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R. Walsh · SciRah

Researcher profile · Semantic Scholar

R. Walsh

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R. Walsh — researcher profile on SciRah

h-index: 42
Works: 132
Citations: 7,219

Most-cited papers

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes
J. Ingles, J. Goldstein, C. Thaxton, C. Caleshu +20 more
2019Circulation Genomic and Precision Medicine359 citations Open access
Semantic Scholar
Adaptation and Validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel
M. Kelly, C. Caleshu, A. Morales, J. Buchan +24 more
2018Genetics in Medicine344 citations Open access
Semantic Scholar
Titin truncating variants affect heart function in disease cohorts and the general population
S. Schafer, A. de Marvao, E. Adami, L. Fiedler +33 more
2016Nature Genetics320 citations Open access
Semantic Scholar
An Evidence-based Assessment of Genes in Dilated Cardiomyopathy
E. Jordan, Laiken Peterson, Tomohiko Ai, B. Asatryan +30 more
2020medRxiv290 citations Open access
Semantic Scholar
Genetic Variants Associated With Cancer Therapy–Induced Cardiomyopathy
P. García-Pavía, Yuri Kim, M. A. Restrepo-Córdoba, I. G. Lunde +48 more
2019Circulation274 citations Open access
Semantic Scholar
Genetic Etiology for Alcohol-Induced Cardiac Toxicity
J. Ware, A. Amor-Salamanca, U. Tayal, R. Govind +26 more
2018Journal of the American College of Cardiology274 citations Open access
Semantic Scholar
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect
R. Tadros, C. Francis, Xiao Xu, A. Vermeer +66 more
2021Nature Genetics252 citations Open access
Semantic Scholar
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy
F. Mazzarotto, U. Tayal, R. Buchan, W. Midwinter +26 more
2020Circulation235 citations Open access
Semantic Scholar
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes
R. Walsh, R. Buchan, Alicja Wilk, S. John +12 more
2017European Heart Journal208 citations Open access
Semantic Scholar
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death
R. Walsh, A. Adler, A. Amin, E. Abiusi +16 more
2021European Heart Journal126 citations Open access
Semantic Scholar
Phenotype and Clinical Outcomes of Titin Cardiomyopathy
U. Tayal, S. Newsome, R. Buchan, N. Whiffin +18 more
2017Journal of the American College of Cardiology122 citations Open access
Semantic Scholar
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy
R. Walsh, F. Mazzarotto, N. Whiffin, R. Buchan +24 more
2018Genome Medicine118 citations Open access
Semantic Scholar
Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy
A. de Marvao, K. McGurk, Sean L. Zheng, M. Thanaj +29 more
2021Journal of the American College of Cardiology114 citations Open access
Semantic Scholar
Genome-wide association analyses identify novel Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
J. Barc, R. Tadros, C. Glinge, David Y. Chiang +152 more
2022Nature Genetics113 citations Open access
Semantic Scholar
Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies
R. Walsh, J. Offerhaus, R. Tadros, C. Bezzina
2021Nature Reviews Cardiology107 citations Open access
Semantic Scholar
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome
N. Lahrouchi, R. Tadros, L. Crotti, Y. Mizusawa +102 more
2020Circulation105 citations Open access
Semantic Scholar
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation
N. Whiffin, R. Walsh, R. Govind, M. Edwards +18 more
2018Genetics in Medicine100 citations Open access
Semantic Scholar
Complex roads from genotype to phenotype in dilated cardiomyopathy: scientific update from the Working Group of Myocardial Function of the European Society of Cardiology
A. Bondue, E. Arbustini, Anna Bianco, M. Ciccarelli +12 more
2018Cardiovascular Research91 citations Open access
Semantic Scholar
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
R. Walsh, N. Lahrouchi, R. Tadros, F. Kyndt +126 more
2020Genetics in Medicine82 citations Open access
Semantic Scholar
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
F. Mazzarotto, F. Girolami, B. Boschi, F. Barlocco +14 more
2018Genetics in Medicine80 citations Open access
Semantic Scholar
Genome-wide association studies of cardiovascular disease.
R. Walsh, S. Jurgens, J. Erdmann, C. Bezzina
2023Physiological Reviews72 citations Open access
Semantic Scholar
Truncating Variants in Titin Independently Predict Early Arrhythmias in Patients With Dilated Cardiomyopathy
U. Tayal, S. Newsome, R. Buchan, N. Whiffin +5 more
2017Journal of the American College of Cardiology72 citations Open access
Semantic Scholar
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies
F. Mazzarotto, Megan H. Hawley, M. Beltrami, L. Beekman +23 more
2021Genetics in Medicine70 citations Open access
Semantic Scholar
ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy
S. Hespe, A. Waddell, B. Asatryan, E. Owens +26 more
2025Journal of the American College of Cardiology62 citations Open access
Semantic Scholar
Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?
F. Mazzarotto, I. Olivotto, B. Boschi, F. Girolami +3 more
2020Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease58 citations Open access
Semantic Scholar
Analysis of 51 proposed Hypertrophic Cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
K. Thomson, Elizabeth Ormondroyd, A. Harper, Timothy Dent +25 more
2018Genetics in Medicine57 citations Open access
Semantic Scholar
Rare coding variant analysis for human diseases across biobanks and ancestries
S. Jurgens, Xin Wang, Seung-Ho-An Choi, Lu-Chen Weng +21 more
2024Nature Genetics56 citations Open access
Semantic Scholar
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
Xiaolei Zhang, R. Walsh, N. Whiffin, R. Buchan +31 more
2020Genetics in Medicine56 citations Open access
Semantic Scholar
When genetic burden reaches threshold
R. Walsh, R. Tadros, C. Bezzina
2020European Heart Journal54 citations Open access
Semantic Scholar
Targeted therapies in genetic dilated and hypertrophic cardiomyopathies: from molecular mechanisms to therapeutic targets. A position paper from the Heart Failure Association (HFA) and the Working Group on Myocardial Function of the European Society of Cardiology (ESC)
R. D. de Boer, S. Heymans, J. Backs, L. Carrier +15 more
2021European Journal of Heart Failure51 citations Open access
Semantic Scholar
Moderate Physical Activity in Healthy Adults Is Associated With Cardiac Remodeling
T. Dawes, B. Corden, S. Cotter, A. de Marvao +4 more
2016Circulation Cardiovascular Imaging49 citations Open access
Semantic Scholar
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy
M. Allouba, R. Walsh, A. Afify, M. Hosny +15 more
2023European Heart Journal42 citations Open access
Semantic Scholar
Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy
R. Tadros, Sean L. Zheng, C. Grace, P. Jordà +56 more
2023medRxiv38 citations Open access
Semantic Scholar
Variant Intronic Enhancer Controls SCN10A-short Expression and Heart Conduction
Joyce C. K. Man, F. Bosada, Koen T. Scholman, J. Offerhaus +8 more
2021Circulation38 citations Open access
Semantic Scholar
Recovery of Cardiac Function in Cardiomyopathy Caused by Titin Truncation
L. Felkin, R. Walsh, J. Ware, M. Yacoub +3 more
2016JAMA cardiology38 citations Open access
Semantic Scholar
Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients
Jian-Pua Chee, Nevin Tham, C. Chin, R. Walsh +39 more
2020Circulation Genomic and Precision Medicine34 citations Open access
Semantic Scholar
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
K. Josephs, A. Roberts, P. Theotokis, R. Walsh +31 more
2023Genome Medicine32 citations Open access
Semantic Scholar
Common and rare susceptibility genetic variants predisposing to Brugada Syndrome in Thailand.
P. Makarawate, C. Glinge, A. Khongphatthanayothin, R. Walsh +25 more
2020Heart Rhythm32 citations Open access
Semantic Scholar
Advantages and Perils of Clinical Whole-Exome and Whole-Genome Sequencing in Cardiomyopathy
F. Mazzarotto, I. Olivotto, R. Walsh
2020Cardiovascular Drugs and Therapy31 citations Open access
Semantic Scholar
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies
Alex Lipov, S. Jurgens, F. Mazzarotto, M. Allouba +7 more
2023Nature Cardiovascular Research29 citations Open access
Semantic Scholar
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11
Gillian Rea, T. Homfray, J. Till, F. Rosés-Noguer +16 more
2016Cold Spring Harbor molecular case studies25 citations Open access
Semantic Scholar
ALPK3: a full spectrum cardiomyopathy gene?
R. Walsh, C. Bezzina
2021European Heart Journal15 citations Open access
Semantic Scholar
Evaluation of polygenic score for hypertrophic cardiomyopathy in the general population and across clinical settings
S.-L. Zheng, S. Jurgens, K. A. McGurk, X. Xu +36 more
2023medRxiv13 citations Open access
Semantic Scholar
Illuminating the path from genetics to clinical outcome in Brugada syndrome
P. Postema, R. Walsh, C. Bezzina
2021European Heart Journal13 citations Open access
Semantic Scholar
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
Doris Škorić-Milosavljević, N. Lahrouchi, F. Bosada, G. Dombrowsky +51 more
2021Genetics in Medicine13 citations Open access
Semantic Scholar
An assessment of the role of loss of function Vinculin (VCL) variants in inherited cardiomyopathy
Megan H. Hawley, N. Almontashiri, L. Biesecker, Natalie Berger +18 more
2020Human Mutation13 citations Open access
Semantic Scholar
The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort
Y. Aguib, M. Allouba, A. Afify, S. Halawa +25 more
2020npj Genomic Medicine13 citations Open access
Semantic Scholar
ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy
S. Hespe, A. Waddell, B. Asatryan, E. Owens +26 more
2024medRxiv11 citations Open access
Semantic Scholar
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.
N. Whiffin, A. Roberts, E. Minikel, Z. Zappala +12 more
2019American Journal of Human Genetics11 citations Open access
Semantic Scholar
Titin truncating variants affect heart function in disease cohorts and the general population
S. Schafer, A. de Marvao, E. Adami, L. Fiedler +37 more
201610 citations
Semantic Scholar

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