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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: May 18, 2024
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Yield of genetic evaluation in non-syndromic pediatric moyamoya patients.
Anna L Slingerland et al. Childs Nerv Syst 2023
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Genetic Analysis of Cardiac Syncope-Related Genes in Korean Patients with Recurrent Neurally Mediated Syncope.
Lee Sung Ho et al. Journal of cardiovascular development and disease 2022 9(8)
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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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Genetics of diaphragmatic hernia.
Schreiner Yannick et al. European journal of human genetics : EJHG 2021
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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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Molecular genetic framework underlying pulmonary arterial hypertension.
Southgate Laura et al. Nature reviews. Cardiology 2019 Aug
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Precision medicine: The future of diagnostic approach to pulmonary hypertension?
Kedzierski Piotr et al. Anatolian journal of cardiology 2019 Sep 22(4) 168-171
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Definition, clinical classification and initial diagnosis of pulmonary hypertension: Updated recommendations from the Cologne Consensus Conference 2018.
Kovacs Gabor et al. International journal of cardiology 2018 Dec 272S11-19
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CLINGEN Actionability Report for Thrombophilia due to protein S deficiency - PROS1
ClinGen Actionability Working Group
CLINGEN Actionability Report for Thrombophilia due to protein C deficiency - PROC
ClinGen Actionability Working Group
CLINGEN Actionability Report for Primary pulmonary hypertension 1- BMPR2
ClinGen Actionability Working Group
CLINGEN Actionability Report for Arterial tortuosity syndrome - SLC2A10
ClinGen Actionability Working Group
[Heterogeneous phenotypes, genotypes, treatment and prevention of 1 003 patients with methylmalonic acidemia in the mainland of China].
Liu Y et al. Zhonghua er ke za zhi = Chinese journal of pediatrics 2018 Jun 56(6) 414-420
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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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Hospitalizations with hereditary hemorrhagic telangiectasia and pulmonary hypertension in the United States from 2000 to 2014.
Harder Eileen M et al. Respiratory medicine 2019 Feb 14726-30
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Can You Inherit Pulmonary Hypertension? Heres What You Should Know
Cleveland Clinic, December 10, 2018
Using clinical and genetic data to predict pulmonary hypertension in bronchopulmonary dysplasia.
Trittmann J K et al. Acta paediatrica (Oslo, Norway : 1992) 2018 Sep
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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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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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Precision medicine in pulmonary hypertension: Start with the end (point).
Mathai Stephen C et al. International journal of cardiology 2018 Apr 257339-340
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Pathways to pulmonary hypertension in sickle cell disease: the search for prevention and early intervention.
Shilo Natalie R et al. Expert review of hematology 2017 10(10) 875-890
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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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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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Genetics of Sickle Cell-Associated Cardiovascular Disease: An Expert Review with Lessons Learned in Africa.
Geard Amy et al. Omics : a journal of integrative biology 2016 Oct 20(10) 581-592
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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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Genetic counselling in a national referral centre for pulmonary hypertension.
Girerd Barbara et al. The European respiratory journal 2015 Dec
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 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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