LONG QT SYNDROME UPDATE: July 28 - August 4, 2016 || Public Health Genomics Knowledge Base (v1.0)

Public Health Genomics Knowledge Base (v1.0)



July 28 - August 4, 2016 


Last Updated: Jul 28, 2016

• Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity.
  Garcia John et al. Frontiers in cardiovascular medicine 2016 320
• Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect.
  Veltmann Christian, et al. Journal of the American Heart Association 2016 0 (7)
• Patient Recall, Interpretation, and Perspective of an Inconclusive Long QT Syndrome Genetic Test Result.
  Predham Sarah et al. Journal of genetic counseling 2016 Jul
• The role of mutations in the SCN5A gene in cardiomyopathies.
  Zaklyazminskaya Elena et al. Biochimica et biophysica acta 2016 Jul 1863(7 Pt B) 1799-805
• Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome.
  Burgos Mariana et al. Molecular diagnosis & therapy 2016 Jun
• Latent pathogenicity of the G38S polymorphism of KCNE1 K(+) channel modulator.
  Yamaguchi Yoshiaki, et al. Heart and vessels 2016 6
• The Influence of Pregnancy in Patients with Congenital Long QT Syndrome.
  Garg Lohit, et al. Cardiology in review 2016 3
• Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity?
  Izumi Gaku, et al. Pediatric cardiology 2016 4
• KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
  Vyas Bijal, et al. American journal of medical genetics. Part A 2016 4
• Molecular autopsy finds killer mutation- Sleuthing researchers focus genomic technology on unexplained deaths
  San Diego Union Tribune, March 4, 2016
• Exercise restrictions for patients with inherited cardiac conditions: Current guidelines, challenges and limitations.
  Hammond-Haley Matthew et al. International journal of cardiology 2016 Feb 209234-241
• [High incidence of sudden cardiac death in one family with type-3 long QT syndrome: molecular genetics and electrophysiology mechanism analysis].
  Zhou Hui, et al. Zhonghua xin xue guan bing za zhi 2015 12 (12) 1046-50
• Association of the hERG mutation with long?QT syndrome type 2, syncope and epilepsy.
  Li Guoliang, et al. Molecular medicine reports 2016 2
• Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases.
  Neubauer Jacqueline, et al. International journal of legal medicine 2016 2
• Pediatric Cohort With Long QT Syndrome?- KCNH2 Mutation Carriers Present Late Onset But Severe Symptoms.
  Ozawa Junichi, et al. Circulation journal : official journal of the Japanese Circulation Society 2016 1

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Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB