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Publications

PAD4 aggravates diabetic kidney disease by driving macrophage migration.

Hou D, Yu T. PAD4 aggravates diabetic kidney disease by driving macrophage migration. Molecular therapy : the journal of the American Society of Gene Therapy. 2025. doi:10.1016/j.ymthe.2025.12.017

MIRAGE: A Bayesian statistical method for gene-level rare-variant analysis incorporating functional annotations.

Han S, Sun X, Sloofman L, et al. MIRAGE: A Bayesian statistical method for gene-level rare-variant analysis incorporating functional annotations. American journal of human genetics. 2025. doi:10.1016/j.ajhg.2025.11.013

Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability.

Lundie B, Chai SY, Byrne AB, et al. Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability. The Journal of molecular diagnostics : JMD. 2025. doi:10.1016/j.jmoldx.2025.11.006

Genome-scale spatial mapping of the Hodgkin lymphoma microenvironment identifies tumor cell survival factors.

Shanmugam V, Tokcan N, Chafamo D, et al. Genome-scale spatial mapping of the Hodgkin lymphoma microenvironment identifies tumor cell survival factors. Nature communications. 2025. doi:10.1038/s41467-025-67539-1

Protocol for the preparation and analysis of patient-derived organotypic tumor spheroids.

Palin CA, Jenkins RW, Revach OY. Protocol for the preparation and analysis of patient-derived organotypic tumor spheroids. STAR protocols. 2025;7(1):104286. doi:10.1016/j.xpro.2025.104286

Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectives.

Martinez E, Serrano J, Abouhala S, et al. Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectives. Genetics in medicine : official journal of the American College of Medical Genetics. 2025:101667. doi:10.1016/j.gim.2025.101667

Synthesis and Biological Evaluation of Colibactin Derivatives.

Airan Y, Fedorova O, Heer C, et al. Synthesis and Biological Evaluation of Colibactin Derivatives. ACS chemical biology. 2025. doi:10.1021/acschembio.5c00639

Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk.

Kany S, Rämö JT, Hou C, et al. Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk. Nature genetics. 2025. doi:10.1038/s41588-025-02397-7

Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction.

Small AM, Yang TY, Itoh S, et al. Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction. Nature genetics. 2025. doi:10.1038/s41588-025-02417-6

Simulated patient systems powered by large language model-based AI agents offer potential for transforming medical education.

Yu H, Zhou J, Li L, et al. Simulated patient systems powered by large language model-based AI agents offer potential for transforming medical education. Communications medicine. 2025. doi:10.1038/s43856-025-01283-x