From Death to Life/Back to the Future: Detailed Premorbid Clinical and Family History Can Save Lives and Address the Final Diagnosis in Sudden Unexplained Deaths With Negative Autopsy

Variant interpretation in molecular autopsy: a useful dilemma

(2022) Stefanie Scheiper-Welling et al.   INTERNATIONAL JOURNAL OF LEGAL MEDICINE

The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution

(2022) Alberto Palladino et al.   Genes

Incidence of Sudden Cardiac Death in the European Union

(2022) Jean-Philippe Empana et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature

(2022) Minh-Tuan Huynh et al.   Genes

Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset

(2021) Andreas Brodehl et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report

(2021) Roman Myasnikov et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation

(2021) Cheng-Tsung Hsiao et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Aberrant accumulation of TMEM43 accompanied by perturbed transmural gene expression in arrhythmogenic cardiomyopathy

(2021) Haruki Shinomiya et al.   FASEB JOURNAL

Comparison of Fresh Frozen Tissue With Formalin-Fixed Paraffin-Embedded Tissue for Mutation Analysis Using a Multi-Gene Panel in Patients With Colorectal Cancer

(2020) Xian Hua Gao et al.   Frontiers in Oncology

Calsequestrin, a key protein in striated muscle health and disease

(2020) Daniela Rossi et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death

(2019) Florence Fellmann et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical and genetic backgrounds of hypertrophic cardiomyopathy with mid-ventricular obstruction

(2018) Natsuko Inagaki et al.   JOURNAL OF HUMAN GENETICS

Atrial Structural Remodeling Gene Variants in Patients with Atrial Fibrillation

(2018) Rosa Doñate Puertas et al.   Biomed Research International

SCN5A Variants: Association With Cardiac Disorders

(2018) Wenjia Li et al.   Frontiers in Physiology

Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy

(2017) Matteo Dal Ferro et al.   HEART

Genetic Testing in the Evaluation of Unexplained Cardiac ArrestCLINICAL PERSPECTIVE

(2017) Greg Mellor et al.   Circulation-Cardiovascular 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

2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death

(2015) Silvia G. Priori et al.   EUROPEAN HEART JOURNAL

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Incidence of Sudden Cardiac Death in a Young Active Population

(2015) A. Farioli et al.   Journal of the American Heart Association

The perfect storm? Histiocytoid cardiomyopathy and compound CACNA2D1 and RANGRF mutation in a baby

(2014) Stefania Cataldo et al.   CARDIOLOGY IN THE YOUNG

Negative autopsy and sudden cardiac death

(2014) Oscar Campuzano et al.   INTERNATIONAL JOURNAL OF LEGAL MEDICINE

Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation

(2012) Morten S Olesen et al.   BMC Medical Genetics

MOG1

(2011) Darouna Kattygnarath et al.   Circulation-Cardiovascular Genetics

TMEM43 mutations in emery-dreifuss muscular dystrophy-related myopathy

(2010) Wen-Chen Liang et al.   ANNALS OF NEUROLOGY

α1-Syntrophin Mutations Identified in Sudden Infant Death Syndrome Cause an Increase in Late Cardiac Sodium Current

(2009) Jianding Cheng et al.   Circulation-Arrhythmia and Electrophysiology

Molecular genetics of sudden cardiac death

(2008) María Sol Rodríguez-Calvo et al.   FORENSIC SCIENCE INTERNATIONAL

Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex

(2008) K. Ueda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA