Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young

A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family

(2019) Lijian Xie et al.   European Journal of Medical Genetics

RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling

(2018) Maarten M. G. van den Hoogenhof et al.   CIRCULATION

Exome analysis in 34 sudden unexplained death (SUD) victims mainly identified variants in channelopathy-associated genes

(2018) Jacqueline Neubauer et al.   INTERNATIONAL JOURNAL OF LEGAL MEDICINE

Mechanical Stretching Simulates Cardiac Physiology and Pathology through Mechanosensor Piezo1

(2018) Tzyy-Yue Wong et al.   Journal of Clinical Medicine

Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases

(2017) Jacqueline Neubauer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome

(2017) Najim Lahrouchi et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Piezo1 channels sense whole body physical activity to reset cardiovascular homeostasis and enhance performance

(2017) Baptiste Rode et al.   Nature Communications

TECRL , a new life‐threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT

(2016) Harsha D Devalla et al.   EMBO Molecular Medicine

Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting

(2016) Sofie Lindgren Christiansen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Postmortem genetic analysis of sudden unexplained death syndrome under 50 years of age: A next-generation sequencing study

(2016) Yukiko Hata et al.   HEART RHYTHM

Sudden infant death syndrome caused by cardiac arrhythmias: only a matter of genes encoding ion channels?

(2016) Georgia Sarquella-Brugada et al.   INTERNATIONAL JOURNAL OF LEGAL MEDICINE

Molecular and Functional Characterization of RareCACNA1CVariants in Sudden Unexplained Death in the Young

(2016) Brittan S. Sutphin et al.   Congenital Heart Disease

Genetics of Sudden Cardiac Death

(2015) C. R. Bezzina et al.   CIRCULATION RESEARCH

Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy

(2015) L.R. Lopes et al.   European Journal of Medical Genetics

Massive parallel sequencing applied to the molecular autopsy in sudden cardiac death in the young

(2015) M. Brion et al.   Forensic Science International-Genetics

Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach

(2015) M Wilhelm et al.   SWISS MEDICAL WEEKLY

OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency

(2015) Steven Marston et al.   PLoS One

AKAP9 Is a Genetic Modifier of Congenital Long-QT Syndrome Type 1

(2014) C. P. de Villiers et al.   Circulation-Cardiovascular Genetics

Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders

(2014) Maria Brion et al.   ELECTROPHORESIS

Arrhythmogenic cardiomyopathy and Brugada syndrome: Diseases of the connexome

(2014) Esperanza Agullo-Pascual et al.   FEBS LETTERS

Exome analysis–based molecular autopsy in cases of sudden unexplained death in the young

(2014) Richard D. Bagnall et al.   HEART RHYTHM

An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data

(2014) Renjie Tan et al.   HUMAN MUTATION

Desmosomes and the sodium channel complex: Implications for arrhythmogenic cardiomyopathy and Brugada syndrome

(2014) Marina Cerrone et al.   TRENDS IN CARDIOVASCULAR MEDICINE

Whole Exome Sequencing Identifies a Causal RBM20 Mutation in a Large Pedigree With Familial Dilated Cardiomyopathy

(2013) Quinn S. Wells et al.   Circulation-Cardiovascular Genetics

Genetic analysis of sudden unexplained death: A multidisciplinary approach

(2013) Silke Kauferstein et al.   FORENSIC SCIENCE INTERNATIONAL

Postmortem genetic screening of SNPs in RyR2 gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population

(2013) Lei Huang et al.   FORENSIC SCIENCE INTERNATIONAL

HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes

(2013) Silvia G. Priori et al.   HEART RHYTHM

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

(2012) Vincent Plagnol et al.   BIOINFORMATICS

Sarcomeric gene mutations in sudden infant death syndrome (SIDS)

(2012) Maria Brion et al.   FORENSIC SCIENCE INTERNATIONAL

Remodeling of the cardiac sodium channel, connexin43, and plakoglobin at the intercalated disk in patients with arrhythmogenic cardiomyopathy

(2012) Maartje Noorman et al.   HEART RHYTHM

Desmosome–Ion Channel Interactions and Their Possible Role in Arrhythmogenic Cardiomyopathy

(2012) Mario Delmar   PEDIATRIC CARDIOLOGY

Sudden cardiac death with normal heart:

(2010) Cristina Basso et al.   CARDIOVASCULAR PATHOLOGY

Sudden Death in the Young

(2010) Christian van der Werf et al.   Circulation-Arrhythmia and Electrophysiology

Nationwide study of sudden cardiac death in persons aged 1–35 years

(2010) Bo Gregers Winkel et al.   EUROPEAN HEART JOURNAL

Sudden cardiac death: epidemiology and risk factors

(2010) A. Selcuk Adabag et al.   Nature Reviews Cardiology

Piezo1 and Piezo2 Are Essential Components of Distinct Mechanically Activated Cation Channels

(2010) B. Coste et al.   SCIENCE

Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families

(2008) Elijah R. Behr et al.   EUROPEAN HEART JOURNAL