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Dr Roddy Walsh

Lecturer
Researcher into the genetics of heritable cardiac diseases
Cardiovascular & Genomics Research Institute

Dr Walsh is a genomics scientist whose research focuses on investigating the genetic basis of heritable cardiac conditions - cardiomyopathies and inherited arrhythmia syndromes that are associated with sudden cardiac death in young people. The genetic architecture of these conditions is characterised by complex interplay between rare and common genetic risk factors and environmental modifiers. His research seeks to identify and validate novel disease genes and variant classes to enable comprehensive genetic risk profiling in patients, families and the general population.

Dr Walsh collaborates widely with colleagues in the Netherlands, Italy, Spain, Egypt, Thailand, Australia and the USA. His work has been published in leading high impact journals such as Circulation, Nature Cardiovascular Research, European Heart Journal, Genome Medicine and Nature Reviews Cardiology. He also delivers lectures on various topics in genomics for undergraduate and MSc courses.

 

 

Selected publications

A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand. Walsh R*, Mauleekoonphairoj J*, Mengarelli I*, ... Nademanee K*, Bezzina CR*, Khongphatthanayothin A*. Circulation 2025 151(1):31-44.

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies. Lipov A, Jurgens SJ, Mazzarotto F, Allouba M, Pirruccello JP, Aguib Y, Gennarelli M, Yacoub MH, Ellinor PT, Bezzina CR, Walsh R. Nature Cardiovascular Research 2023 2(11):1078-1094.

Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy. Allouba M*, Walsh R*, Afify A, Hosny M, Halawa S, Galal A, Fathy M, Theotokis PI, Boraey A, Ellithy A, Buchan R, Govind R, Whiffin N, Anwer S, El Guindy A, Ware JS*, Barton PJR*, Yacoub M*, Aguib Y*. European Heart Journal 2023 44(48):5146-5158.

Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death. Walsh R*, Adler A*, Amin AS, Abiusi E, Care M, Bikker H, Amenta S, Feilotter H, Nannenberg EA, Mazzarotto F, Trevisan V, Garcia J, Hershberger RE, Perez MV, Sturm AC, Ware JS, Zareba W, Novelli V, Wilde AAM*, Gollob MH*. European Heart Journal 2022 43(15):1500-1510.

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies. Mazzarotto F, Hawley MH, Beltrami M, Beekman L, de Marvao A, McGurk KA, Statton B, Boschi B, Girolami F, Roberts AM, Lodder EM, Allouba M, Romeih S, Aguib Y, Baksi AJ, Pantazis A, Prasad SK, Cerbai E, Yacoub MH, O'Regan DP, Cook SA, Ware JS, Funke B, Olivotto I, Bezzina CR, Barton PJR, Walsh R. Genetics in Medicine 2021 23:856–864.

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls. Walsh R, Lahrouchi N, Tadros R, ….. Behr ER, Barc J, Bezzina CR. Genetics in Medicine 2021 23:47-58.

Re-evaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy. Mazzarotto F*, Tayal U*, Buchan RJ, Midwinter W, Wilk A, Whiffin N, Govind R, Mazaika E, de Marvao A, Dawes TJW, Felkin LE, Ahmad M, Theotokis PI, Edwards E, Ing AY, Thomson KL, Chan LLH, Sim D, Baksi AJ, Pantazis A, Roberts AM, Watkins H, Funke B, O'Regan DP, Olivotto I, Barton PJR, Prasad SK, Cook SA, Ware JS*, Walsh R*. Circulation. 2020 141(5):387-398.

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy. Walsh R, Mazzarotto F, Whiffin N, Buchan R, Midwinter W, Wilk A, Li N, Felkin L, Ingold N, Govind R, Ahmad M, Mazaika E, Allouba M, Zhang X, de Marvao A, Day SM, Ashley E, Colan SD, Michels M, Pereira AC, Jacoby D, Ho CY, Thomson KL, Watkins H, Barton PJR, Olivotto I, Cook SA, Ware JS. Genome Medicine 2019 11(1):5.

Defining the genetic architecture of hypertrophic cardiomyopathy: re- evaluating the role of non-sarcomeric genes. Walsh R, Buchan R, Wilk A, John S, Felkin LE, Thomson KL, Chiaw TH, Loong CCW, Pua CJ, Raphael C, Prasad S, Barton PJ, Funke B, Watkins H, Ware JS, Cook SA. European Heart Journal 2017 38(46):3461-3468.

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Walsh R*, Thomson KL*, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, Exome Aggregation Consortium, MacArthur DG, Farrall M, Cook SA*, Watkins H*. Genetics in Medicine 2017 19(2):192-203.

 

Selected review articles

Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies. Walsh R, Offerhaus JA, Tadros R, Bezzina CR. Nature Reviews Cardiology 2022 19(3):151-167.

Genome-wide association studies of cardiovascular disease. Walsh R, Jurgens SJ, Erdmann J, Bezzina CR. Physiological Reviews 2023 103(3):2039-2055.

The Trouble with Trabeculation: How Genetics Can Help to Unravel a Complex and Controversial Phenotype. Walsh R. Journal of Cardiovascular Translational Research 2023 16(6):1310-1324.

When genetic burden reaches threshold. Walsh R, Tadros R, Bezzina CR. European Heart Journal 2020 41(39):3849-3855.

Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing? Mazzarotto F, Olivotto I, Boschi B, Girolami F, Poggesi C, Barton PJR, Walsh R. JAHA 2020 9(8):e015473.

 

For a complete list of publications, see Google Scholar, ResearchGate or ORCID profiles.

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