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Publications

The Data Distillery: A Graph Framework for Semantic Integration and Querying of Biomedical Data.

Ahooyi TM, Stear B, Simmons A, et al. The Data Distillery: A Graph Framework for Semantic Integration and Querying of Biomedical Data. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.08.11.666099

Steroid hormone biosynthesis and dietary related metabolites associated with excessive daytime sleepiness.

Faquih T, Potts KS, Nagarajan P, et al. Steroid hormone biosynthesis and dietary related metabolites associated with excessive daytime sleepiness. EBioMedicine. 2025;119:105881. doi:10.1016/j.ebiom.2025.105881

Phenome-wide association study of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank.

Davis SM, Liu A, Teerlink CC, et al. Phenome-wide association study of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank. American journal of human genetics. 2025;112(9):2088-2101. doi:10.1016/j.ajhg.2025.07.017

"Loss of function in protein Z (PROZ) is associated with increased risk of ischemic stroke in the UK Biobank": reply.

Haj AK, Bendapudi PK. "Loss of function in protein Z (PROZ) is associated with increased risk of ischemic stroke in the UK Biobank": reply. Journal of thrombosis and haemostasis : JTH. 2025;23(9):3009-3010. doi:10.1016/j.jtha.2025.05.019

Exogenous estrogen enhances T cell activation in male primates.

Hahn PA, Escrivà-Font J, Alexander ES, et al. Exogenous estrogen enhances T cell activation in male primates. Cell reports. 2025;44(9):116170. doi:10.1016/j.celrep.2025.116170

Activation of polo-like kinase 1 correlates with selective motor neuron vulnerability in familial ALS.

Szewczyk B, Zimyanin V, Japtok J, et al. Activation of polo-like kinase 1 correlates with selective motor neuron vulnerability in familial ALS. Cell reports. 2025;44(9):116113. doi:10.1016/j.celrep.2025.116113

Cell Type Distribution of Intrathecal Antisense Oligonucleotide Activity in Deep Brain Regions of Non-Human Primates.

Frei JA, Gentile JE, Lian Y, et al. Cell Type Distribution of Intrathecal Antisense Oligonucleotide Activity in Deep Brain Regions of Non-Human Primates. Nucleic acid therapeutics. 2025. doi:10.1177/21593337251371594

IL6 genetic perturbation mimicking IL-6 inhibition is associated with lower cardiometabolic risk.

Zhang L, Omarov M, Xu L, deGoma E, Natarajan P, Georgakis MK. IL6 genetic perturbation mimicking IL-6 inhibition is associated with lower cardiometabolic risk. Nature cardiovascular research. 2025;4(9):1172-1186. doi:10.1038/s44161-025-00700-7

Author Correction: Disease-associated astrocyte epigenetic memory promotes CNS pathology.

Lee HG, Rone JM, Li Z, et al. Author Correction: Disease-associated astrocyte epigenetic memory promotes CNS pathology. Nature. 2025;645(8081):E5. doi:10.1038/s41586-025-09546-2

Author Correction: Complex genetic variation in nearly complete human genomes.

Logsdon GA, Ebert P, Audano PA, et al. Author Correction: Complex genetic variation in nearly complete human genomes. Nature. 2025;645(8081):E6. doi:10.1038/s41586-025-09547-1