Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy
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J. Skinner | E. Behr | M. Sheppard | J. Ware | M. Christiansen | P. Hedley | G. Arno | D. Love | A. Wilde | S. Jeffery | S. John | Marta C. Cohen | Sanjay Sharma | C. van der Werf | J. Tfelt‐Hansen | B. Winkel | H. Raju | Xinzhong Li
[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..