Last Posted: Dec 22, 2022
- Characterisation and long-term follow-up of children with Brugada syndrome: experience from a tertiary paediatric referral centre.
Fernandes Sara I L et al. Cardiology in the young 2022 1-6
- The SCN5A gene is a phenotype severity predictor in Brugada syndrome - a comprehensive literature review.
Deica Andreea Valentina et al. Medical principles and practice : international journal of the Kuwait University, Health Science Centre 2022
- Prediction of the Presence of Ventricular Fibrillation From a Brugada Electrocardiogram Using Artificial Intelligence.
Nakamura Tomofumi et al. Circulation journal : official journal of the Japanese Circulation Society 2022
- Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.
Chen Jia et al. Orphanet journal of rare diseases 2022 17(1) 394
- Screening, diagnosis and follow-up of Brugada syndrome in children: a Dutch expert consensus statement.
Peltenburg P J et al. Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 2022
- Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics.
Nafissi Navid A et al. Circulation. Genomic and precision medicine 2022 101161CIRCGEN121003675
- [Sudden cardiac death in young people and in adults: primary and contributing causes. The experience of the multidisciplinary network in Emilia-Romagna].
Leone Ornella et al. Giornale italiano di cardiologia (2006) 2022 23(3) 200-210
- Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
Barc Julien et al. Nature genetics 2022
- Prevalence of Inherited Cardiac Conditions in Pediatric First-Degree Relatives of Patients with Idiopathic Ventricular Fibrillation.
Brunet-Garcia Laia et al. Pediatric cardiology 2022
- Ventricular arrhythmia management in patients with genetic cardiomyopathies.
Sharif Zain I et al. Heart rhythm O2 2022 2(6Part B) 819-831
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 and other precision health discoveries into improved health outcomes related to rare diseases...more
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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.