46 results on '"Tester, David J"'
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2. Abstract 17329: Histone Modifications Regulate Hypertrophy Pathways in Obstructive Hypertrophic Cardiomyopathy
3. Abstract 15036: Suppression-Replacement Gene Therapy for CALM1-Mediated Long QT Syndrome
4. Abstract 13153: Proteomic Differences in Sarcomere Positive HCM May Explain More Severe Clinical Differences
5. Abstract 12634: A Novel in-vitro Patient-Specific Re-Engineered Cardiomyocyte Model of Multifocal Ectopic Purkinje-Related Premature Contractions
6. Abstract 12083: Highly Caffeinated Energy Drinks and Genetic Heart Disease-Associated Sudden Cardiac Arrest
7. Abstract 12044: Injectable Contraceptive, Medroxyprogesterone Acetate, Produces Erratic Beating Patterns in Patient-Specific Re-Engineered Heart Cells With Type 2 Long QT Syndrome
8. Abstract 11976: Functional Characterization of Calcium Handling Kinetics in Patient-Derived Ipsc-Cm Models of Pkp2-Mediated Arrhythmogenic Right Ventricular Cardiomyopathy
9. Abstract 11556: Sodium/Glucose Co-Transporter 2 Inhibition and Attenuation of the Action Potential Duration in Patient-Specific Re-Engineered Heart Cells With Congenital Long QT Syndrome
10. Abstract 11027: SGK1 Inhibition and Attenuation of the Action Potential Duration in Re-Engineered Heart Cell Models of Drug-Induced QT Prolongation
11. Abstract 10986: SGK1 Inhibition Attenuated the Action Potential Duration In-Patient and Genotype-Specific Re-Engineered Heart Cells With Congenital Long QT Syndrome
12. Abstract 10669: Phenytoin, an Anti-Epileptic Sodium Channel Blocker, May Be a Novel Therapy for Type 3 Long Qt Syndrome Mediated by the Lidocaine-Insensitive SCN5A-F1760C Variant
13. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome
14. Variant Frequency and Clinical Phenotype Call Into Question the Nature of Minor, Nonsyndromic Long-QT Syndrome–Susceptibility Gene-Disease Associations
15. Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series
16. Functional Invalidation of Putative Sudden Infant Death Syndrome–Associated Variants in the KCNH2-Encoded Kv11.1 Channel
17. Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation
18. Sudden infant death syndrome and inherited cardiac conditions
19. Abstract 19352: Utilizing the Genome Aggregation Database, in silico Tools, and Patch Clamp Heterologous Expression Studies to Demote Previously Published Type 1 Long QT Syndrome Mutations From Pathogenic to Benign
20. Abstract 16767: Re-Engineered Heart Cells From a Patient With R58Q-MYL2 Shows Increased Heart Rate, Cellular Hypertrophy, and Reduced L-Type Calcium Currents
21. Abstract 15885: A Novel Pore Region CACNA1C Missense Mutation Identified in a Patient With Ventricular Tachyarrhythmia Results in L-type Calcium Channel Selectivity Alteration
22. Abstract 14872: Utility of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Variants of Uncertain Significance
23. Abstract 14550: LQT5-Lite: Defining the Clinical Phenotype Associated With the Potentially Pro-Arrhythmic KCNE1-D85N Common Variant
24. Genomic Triangulation and Coverage Analysis in Whole-Exome Sequencing–Based Molecular Autopsies
25. Whole genome sequencing identifies etiology of recurrent male intrauterine fetal death
26. Congenital myopathy associated with the triadin knockout syndrome
27. Whole exome sequencing with genomic triangulation implicates CDH2‐encoded N‐cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy
28. A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome
29. Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death
30. A KCNQ1 Mutation Causes a High Penetrance for Familial Atrial Fibrillation
31. Long QT Syndrome–Associated Mutations in Intrauterine Fetal Death
32. Drowning
33. Cardiac Channel Molecular Autopsy: Insights From 173 Consecutive Cases of Autopsy-Negative Sudden Unexplained Death Referred for Postmortem Genetic Testing
34. Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death
35. Unexplained Drownings and the Cardiac Channelopathies: A Molecular Autopsy Series
36. A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia
37. Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms
38. Pathogenesis of Unexplained Drowning: New Insights From a Molecular Autopsy
39. Targeted Mutational Analysis of the RyR2-Encoded Cardiac Ryanodine Receptor in Sudden Unexplained Death: A Molecular Autopsy of 49 Medical Examiner/Coroner's Cases
40. Ethnic Differences in Cardiac Potassium Channel Variants: Implications for Genetic Susceptibility to Sudden Cardiac Death and Genetic Testing for Congenital Long QT Syndrome
41. Primer on Medical Genomics Part VIII: Essentials of Medical Genetics for the Practicing Physician
42. Epinephrine-Induced QT Interval Prolongation: A Gene-Specific Paradoxical Response in Congenital Long QT Syndrome
43. Postmortem Molecular Analysis of SCN5A Defects in Sudden Infant Death Syndrome
44. Molecular Autopsy of Sudden Unexplained Death in the Young
45. Swimming, a Gene-Specific Arrhythmogenic Trigger for Inherited Long QT Syndrome
46. Brief Report: Molecular Diagnosis of the Inherited Long-QT Syndrome in a Woman Who Died after Near-Drowning
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