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Your search keyword '"Ray E Hershberger"' showing total 187 results

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1. A human mitofusin 2 mutation can cause mitophagic cardiomyopathy

2. Reconsidering association testing methods using single-variant test statistics as alternatives to pooling tests for sequence data with rare variants.

3. Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

4. The DCM Project Portal: A direct-to-participant platform of The DCM Research Project

5. Screening for Dilated Cardiomyopathy in At-Risk First-Degree Relatives

7. Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy

8. Plain Language Summary of Publication of the safety and efficacy of ARRY-371797 in people with dilated cardiomyopathy and a faulty LMNA gene

10. A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy

11. TTR variants in patients with dilated cardiomyopathy: An investigation of the DCM Precision Medicine Study

12. Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

13. Efficacy and Safety of ARRY-371797 in LMNA -Related Dilated Cardiomyopathy: A Phase 2 Study

14. Efficacy and Safety of ARRY-371797 in

16. A human mitofusin 2 mutation causes mitophagic cardiomyopathy

17. ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

18. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

19. International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework

20. 2021 ACC/AHA Key Data Elements and Definitions for Heart Failure

21. Communal Coping as a Strategy to Enhance Family Engagement in Dilated Cardiomyopathy

22. Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM)

23. Considering complexity in the genetic evaluation of dilated cardiomyopathy

24. Attitudes of Dilated Cardiomyopathy Patients and Investigators Toward Genomic Study Enrollment, Consent Process, and Return of Genetic Results

25. Effects of danicamtiv, a novel cardiac myosin activator, in heart failure with reduced ejection fraction: experimental data and clinical results from a phase 2a trial

26. Validating an Idiopathic Dilated Cardiomyopathy Diagnosis Using Cardiovascular Magnetic Resonance: The Dilated Cardiomyopathy Precision Medicine Study

28. ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

29. Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

30. Prevalence and Cumulative Risk of Familial Idiopathic Dilated Cardiomyopathy

31. Knowledge of Genome Sequencing and Trust in Medical Researchers Among Patients of Different Racial and Ethnic Groups With Idiopathic Dilated Cardiomyopathy

32. Response to McGurk et al

34. Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future

35. The Evolving Science of Dilated Cardiomyopathy

36. The Complex and Diverse Genetic Architecture of Dilated Cardiomyopathy

37. Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

38. 2021 ACC/AHA Key Data Elements and Definitions for Heart Failure: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Data Standards (Writing Committee to Develop Clinical Data Standards for Heart Failure)

39. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

40. Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death

41. An Evidence-based Assessment of Genes in Dilated Cardiomyopathy

42. 2021 ACC/AHA Key Data Elements and Definitions for Heart Failure: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Data Standards (Writing Committee to Develop Clinical Data Standards for Heart Failure)

43. Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association

44. SOS1 Gain of Function Variants in Dilated Cardiomyopathy

45. Variant Interpretation for Dilated Cardiomyopathy

47. Genetic cardiomyopathies

48. Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel

49. Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel

50. Dilated Cardiomyopathy

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