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Publications

A pooled electronic consultation program to improve access to genetics specialists.

Folkerts EK, Pelletier RC, Chung DC, et al. A pooled electronic consultation program to improve access to genetics specialists. Genetics in medicine open. 2023;1(1):100819. doi:10.1016/j.gimo.2023.100819

Integrative proteomic analyses across common cardiac diseases yield new mechanistic insights and enhanced prediction.

Schuermans A, Pournamdari AB, Lee J, et al. Integrative proteomic analyses across common cardiac diseases yield new mechanistic insights and enhanced prediction. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.12.19.23300218

Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.

Willems SM, Ng NHJ, Fernandez J, et al. Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization. Wellcome open research. 2023;8:483. doi:10.12688/wellcomeopenres.18754.1

First-Tier Next Generation Sequencing for Newborn Screening: An Important Role for Biochemical Second-Tier Testing.

Stenton SL, Campagna M, Philippakis A, O’Donnell-Luria A, Gelb MH. First-Tier Next Generation Sequencing for Newborn Screening: An Important Role for Biochemical Second-Tier Testing. Genetics in medicine open. 2023;1(1). doi:10.1016/j.gimo.2023.100821

Loss-of-function mutations in Dnmt3a and Tet2 lead to accelerated atherosclerosis and concordant macrophage phenotypes.

Rauch PJ, Gopakumar J, Silver AJ, et al. Loss-of-function mutations in Dnmt3a and Tet2 lead to accelerated atherosclerosis and concordant macrophage phenotypes. Nature cardiovascular research. 2023;2(9):805-818. doi:10.1038/s44161-023-00326-7

Polygenic Background Modifies Risk of Coronary Artery Disease Among Individuals With Heterozygous Familial Hypercholesterolemia.

Reeskamp LF, Shim I, Dron JS, et al. Polygenic Background Modifies Risk of Coronary Artery Disease Among Individuals With Heterozygous Familial Hypercholesterolemia. JACC. Advances. 2023;2(9):100662. doi:10.1016/j.jacadv.2023.100662

Integrating Indices of Genetic Risk for Cardiovascular Disease.

Honigberg MC, Faaborg-Andersen CC. Integrating Indices of Genetic Risk for Cardiovascular Disease. JACC. Advances. 2023;2(7):100568. doi:10.1016/j.jacadv.2023.100568

Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification.

de Vries PS, Conomos MP, Singh K, et al. Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification. Nature cardiovascular research. 2023;2(12):1159-1172. doi:10.1038/s44161-023-00375-y

Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification.

de Vries PS, Conomos MP, Singh K, et al. Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification. Nature cardiovascular research. 2023;2(12):1159-1172. doi:10.1038/s44161-023-00375-y

Federated benchmarking of medical artificial intelligence with MedPerf.

Karargyris A, Umeton R, Sheller MJ, et al. Federated benchmarking of medical artificial intelligence with MedPerf. Nature machine intelligence. 2023;5(7):799-810. doi:10.1038/s42256-023-00652-2