Roddy Walsh

3001

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35 Article
8 Review article
5 Editorial
4 Comment/Letter to the editor
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- 2 Erratum/Corrigendum

Brugada Syndrome: an exemplar for the genomic basis of sudden death
Griffiths, R. L. M., Walsh, R., Futema, M., Specterman, M. & Behr, E. R., 2025, (E-pub ahead of print) In: European journal of human genetics.
Research output: Contribution to journal › Review article › Academic › peer-review

Open Access
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15 Downloads (Pure)
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, Stafford, F., Bagnall, R. D., Bronicki, L., Callewaert, B., Chahal, C. A. A., James, C. A., Jarinova, O., Landstrom, A. P., Mcnally, E. M., Muiño-Mosquera, L., Parikh, V., Walsh, R., Wayburn, B., Ware, J. S., Parker, B. L., Porrello, E. R., Elliott, D. A., Mcnamara, J. W. & Ingles, J., 1 Jun 2025, In: Circulation: Genomic and Precision Medicine. 18, 3, e004976.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
File

16 Downloads (Pure)
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, de Marvao, A., Pantazis, A., Baksi, J., Halliday, B. P., Matthews, P., Pinto, Y. M., Walsh, R., Amin, A. S., Wilde, A. A. M., Cook, S. A., Prasad, S. K., Barton, P. J. R., O’Regan, D. P., Lumbers, R. T., Goel, A., Tadros, R., Michels, M., Watkins, H., Bezzina, C. R. & HCM GWAS Collaborators, Mar 2025, In: Nat. Genet.. 57, 3, p. 563-571 9 p., 3328.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
File
26 Downloads (Pure)
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, Landstrom, A. P., McNally, E. M., Murray, B., Muiño-Mosquera, L., Parikh, V., Reuter, C., Walsh, R., Wayburn, B., Ware, J. S. & Ingles, J., 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

Open Access
File
217 Downloads (Pure)
Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy
Hypergenes InterOmics Collaborators & HCMR Investigators, Mar 2025, In: Nature genetics. 57, 3, p. 530-538 9 p., 1826.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
File
27 Downloads (Pure)

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
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

Roddy Walsh

Fingerprint

Collaborations and top research areas from the last five years

Dive into details

Brugada Syndrome: an exemplar for the genomic basis of sudden death

Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy

Evaluation of polygenic scores for hypertrophic cardiomyopathy in the general population and across clinical settings

Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel

Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy

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

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

Roddy Walsh

Fingerprint

Collaborations and top research areas from the last five years

Research output

Brugada Syndrome: an exemplar for the genomic basis of sudden death

Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy

Evaluation of polygenic scores for hypertrophic cardiomyopathy in the general population and across clinical settings

Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel

Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy

Datasets

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

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