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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, , 1 Jun 2025, In: Circulation: Genomic and Precision Medicine. 18, 3, 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
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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
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