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Publications

Genetics of sexually dimorphic adipose distribution in humans.

Hansen GT, Sobreira DR, Weber ZT, et al. Genetics of sexually dimorphic adipose distribution in humans. Nature genetics. 2023;55(3):461-470. doi:10.1038/s41588-023-01306-0

Quantitative Phenotype Morbidity Description of -Associated Syndrome.

Zarate YA, Kannan A, Thomason A, et al. Quantitative Phenotype Morbidity Description of -Associated Syndrome. Human mutation. 2023;2023:8200176. doi:10.1155/2023/8200176

Quantitative Phenotype Morbidity Description of -Associated Syndrome.

Zarate YA, Bosanko K, Kannan A, et al. Quantitative Phenotype Morbidity Description of -Associated Syndrome. Human mutation. 2023;2023:8200176. doi:10.1155/2023/8200176

Heterogeneous effects on type 2 diabetes and cardiovascular outcomes of genetic variants and traits associated with fasting insulin.

Manning A, Sevilla-Gonzalez M, Smith K, et al. Heterogeneous effects on type 2 diabetes and cardiovascular outcomes of genetic variants and traits associated with fasting insulin. Research square. 2023. doi:10.21203/rs.3.rs-3317661/v1

Systematic identification of anticancer drug targets reveals a nucleus-to-mitochondria ROS-sensing pathway.

Zhang J, Simpson C, Berner J, et al. Systematic identification of anticancer drug targets reveals a nucleus-to-mitochondria ROS-sensing pathway. Cell. 2023;186(11):2361-2379.e25. doi:10.1016/j.cell.2023.04.026

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