Research output per year
Research output per year
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Dive into the research topics where Roddy Walsh is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy
Hespe, S., Singer, E. S., Reuter, C., Murray, B., Jordan, E., Chowns, J., Peters, S., Mayers, M., Gray, B., Hershberger, R. E., Owens, A., Semsarian, C., Waddell, A., Asatryan, B., Owens, E., Thaxton, C., Adduru, M.-L., Anderson, K., Brown, E. E. & Hoffman-Andrews, L. & 19 others, , 2025, (E-pub ahead of print) In: Circulation: Genomic and Precision Medicine. e004976.Research output: Contribution to journal › Article › Academic › peer-review
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Evaluation of polygenic scores for hypertrophic cardiomyopathy in the general population and across clinical settings
Zheng, S. L., Jurgens, S. J., McGurk, K. A., Xu, X., Grace, C., Theotokis, P. I., Buchan, R. J., Francis, C., de Marvao, A., Curran, L., Bai, W., Pua, C. J., Tang, H. C., Jorda, P., van Slegtenhorst, M. A., Verhagen, J. M. A., Harper, A. R., Ormondroyd, E., Chin, C. W. L. & Ware, J. S. & 20 others, , Mar 2025, In: Nat. Genet.. 57, 3, p. 563-571 9 p., 3328.Research output: Contribution to journal › Article › Academic › peer-review
Open Access3 Citations (Scopus) -
Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel
Hespe, S., Waddell, A., Asatryan, B., Owens, E., Thaxton, C., Adduru, M.-L., Anderson, K., Brown, E. E., Hoffman-Andrews, L., Jordan, E., Josephs, K., Mayers, M., Peters, S., Stafford, F., Bagnall, R. D., Bronicki, L., Callewaert, B., Chahal, C. A. A., James, C. A. & Jarinova, O. & 10 others, , 25 Feb 2025, In: Journal of the American College of Cardiology. 85, 7, p. 727-740 14 p.Research output: Contribution to journal › Article › Academic › peer-review
7 Citations (Scopus) -
A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand
Walsh, R., Mauleekoonphairoj, J., Mengarelli, I., Bosada, F. M., Verkerk, A. O., Van Duijvenboden, K., Poovorawan, Y., Wongcharoen, W., Sutjaporn, B., Wandee, P., Chimparlee, N., Chokesuwattanaskul, R., Vongpaisarnsin, K., Dangkao, P., Wu, C. I., Tadros, R., Amin, A. S., Lieve, K. V. V., Postema, P. G. & Kooyman, M. & 25 others, , 2024, (Accepted/In press) In: Circulation.Research output: Contribution to journal › Article › Academic › peer-review
5 Citations (Scopus) -
Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance
Murphy, J., Kirk, C. W., Lambert, D. M., McGorrian, C., Walsh, R., McVeigh, T. P., Prendiville, T., Ward, D., Galvin, J. & Lynch, S. A., 1 Aug 2024, In: Irish Journal of Medical Science. 193, 4, p. 1775-1785 11 p.Research output: Contribution to journal › Article › Academic › peer-review
2 Citations (Scopus)
Datasets
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Additional file 1: of Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy
Walsh, R. (Creator), Mazzarotto, F. (Creator), Whiffin, N. (Creator), Buchan, R. (Creator), Midwinter, W. (Creator), Wilk, A. (Creator), Li, N. (Creator), Felkin, L. (Creator), Ingold, N. (Creator), Govind, R. (Creator), Ahmad, M. (Creator), Mazaika, E. (Creator), Allouba, M. (Creator), Zhang, X. (Creator), De Marvao, A. (Contributor), Day, S. M. (Creator), Ashley, E. (Creator), Colan, S. D. (Creator), Michels, M. (Creator), Pereira, A. C. (Creator), Jacoby, D. (Creator), Ho, C. Y. (Creator), Thomson, K. L. (Creator), Watkins, H. (Creator), Barton, P. J. R. (Creator), Olivotto, I. (Creator), Cook, S. A. (Creator) & Ware, J. S. (Creator), Figshare, 2019
DOI: 10.6084/m9.figshare.7648508, https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Quantitative_approaches_to_variant_classification_increase_the_yield_and_precision_of_genetic_testing_in_Mendelian_diseases_the_case_of_hypertrophic_cardiomyopathy/7648508
Dataset
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Additional file 1: of Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy
Walsh, R. (Creator), Mazzarotto, F. (Creator), Whiffin, N. (Creator), Buchan, R. (Creator), Midwinter, W. (Creator), Wilk, A. (Creator), Li, N. (Creator), Felkin, L. (Creator), Ingold, N. (Creator), Govind, R. (Creator), Ahmad, M. (Creator), Mazaika, E. (Creator), Allouba, M. (Creator), Zhang, X. (Creator), De Marvao, A. (Contributor), Day, S. M. (Creator), Ashley, E. (Creator), Colan, S. D. (Creator), Michels, M. (Creator), Pereira, A. C. (Creator), Jacoby, D. (Creator), Ho, C. Y. (Creator), Thomson, K. L. (Creator), Watkins, H. (Creator), Barton, P. J. R. (Creator), Olivotto, I. (Creator), Cook, S. A. (Creator) & Ware, J. S. (Creator), Figshare, 2019
DOI: 10.6084/m9.figshare.7648508.v1, https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Quantitative_approaches_to_variant_classification_increase_the_yield_and_precision_of_genetic_testing_in_Mendelian_diseases_the_case_of_hypertrophic_cardiomyopathy/7648508/1
Dataset