Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.

[1]  N. Morling,et al.  Whole genome and transcriptome sequencing of post-mortem cardiac tissues from sudden cardiac death victims identifies a gene regulatory variant in NEXN , 2019, International Journal of Legal Medicine.

[2]  G. Fishman,et al.  Functional characterization of SCN10A variants in several cases of sudden unexplained death. , 2019, Forensic science international.

[3]  S. G. Temel,et al.  European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death , 2019, European Journal of Human Genetics.

[4]  F. Vincenzi.  Sudden Unexpected Death and the Mammalian Dive Response: Catastrophic Failure of a Complex Tightly Coupled System , 2019, Front. Physiol..

[5]  Ivan Gando,et al.  Functional significance of channelopathy gene variants in unexplained death , 2018, Forensic Science, Medicine and Pathology.

[6]  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.

[7]  W. Berger,et al.  Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases , 2017, European Journal of Human Genetics.

[8]  Michael J Ackerman,et al.  The Promise and Peril of Precision Medicine: Phenotyping Still Matters Most. , 2016, Mayo Clinic proceedings.

[9]  M. Ackerman,et al.  Genetic purgatory and the cardiac channelopathies: Exposing the variants of uncertain/unknown significance issue. , 2015, Heart rhythm.

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

[11]  T. Hansen,et al.  Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases , 2015, European Journal of Human Genetics.

[12]  S. Seal,et al.  The ICR1000 UK exome series: a resource of gene variation in an outbred population , 2015, F1000Research.

[13]  M. Thoma,et al.  Infant Mortality Statistics From the 2013 Period Linked Birth/Infant Death Data Set. , 2015, National vital statistics reports : from the Centers for Disease Control and Prevention, National Center for Health Statistics, National Vital Statistics System.

[14]  H. Rehm,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.

[15]  N. Salomonis.  Systems-level perspective of sudden infant death syndrome , 2014, Pediatric Research.

[16]  J. Skinner,et al.  Long QT molecular autopsy in sudden infant death syndrome , 2014, Archives of Disease in Childhood.

[17]  R. Brugada,et al.  Sarcomeric gene mutations in sudden infant death syndrome (SIDS). , 2012, Forensic science international.

[18]  D. Tester,et al.  Connexin43 Mutation Causes Heterogeneous Gap Junction Loss and Sudden Infant Death , 2012, Circulation.

[19]  Katriina Aalto-Setälä,et al.  Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture , 2011, Disease Models & Mechanisms.

[20]  D. Tester,et al.  Loss-of-Function Mutations in the KCNJ8-Encoded Kir6.1 KATP Channel and Sudden Infant Death Syndrome , 2011, Circulation. Cardiovascular genetics.

[21]  G. Danieli,et al.  Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management , 2011, Human mutation.

[22]  M. Ackerman,et al.  Genomic risk factors in sudden infant death syndrome , 2010, Genome Medicine.

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

[24]  D. Tester,et al.  Sudden infant death syndrome-associated mutations in the sodium channel beta subunits. , 2010, Heart rhythm.

[25]  J. Deharo,et al.  Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. , 2010, 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.

[26]  C. January,et al.  &agr;1-Syntrophin Mutations Identified in Sudden Infant Death Syndrome Cause an Increase in Late Cardiac Sodium Current , 2009, Circulation. Arrhythmia and electrophysiology.

[27]  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.

[28]  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.

[29]  H. Kinney,et al.  The brainstem and serotonin in the sudden infant death syndrome. , 2009, Annual review of pathology.

[30]  M. Ackerman,et al.  Sudden infant death syndrome: do ion channels play a role? , 2009, Heart rhythm.

[31]  L. Peltonen,et al.  High prevalence of four long QT syndrome founder mutations in the Finnish population , 2009, Annals of medicine.

[32]  K. Shianna,et al.  Long-range LD can confound genome scans in admixed populations. , 2008, American journal of human genetics.

[33]  D. Tester,et al.  Molecular and Functional Characterization of Novel Glycerol-3-Phosphate Dehydrogenase 1–Like Gene (GPD1-L) Mutations in Sudden Infant Death Syndrome , 2007, Circulation.

[34]  D. Tester,et al.  A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors. , 2007, Heart rhythm.

[35]  Michael J Ackerman,et al.  Sudden Infant Death Syndrome: Review of implicated genetic factors , 2007, American journal of medical genetics. Part A.

[36]  Michael J Ackerman,et al.  Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. , 2007, Heart rhythm.

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

[38]  G. Dorn,et al.  A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy , 2006, Proceedings of the National Academy of Sciences of the United States of America.

[39]  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.

[40]  Dan M Roden,et al.  KCNH2-K897T Is a Genetic Modifier of Latent Congenital Long-QT Syndrome , 2005, Circulation.

[41]  D. Tester,et al.  Sudden infant death syndrome: how significant are the cardiac channelopathies? , 2005, Cardiovascular research.

[42]  Roger W Byard,et al.  Sudden infant death syndrome and unclassified sudden infant deaths: a definitional and diagnostic approach. , 2004, Pediatrics.

[43]  Patrick Y Lee,et al.  Sudden death among infants and adults: companion disorders of maladaptive sympathetic bias. , 2004, Medical hypotheses.

[44]  J. Towbin,et al.  Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. , 2001, JAMA.

[45]  E. Rosenthal,et al.  Prolongation of the QT interval and the sudden infant death syndrome. , 1998, The New England journal of medicine.

[46]  W. Guntheroth,et al.  Theories of cardiovascular causes in sudden infant death syndrome. , 1989, Journal of the American College of Cardiology.

[47]  M. Sakanoue.  [Sudden infant death syndrome]. , 1985, [Kango gijutsu] : [Nursing technique].

[48]  P. Schwartz.  Cardiac sympathetic innervation and the sudden infant death syndrome. A possible pathogenetic link. , 1976, The American journal of medicine.

[49]  M. Valdés-Dapena,et al.  Editorial: Sudden, unexpected and unexplained death in infancy--a status report--1973. , 1973, The New England journal of medicine.

[50]  H. Kinney,et al.  A perspective on neuropathologic findings in victims of the sudden infant death syndrome: the triple-risk model. , 1994, Biology of the neonate.