Last Posted: Nov 23, 2020
- Role of Non-Coding Variants in Brugada Syndrome.
Pérez-Agustín Adrian et al. International journal of molecular sciences 2020 Nov 21(22)
- Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh Roddy et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Sep
- Ajmaline Testing and the Brugada Syndrome.
Rizzo Alessandro et al. The American journal of cardiology 2020 Aug
- A Population-Based Registry of Patients With Inherited Cardiac Conditions and Resuscitated Cardiac Arrest.
Rucinski Cynthia et al. Journal of the American College of Cardiology 2020 Jun 75(21) 2698-2707
- Patients with Genetic Heart Disease and COVID-19: A Cardiac Society of Australia and New Zealand (CSANZ) Consensus Statement.
Gray Belinda et al. Heart, lung & circulation 2020 Apr
- The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations.
Pradat Pierre-François et al. Orphanet journal of rare diseases 2020 Apr 15(1) 90
- The Evolution of Gene-Guided Management of Inherited Arrhythmia Syndromes: Peering Beyond Monogenic Paradigms Towards Comprehensive Genomic Risk Scores.
Rowe Matthew K et al. Journal of cardiovascular electrophysiology 2020 Feb
- Epidemiology and Clinical Characteristics of Atrial Fibrillation in Patients with Inherited Heart Diseases.
Butters Alexandra et al. Journal of cardiovascular electrophysiology 2020 Jan
- Genetic Testing in Inherited Heart Diseases.
Ingles Jodie et al. Heart, lung & circulation 2019 Nov
- Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disorders.
Marschall Christoph et al. Cardiovascular diagnosis and therapy 2019 Oct 9(Suppl 2) S292-S298
- Genetics of Unexplained Sudden Cardiac Death in Adult Caucasian and African American Individuals Living in the State of Maryland
L Guo et al, MedRXIV, September 24, 2019
- Beyond the One Gene-One Disease Paradigm: Complex Genetics and Pleiotropy in Inheritable Cardiac Disorders
Cerrone Marina et al. Circulation 2019 140(7) 595-610
- Inherited Cardiac Arrhythmias and Channelopathies.
Kline Jessica et al. The Medical clinics of North America 2019 Sep 103(5) 809-820
- Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants.
Monasky Michelle M et al. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2019 Jul
- Brugada Syndrome: Progress in Genetics, Risk Stratification and Management.
Romero Jorge et al. Arrhythmia & electrophysiology review 2019 Mar 8(1) 19-27
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.