Associated Papers
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 2022
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
The role of sodium channels in sudden unexpected death in pediatrics.
Rochtus AM et al.
Molecular Genetics & Genomic Medicine, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.
Shimizu W et al.
Jama Cardiology, 2019
Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.
Son MJ et al.
Journal of Korean Medical Science, 2018
Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.
Ioakeimidis NS et al.
Journal of Biological Research (thessalonike, Greece), 2017
Differential methylation of lncRNA KCNQ1OT1 promoter polymorphism was associated with symptomatic cardiac long QT.
Coto E et al.
Epigenomics, 2017
Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote.
Fujii Y et al.
Journal of Cardiology, 2017
Non optical semi-conductor next generation sequencing of the main cardiac QT-interval duration genes in pooled DNA samples.
Gómez J et al.
Journal of Cardiovascular Translational Research, 2014
Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data.
Andreasen C et al.
The Canadian Journal of Cardiology, 2013
Cardiac ion channelopathies and the sudden infant death syndrome.
Wilders R
Isrn Cardiology, 2012
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger JD et al.
Heart Rhythm, 2010
Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis.
Millat G et al.
Clinical Biochemistry, 2009
Genetic evaluation of familial cardiomyopathy.
Judge DP et al.
Journal of Cardiovascular Translational Research, 2008