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List of works by Roddy Walsh

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

scientific article published on 4 January 2018

Advantages and Perils of Clinical Whole-Exome and Whole-Genome Sequencing in Cardiomyopathy

scientific article published on 01 April 2020

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

article

Anti-inflammatory modulation of chronic airway inflammation in the murine house dust mite model

scientific article published on 5 March 2008

Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity

scientific article

CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.

scientific article published on 25 January 2018

Complex roads from genotype to phenotype in dilated cardiomyopathy: scientific update from the Working Group of Myocardial Function of the European Society of Cardiology

scientific article published on 01 August 2018

Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?

scientific article published on 18 April 2020

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

scientific article published on 06 June 2018

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

scientific article published on 11 January 2017

Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).

scientific article published on May 2014

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

scientific article published on 17 February 2016

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

scientific article published on 7 September 2020

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

article

Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

scientific article published on 6 July 2021

Genetic Etiology for Alcohol-Induced Cardiac Toxicity.

scientific article

Genetic Variants Associated With Cancer Therapy-Induced Cardiomyopathy

scientific article published on 16 April 2019

Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia?

scientific article

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11.

scientific article published on January 2017

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

scientific article

Issues and Challenges in Diagnostic Sequencing for Inherited Cardiac Conditions.

scientific article published on 22 November 2016

Moderate Physical Activity in Healthy Adults Is Associated With Cardiac Remodeling

scientific article published on August 2016

NECTAR: a database of codon-centric missense variant annotations

scientific article

Paralogous annotation of disease-causing variants in long QT syndrome genes

scientific article

Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

scientific article published on 17 October 2013

Phenotype and Clinical Outcomes of Titin Cardiomyopathy.

scientific article published in October 2017

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

scientific article published on 01 September 2021

Predicting Risk for Adult-Onset Sudden Cardiac Death in the Population

scientific article published on 11 November 2019

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

scientific article published on 29 January 2019

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

scientific article published on 17 August 2016

Recovery of Cardiac Function in Cardiomyopathy Caused by Titin Truncation.

scientific article

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy

scientific article published on 27 January 2020

Research in understudied populations offers local and global insights into the genetics of hypertrophic cardiomyopathy

scientific article published on 27 February 2020

SCN5A variants in Brugada syndrome: True, true false or false true

scientific article published on 12 November 2018

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

scientific article published on 23 October 2020

Time course toxicogenomic profiles in CD-1 mice after nontoxic and nonlethal hepatotoxic paracetamol administration

scientific article published in December 2004

Titin-truncating variants affect heart function in disease cohorts and the general population.

scientific article

Towards clinical molecular diagnosis of inherited cardiac conditions: a comparison of bench-top genome DNA sequencers

scientific article

Truncating Variants in Titin Independently Predict Early Arrhythmias in Patients With Dilated Cardiomyopathy.

scientific article published on May 2017

Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture

scientific article published on 01 January 2019

Using high-resolution variant frequencies to empower clinical genome interpretation.

scientific article published on 18 May 2017

When genetic burden reaches threshold

scientific article published on 29 April 2020

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