Last Posted: Nov 21, 2019
- 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
- Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations.
Kazachkov Mikhail et al. Respiratory medicine 2018 14137-46
- 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
- Recent understanding of clinical sequencing and gene-based risk stratification in inherited primary arrhythmia syndrome.
Aiba Takeshi et al. Journal of cardiology 2019 May 73(5) 335-342
- Response by Wilde and Gollob to Letter Regarding Article, "Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome".
Wilde Arthur A M et al. Circulation 2019 Apr 139(14) 1760-1761
- Genetic interpretation and clinical translation of minor genes related to Brugada syndrome.
Campuzano Oscar et al. Human mutation 2019 Feb
- Sudden cardiac arrest in patients without overt heart disease: limited value of next generation sequencing.
Stepien-Wojno Malgorzata et al. Polish archives of internal medicine 2018 Nov
- SCN5A variants in Brugada syndrome: True, true false or false true.
Walsh Roddy T et al. Journal of cardiovascular electrophysiology 2018 Oct
- Electrocardiographic Assessment and Genetic Analysis in Neonates: a Current Topic of Discussion.
Sarquella-Brugada Georgia et al. Current cardiology reviews 2018 Sep
- CLINGEN Actionability Report for Brugada Syndrome - SCN5A
ClinGen Actionability Working Group
- Management of Ventricular Arrhythmias and Sudden Cardiac Death Risk Associated With Cardiac Channelopathies.
Al-Khatib Sana M et al. JAMA cardiology 2018 Jun
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
Quick Links to Other Resources
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.