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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 25, 2024
. (Total: 63675 Documents since 2012)
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Records 1 - 21 (of 21 Records)
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Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome.
Pritesh Jain et al. Transl Psychiatry 2023 13(1) 69
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Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis.
Lisa Sniderman King et al. Mol Genet Metab 139(1) 107565
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Symptoms and ECG changes precede sudden cardiac death in hypertrophic cardiomyopathy-A nationwide study among the young in Sweden.
Börjesson Erik et al. PloS one 2022 17(9) e0273567
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Gender Related Differences in the Clinical Presentation of Hypertrophic Cardiomyopathy-An Analysis from the SILICOFCM Database.
Preveden Andrej et al. Medicina (Kaunas, Lithuania) 2022 58(2)
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Ajmaline Testing and the Brugada Syndrome.
Rizzo Alessandro et al. The American journal of cardiology 2020 Aug
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Pheochromocytoma Due to TMEM127 Mutation - The Importance of Genetic Testing for Clinical Decision.
Paredes Sílvia Cristina de Sousa et al. European endocrinology 2020 Apr 16(1) 72-74
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The challenges of diagnosis and management of Gitelman syndrome.
Urwin Stephanie et al. Clinical endocrinology 2019 Oct
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Long QT Syndrome: Genetics and Future Perspective.
Wallace Eimear et al. Pediatric cardiology 2019 Aug
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AI may help to spot heart problems
BBC News, August 2, 2019
CLINGEN Actionability Report for Multiple Endocrine Neoplasia IIA, Familial Medullary Thyroid Cancer - RET
ClinGen Actionability Working Group
CLINGEN Actionability Report for Familial Hypertrophic Cardiomyopathy - ACTC1, CSRP3, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TNNT2, TPM1
ClinGen Actionability Working Group
CLINGEN Actionability Report for Hemochromatosis, Type 1-HFE
ClinGen Actionability Working Group
CLINGEN Actionability Report for Emery-Dreifuss Muscular Dystrophy (AD, XL) - LMNA, EMD, FHL1
ClinGen Actionability Working Group
CLINGEN Actionability Report for Paragangliomas 1, 2, 3, 4, 5; Pheochromocytoma- MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127
ClinGen Actionability Working Group
CLINGEN Actionability Report for Arrhythmogenic Right Ventricular Dysplasia - PKP2, DSP, DSC2, TMEM43, DSG2
ClinGen Actionability Working Group
Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma.
Muth A et al. Journal of internal medicine 2018 Dec
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Keeping the Beat - Researchers Find New Genetic Variants Linked to Atrial Fibrillation, Suggesting New Treatment Targets
S Ktori, GEN News, October 25, 2018
Arrhythmogenic Right Ventricular Cardiomyopathy: A Review of Living and Deceased Probands.
Blusztein David I et al. Heart, lung & circulation 2018 Aug
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Pulmonary Hypertension Fact Sheet
CDC Information, 2018
Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Stewart Douglas R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul 20(7) 671-682
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Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience.
Mak C M et al. Hong Kong medical journal = Xianggang yi xue za zhi 2018 Mar
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 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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