Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy

[1]  M. Sheppard,et al.  Guidelines for autopsy investigation of sudden cardiac death: 2017 update from the Association for European Cardiovascular Pathology , 2017, Virchows Archiv.

[2]  J. Skinner,et al.  Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome , 2017, Journal of the American College of Cardiology.

[3]  J. Skinner,et al.  A Prospective Study of Sudden Cardiac Death among Children and Young Adults. , 2016, The New England journal of medicine.

[4]  A. Pfeufer,et al.  Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations , 2016, Pflügers Archiv - European Journal of Physiology.

[5]  P. Lambiase,et al.  Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing. , 2016, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

[6]  A. Parker,et al.  Whole-exome sequencing of a family with local anesthetic resistance. , 2016, Minerva anestesiologica.

[7]  V. Álvarez,et al.  KCNQ1 gene variants in the risk for type 2 diabetes and impaired renal function in the Spanish Renastur cohort , 2016, Molecular and Cellular Endocrinology.

[8]  Raymond M. Moore,et al.  Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. , 2016, American journal of human genetics.

[9]  Andrea Mazzanti,et al.  2015 ESC Guidelines for the Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death. , 2016, Revista espanola de cardiologia.

[10]  Peng-Sheng Chen,et al.  Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel , 2015, PloS one.

[11]  James Y. Zou Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[12]  Jørgen K. Kanters,et al.  Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. , 2015, European heart journal.

[13]  Gabor T. Marth,et al.  A global reference for human genetic variation , 2015, Nature.

[14]  B. Ludes,et al.  Targeted next generation sequencing application in cardiac channelopathies: Analysis of a cohort of autopsy-negative sudden unexplained deaths. , 2015, Forensic science international.

[15]  Michael Eldar,et al.  Functional abnormalities in iPSC-derived cardiomyocytes generated from CPVT1 and CPVT2 patients carrying ryanodine or calsequestrin mutations , 2015, Journal of cellular and molecular medicine.

[16]  H. Bundgaard,et al.  Next-generation sequencing of 34 genes in sudden unexplained death victims in forensics and in patients with channelopathic cardiac diseases , 2015, International Journal of Legal Medicine.

[17]  M. Hollegaard,et al.  The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome. , 2015, Heart rhythm.

[18]  F. A. Lai,et al.  Non-ventricular, Clinical, and Functional Features of the RyR2(R420Q) Mutation Causing Catecholaminergic Polymorphic Ventricular Tachycardia. , 2015, Revista espanola de cardiologia.

[19]  Bale,et al.  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, Genetics in Medicine.

[20]  Avni Santani,et al.  Actionable exomic incidental findings in 6503 participants: challenges of variant classification , 2015, Genome research.

[21]  B. Frey,et al.  The human splicing code reveals new insights into the genetic determinants of disease , 2015, Science.

[22]  M. Ackerman,et al.  Compound heterozygous mutations in the SCN5A-encoded Nav1.5 cardiac sodium channel resulting in atrial standstill and His-Purkinje system disease. , 2014, The Journal of pediatrics.

[23]  E. Behr,et al.  Cardiac Evaluation of Pediatric Relatives in Sudden Arrhythmic Death Syndrome: A 2-Center Experience , 2014, Circulation. Arrhythmia and electrophysiology.

[24]  M. Gazouli,et al.  Loss-of-function of the voltage-gated sodium channel NaV1.5 (channelopathies) in patients with irritable bowel syndrome. , 2014, Gastroenterology.

[25]  Rena A. Godfrey,et al.  The implications of familial incidental findings from exome sequencing: The NIH Undiagnosed Diseases Program experience , 2014, Genetics in Medicine.

[26]  Yingying Tang,et al.  Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. , 2014, Forensic science international.

[27]  Jana Marie Schwarz,et al.  MutationTaster2: mutation prediction for the deep-sequencing age , 2014, Nature Methods.

[28]  R. Brugada,et al.  Negative autopsy and sudden cardiac death , 2014, International Journal of Legal Medicine.

[29]  M. Olesen,et al.  High prevalence of genetic variants previously associated with Brugada syndrome in new exome data , 2013, Clinical genetics.

[30]  S. Cook,et al.  Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia , 2013, Journal of Medical Genetics.

[31]  Emily H Turner,et al.  Actionable, pathogenic incidental findings in 1,000 participants' exomes. , 2013, American journal of human genetics.

[32]  Wataru Shimizu,et al.  HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes , 2013 .

[33]  J. Svendsen,et al.  Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data. , 2013, The Canadian journal of cardiology.

[34]  F. van Petegem,et al.  The cardiac ryanodine receptor N-terminal region contains an anion binding site that is targeted by disease mutations. , 2013, Structure.

[35]  J. Svendsen,et al.  New Exome Data Question the Pathogenicity of Genetic Variants Previously Associated With Catecholaminergic Polymorphic Ventricular Tachycardia , 2013, Circulation. Cardiovascular genetics.

[36]  S. Cook,et al.  Towards Clinical Molecular Diagnosis of Inherited Cardiac Conditions: A Comparison of Bench-Top Genome DNA Sequencers , 2013, PloS one.

[37]  K. Aonuma,et al.  Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. , 2013, Circulation journal : official journal of the Japanese Circulation Society.

[38]  Xiaoming Sheng,et al.  An In Vivo Cardiac Assay to Determine the Functional Consequences of Putative Long QT Syndrome Mutations , 2013, Circulation research.

[39]  E. Behr,et al.  Unexplained sudden death, focussing on genetics and family phenotyping , 2013, Current opinion in cardiology.

[40]  Mark E. Anderson,et al.  Ca2+/Calmodulin-Dependent Protein Kinase II–Based Regulation of Voltage-Gated Na+ Channel in Cardiac Disease , 2012, Circulation.

[41]  Michael J Ackerman,et al.  Phylogenetic and Physicochemical Analyses Enhance the Classification of Rare Nonsynonymous Single Nucleotide Variants in Type 1 and 2 Long-QT Syndrome , 2012, Circulation. Cardiovascular genetics.

[42]  Sungsam Gong,et al.  Next Generation Diagnostics in Inherited Arrhythmia Syndromes , 2012, Journal of Cardiovascular Translational Research.

[43]  J. Svendsen,et al.  High Prevalence of Long QT Syndrome–Associated SCN5A Variants in Patients With Early-Onset Lone Atrial Fibrillation , 2012, Circulation. Cardiovascular genetics.

[44]  D. Tester,et al.  Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. , 2012, Mayo Clinic proceedings.

[45]  Deborah A Nickerson,et al.  Evaluating Pathogenicity of Rare Variants From Dilated Cardiomyopathy in the Exome Era , 2012, Circulation. Cardiovascular genetics.

[46]  G. Sadjadieh,et al.  High prevalence of genetic variants previously associated with LQT syndrome in new exome data , 2012, European Journal of Human Genetics.

[47]  Leah M. Williams,et al.  Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. , 2011, Genetic testing and molecular biomarkers.

[48]  H. Bundgaard,et al.  The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study , 2011, Journal of Negative Results in BioMedicine.

[49]  Ondrej Libiger,et al.  A statistical method for the detection of variants from next-generation resequencing of DNA pools , 2016, Bioinform..

[50]  C. January,et al.  The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current. , 2011, Physiological genomics.

[51]  P. Mangin,et al.  Genetic analysis of sudden cardiac death victims: a survey of current forensic autopsy practices , 2011, International Journal of Legal Medicine.

[52]  J. Svendsen,et al.  Nationwide study of sudden cardiac death in persons aged 1-35 years. , 2011, European heart journal.

[53]  A. Shelling,et al.  Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds. , 2011, Heart rhythm.

[54]  E. Kaufman,et al.  A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations. , 2011, Heart rhythm.

[55]  A. Vasku,et al.  Mutation Analysis Ion Channel Genes Ventricular Fibrillation Survivors with Coronary Artery Disease , 2011, Pacing and clinical electrophysiology : PACE.

[56]  M. DePristo,et al.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.

[57]  Jana Marie Schwarz,et al.  MutationTaster evaluates disease-causing potential of sequence alterations , 2010, Nature Methods.

[58]  Henggui Zhang,et al.  Mechanistic Links Between Na+ Channel (SCN5A) Mutations and Impaired Cardiac Pacemaking in Sick Sinus Syndrome , 2010, Circulation research.

[59]  A. Wilde,et al.  Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation. , 2010, Heart rhythm.

[60]  Richard P. O. Jones,et al.  Multiple Loss-of-Function Mechanisms Contribute to SCN5A-Related Familial Sick Sinus Syndrome , 2010, PloS one.

[61]  A. Shelling,et al.  Posthumous diagnosis of long QT syndrome from neonatal screening cards. , 2010, Heart rhythm.

[62]  Michael J Ackerman,et al.  The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. , 2009, Journal of the American College of Cardiology.

[63]  Michael J Ackerman,et al.  Genetic Testing for Long-QT Syndrome: Distinguishing Pathogenic Mutations From Benign Variants , 2009, Circulation.

[64]  Michael Christiansen,et al.  The genetic basis of long QT and short QT syndromes: A mutation update , 2009, Human mutation.

[65]  A. Wilde,et al.  Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. , 2009, Heart rhythm.

[66]  J. Healey,et al.  Systematic Assessment of Patients With Unexplained Cardiac Arrest: Cardiac Arrest Survivors With Preserved Ejection Fraction Registry (CASPER) , 2009, Circulation.

[67]  L. Peltonen,et al.  Common Candidate Gene Variants Are Associated with Qt Interval Duration in the General Population from The , 2022 .

[68]  P. Schwartz,et al.  A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome. , 2009, Heart rhythm.

[69]  C. Sudandiradoss,et al.  In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs) , 2008, Genomic Medicine.

[70]  A. Shelling,et al.  Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome. , 2008, Heart rhythm.

[71]  E. Behr,et al.  Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. , 2008, European heart journal.

[72]  Y. Rudy,et al.  Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation. , 2008, American journal of physiology. Heart and circulatory physiology.

[73]  Johan T den Dunnen,et al.  Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker , 2008, Human mutation.

[74]  L. Tiret,et al.  Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects , 2007, European Journal of Human Genetics.

[75]  Bba,et al.  Clinical Aspects of Type-1 Long-QT Syndrome by Location, Coding Type, and Biophysical Function of Mutations Involving the KCNQ1 Gene , 2007, Circulation.

[76]  Peter J. Schwartz,et al.  Prevalence of Long-QT Syndrome Gene Variants in Sudden Infant Death Syndrome , 2007, Circulation.

[77]  P. Schwartz,et al.  Cardiac Sodium Channel Dysfunction in Sudden Infant Death Syndrome , 2007, Circulation.

[78]  E. Behr,et al.  Sudden arrhythmic death syndrome: a national survey of sudden unexplained cardiac death , 2007, Heart.

[79]  Johnf . Thompson,et al.  Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. , 2006, American heart journal.

[80]  G. Millat,et al.  Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome , 2006, Clinical genetics.

[81]  Jørgen K. Kanters,et al.  High‐efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi‐CE‐SSCP) mutation screening of SCN5A: a rapid genetic approach to cardiac arrhythmia , 2006, Clinical genetics.

[82]  O. Pongs,et al.  Calmodulin Is Essential for Cardiac IKS Channel Gating and Assembly: Impaired Function in Long-QT Mutations , 2006, Circulation research.

[83]  C. January,et al.  Most LQT2 Mutations Reduce Kv11.1 (hERG) Current by a Class 2 (Trafficking-Deficient) Mechanism , 2006, Circulation.

[84]  S. Priori,et al.  Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. , 2005, JAMA.

[85]  K. Ueda,et al.  A novel mutation in FKBP12.6 binding region of the human cardiac ryanodine receptor gene (R2401H) in a Japanese patient with catecholaminergic polymorphic ventricular tachycardia. , 2005, International journal of cardiology.

[86]  M. T. Lee,et al.  R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese , 2005, Journal of Medical Genetics.

[87]  A. Busjahn,et al.  Single nucleotide polymorphism map of five long-QT genes , 2005, Journal of Molecular Medicine.

[88]  Jeffrey L. Anderson,et al.  Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. , 2005, JAMA.

[89]  J. Stephens,et al.  Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. , 2004, Heart rhythm.

[90]  J. Carlquist,et al.  An intronic mutation causes long QT syndrome. , 2004, Journal of the American College of Cardiology.

[91]  G. Breithardt,et al.  Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients , 2004, Journal of Molecular Medicine.

[92]  E. Behr,et al.  Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome , 2003, The Lancet.

[93]  A. George,et al.  Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). , 2003, The Journal of clinical investigation.

[94]  H. Smeets,et al.  DHPLC analysis of potassium ion channel genes in congenital long QT syndrome , 2002, Human mutation.

[95]  Carlo Napolitano,et al.  Clinical and Molecular Characterization of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia , 2002, Circulation.

[96]  Jørgen K. Kanters,et al.  Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome. , 2001, Clinical chemistry.

[97]  D M Roden,et al.  A common polymorphism associated with antibiotic-induced cardiac arrhythmia. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[98]  A J Moss,et al.  Spectrum of Mutations in Long-QT Syndrome Genes: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2 , 2000, Circulation.

[99]  S. Priori,et al.  The Elusive Link Between LQT3 and Brugada Syndrome: The Role of Flecainide Challenge , 2000, Circulation.

[100]  M. Keating,et al.  MiRP1 Forms IKr Potassium Channels with HERG and Is Associated with Cardiac Arrhythmia , 1999, Cell.

[101]  C. January,et al.  Large-scale Mutational Analysis of Kv11.1 Reveals Molecular Insights into Type 2 Long QT Syndrome , 2014, Nature Communications.

[102]  J. Lunardi,et al.  Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring. , 2011, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

[103]  J. Towbin,et al.  An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. , 2010, Heart rhythm.

[104]  S. Henikoff,et al.  Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm , 2009, Nature Protocols.

[105]  E. Rimm,et al.  Cardiac Sodium Channel Gene Variants and Sudden Cardiac Death in Women , 2008, Circulation.

[106]  A. Poliakov,et al.  [The clinical variability of and approaches to treatment of life-threatening ventricular arrhythmias caused by SCN5A gene mutations]. , 2007, Vestnik Rossiiskoi akademii meditsinskikh nauk.

[107]  Jeroen Aerssens,et al.  Mutation analysis in congenital Long QT Syndrome--a case with missense mutations in KCNQ1 and SCN5A. , 2003, Genetic testing.

[108]  Hilde van der Togt,et al.  Publisher's Note , 2003, J. Netw. Comput. Appl..