Amsterdam Cardiovascular Sciences

Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants

García Hernandez, S., de la Higuera Romero, L., Fernandez, A., Luisa Peña Peña, M., Mora-Ayestaran, N., Basurte-Elorz, M. T., Larrañaga-Moreira, J. M., Cárdenas Reyes, I., Villacorta, E., Valverde-Gómez, M., Baustista-Paves, A., Veira Villanueva, E., Ortiz-Genga, M., Lipov, A., Brogger, N., Sabater Molina, M., Moreno-Escobar, E., Ruiz-Guerrero, L., Syrris, P. & Fernández, X. & 9 others, Piqueras-Flores, J., Amor Salamanca, A., Bezzina, C. R., Elliott, P. M., Barriales-Villa, R., Gimeno-Blanes, J. R., García-Pavía, P., Walsh, R. & Ochoa, J. P., 14 Oct 2025, In: Circulation. 152, 15, p. 1060-1075 16 p.

Research output: Contribution to journal › Article › Academic › peer-review

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

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