypertension Fact Sheet
CDC Information, 2018
Pulmonary Hypertension in a Large Cohort with Hereditary Hemorrhagic Telangiectasia.
Vorselaars Veronique et al. Respiration; international review of thoracic diseases 2017 94(3) 242-250
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Using Omics to Understand and Treat Pulmonary Vascular Disease.
Hemnes Anna R et al. Frontiers in medicine 2018 5157
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Precision medicine and personalising therapy in pulmonary hypertension: seeing the light from the dawn of a new era.
Savale Laurent et al. European respiratory review : an official journal of the European Respiratory Society 2018 Jun 27(148)
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A systematic review of genetic mutations in pulmonary arterial hypertension.
Garcia-Rivas Gerardo et al. BMC medical genetics 2017 18(1) 82
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Using omics approaches to understand pulmonary diseases.
Kan Mengyuan et al. Respiratory research 2017 Aug 18(1) 149
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Heritable pulmonary hypertension: from bench to bedside.
Girerd Barbara et al. European respiratory review : an official journal of the European Respiratory Society 2017 Sep 26(145)
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Genetics of pulmonary hypertension in the clinic.
Girerd Barbara et al. Current opinion in pulmonary medicine 2017 Jun
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Pulmonary arterial hypertension: Specialists' knowledge, practices, and attitudes of genetic counseling and genetic testing in the USA.
Jacher Joseph E et al. Pulmonary circulation 7(2) 372-383
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Genetic testing and blood biomarkers in paediatric pulmonary hypertension. Expert consensus statement on the diagnosis and treatment of paediatric pulmonary hypertension. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK.
Pattathu Joseph et al. Heart (British Cardiac Society) 2016 May 102 Suppl 2ii36-ii41
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 2024
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Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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