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Your search keyword '"Walsh, Roddy"' showing total 368 results

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1. Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience

2. Rare coding variant analysis for human diseases across biobanks and ancestries

4. A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand

6. Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.

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

9. Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

11. Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 that Are Common in Chinese Patients

12. Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

14. Genetic, genotype and imaging studies of hypertrophic cardiomyopathy

15. Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

16. Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy

17. Common and rare susceptibility genetic variants predisposing to Brugada syndrome in Thailand

18. Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies

19. Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

20. A rare non-coding enhancer variant in SCN5A contributes to the high prevalence of Brugada syndrome in Thailand

23. New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy

24. Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations

25. Genetic Etiology for Alcohol-Induced Cardiac Toxicity

26. Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

27. Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

28. Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center

29. Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy

32. The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort

33. Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

34. P150: ClinGen hereditary cardiovascular disease gene curation expert panel: reappraisal of the validity of hypertrophic cardiomyopathy genes*

36. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

37. Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy

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

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

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

41. Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young

42. Genetic Variants Associated With Cancer Therapy–Induced Cardiomyopathy

43. Influence of ethnicity and consanguinity on the genetic architecture of Hypertrophic Cardiomyopathy: insights from an understudied population

44. Targeted therapies in genetic dilated and hypertrophic cardiomyopathies: From molecular mechanisms to therapeutic targets

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

47. Abstract 19096: Evaluating Hypertrophic Cardiomyopathy Disease-Gene Associations Using the Clinical Genome Resource (ClinGen) Gene Curation Framework

48. PO-629-03 IN-DEPTH ANALYSIS OF THE SCN5A LOCUS HIGHLIGHTS DISTINCT GENETIC ARCHITECTURES FOR BRUGADA SYNDROME IN DIFFERENT ANCESTRIES AND IDENTIFIES A NOVEL RARE ENHANCER VARIANT ASSOCIATED WITH DISEASE IN SOUTHEAST ASIAN PATIENTS

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