The J-wave syndromes (JWSs), consisting of the Brugada syndrome (BrS) and early
repolarization syndrome (ERS), have captured the interest of the cardiology community over …

Merriam-Webster's online dictionary defines purgatory as “an intermediate state after death
for expiatory purification” or more specifically as “a place or state of punishment wherein …

Background—A 2% to 5% background rate of rare SCN5A nonsynonymous single
nucleotide variants (nsSNVs) among healthy individuals confounds clinical genetic testing …

Purpose Accurate discrimination of benign and pathogenic rare variation remains a priority
for clinical genome interpretation. State-of-the-art machine learning variant prioritization …

Sudden cardiac death in the young is a very traumatic event that occurs often in apparently
healthy individuals without an explainable cause of death after a comprehensive medico …

It is important to detect signals of abrupt changes in adverse event reporting in order to
notice public safety concerns and take prompt action, especially for vaccines under national …

Despite the abundance of genotype-phenotype association studies, the resulting
association outcomes often lack robustness and interpretations. To address these …

Despite the overrepresentation of Kv7. 1 mutations among patients with a robust diagnosis
of long QT syndrome (LQTS), a background rate of innocuous Kv7. 1 missense variants …

MPS III is an autosomal recessive lysosomal storage disease caused mainly by missense
variants in the NAGLU, GNS, HGSNAT, and SGSH genes. The pathogenicity interpretation …

Aim: To explore the views of clinical and molecular geneticists on the inclusion of disorders
and specific pathogenic mutations into expanded carrier screening (ECS) tests for …