Publications

Gene-based calibration of high-throughput functional assays for clinical variant classification.

Zeiberg D, Tejura M, McEwen AE, et al. Gene-based calibration of high-throughput functional assays for clinical variant classification. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.04.29.651326

Sialylated CD43 is a glyco-immune checkpoint for macrophage phagocytosis.

Chung J, Vallurupalli M, Noel S, et al. Sialylated CD43 is a glyco-immune checkpoint for macrophage phagocytosis. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.05.05.652090

MYH11 rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload.

Zhou Z, Hughes K, Saif N, et al. MYH11 rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload. PLoS genetics. 2025;21(7):e1011394. doi:10.1371/journal.pgen.1011394

The effects of low-dose colchicine on the progression of aortic valve stenosis: Rationale, design, and baseline characteristics of the Colchicine and Inflammation in Aortic Stenosis (CHIANTI) trial.

Mohammadnia N, Vestjens LTW, Craig NJ, et al. The effects of low-dose colchicine on the progression of aortic valve stenosis: Rationale, design, and baseline characteristics of the Colchicine and Inflammation in Aortic Stenosis (CHIANTI) trial. American heart journal. 2025;290:297-309. doi:10.1016/j.ahj.2025.07.010

Uncovering methylation-dependent genetic effects on regulatory element function in diverse genomes.

Petersen RM, Vockley CM, Lea AJ. Uncovering methylation-dependent genetic effects on regulatory element function in diverse genomes. Genome research. 2025;35(8):1781-1793. doi:10.1101/gr.279957.124

Tracking Plasmodium falciparum antimalarial resistance markers during a malaria pre-elimination period in the Pacific coast of South America.

Ñacata I, Early AM, Boboy J, Neafsey DE, Sáenz FE. Tracking Plasmodium falciparum antimalarial resistance markers during a malaria pre-elimination period in the Pacific coast of South America. Scientific reports. 2025;15(1):25376. doi:10.1038/s41598-025-10500-5

An expanded subventricular zone supports postnatal cortical interneuron migration in gyrencephalic brains.

Kim J, Poddar A, Sandoval K, et al. An expanded subventricular zone supports postnatal cortical interneuron migration in gyrencephalic brains. Nature neuroscience. 2025;28(8):1598-1609. doi:10.1038/s41593-025-01987-2

Regulatory T Cell Dysregulation in Vitiligo: A Meta-Analysis and Systematic Review of Immune Mechanisms and Therapeutic Perspectives.

Lerner G, Nikolaou M, Stoffel C, et al. Regulatory T Cell Dysregulation in Vitiligo: A Meta-Analysis and Systematic Review of Immune Mechanisms and Therapeutic Perspectives. International journal of dermatology. 2025. doi:10.1111/ijd.17959

BCS1L-Associated Disease: 5'-UTR Variant Shifts the Phenotype Towards Axonal Neuropathy.

Orbach R, Maio N, Butterfield RJ, et al. BCS1L-Associated Disease: 5’-UTR Variant Shifts the Phenotype Towards Axonal Neuropathy. Annals of clinical and translational neurology. 2025;12(9):1834-1845. doi:10.1002/acn3.70108

Pathway-specific polygenic scores substantially increase the discovery of gene-adiposity interactions impacting liver biomarkers.

Westerman KE, Chasman DI, Gauderman J, Durvasula A. Pathway-specific polygenic scores substantially increase the discovery of gene-adiposity interactions impacting liver biomarkers. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2025.05.19.25327939

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Publications

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