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Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
Josephs, K. S., Roberts, A. M., Theotokis, P., Walsh, R., Ostrowski, P. J., Edwards, M., Fleming, A., Thaxton, C., Roberts, J. D., Care, M., Zareba, W., Adler, A., Sturm, A. C., Tadros, R., Novelli, V., Owens, E., Bronicki, L., Jarinova, O., Callewaert, B., Peters, S., & 15 others , 1 Dec 2023, In: Genome Medicine. 15, 1, 86.Research output: Contribution to journal › Article › Academic › peer-review
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Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies
Lipov, A., Jurgens, S. J., Mazzarotto, F., Allouba, M., Pirruccello, J. P., Aguib, Y., Gennarelli, M., Yacoub, M. H., Ellinor, P. T., Bezzina, C. R. & Walsh, R., Nov 2023, In: Nature cardiovascular research. 2, 11, p. 1078-1094 17 p.Research output: Contribution to journal › Article › Academic › peer-review
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Genome-wide association studies of cardiovascular disease
Walsh, R., Jurgens, S. J., Erdmann, J. & Bezzina, C. R., 1 Jul 2023, In: Physiological Reviews. 103, 3, p. 2039-2055 17 p.Research output: Contribution to journal › Review article › Academic › peer-review
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