Publications

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

Functional variants in the TAS2R38 bitter taste receptor associate with postprandial glycemia.

Gervis JE, Westerman KE, Cole JB, Merino J, Cromer SJ, Udler MS. Functional variants in the TAS2R38 bitter taste receptor associate with postprandial glycemia. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2025.05.23.25328232

Polygenic Scores for Schizophrenia and Educational Attainment Predict Global Functioning Across Psychiatric Hospitalization Among People with Schizophrenia.

Giangrande EJ, Kämpe A, Suvisaari J, et al. Polygenic Scores for Schizophrenia and Educational Attainment Predict Global Functioning Across Psychiatric Hospitalization Among People with Schizophrenia. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2025.05.20.25328039

Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.

Welland MJ, Ahlquist KD, De Fazio P, et al. Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts. medRxiv : the preprint server for health sciences. 2025. doi:10.1101/2025.05.19.25327921

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Publications

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