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Publications

Rare coding variant analysis for human diseases across biobanks and ancestries.

Jurgens SJ, Wang X, Choi SH, et al. Rare coding variant analysis for human diseases across biobanks and ancestries. Nature genetics. 2024. doi:10.1038/s41588-024-01894-5

CH-π Interactions Are Required for Human Galectin-3 Function.

Diehl RC, Chorghade RS, Keys AM, et al. CH-π Interactions Are Required for Human Galectin-3 Function. JACS Au. 2024;4(8):3028-3037. doi:10.1021/jacsau.4c00357

Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.

Zuriaga MA, Yu Z, Matesanz N, et al. Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis. European heart journal. 2024. doi:10.1093/eurheartj/ehae546

CD4 T cells re-wire granuloma cellularity and regulatory networks to promote immunomodulation following Mtb reinfection.

Bromley JD, Ganchua SKC, Nyquist SK, et al. CD4 T cells re-wire granuloma cellularity and regulatory networks to promote immunomodulation following Mtb reinfection. Immunity. 2024. doi:10.1016/j.immuni.2024.08.002

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.

Mohan S, McNulty S, Thaxton C, et al. Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy. Annals of clinical and translational neurology. 2024. doi:10.1002/acn3.52127

Experimental and Computational Methods for Allelic Imbalance Analysis from Single-Nucleus RNA-seq Data.

Simmons SK, Adiconis X, Haywood N, et al. Experimental and Computational Methods for Allelic Imbalance Analysis from Single-Nucleus RNA-seq Data. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.08.13.607784

Evaluation of the psychometric properties of the UBACC questionnaire in a multi-country psychiatric study in Africa.

Kipkemoi P, Mufford MS, Akena D, et al. Evaluation of the psychometric properties of the UBACC questionnaire in a multi-country psychiatric study in Africa. Comprehensive psychiatry. 2024;135:152526. doi:10.1016/j.comppsych.2024.152526

An increased copy number of glycine decarboxylase (GLDC) associated with psychosis reduces extracellular glycine and impairs NMDA receptor function.

Kambali M, Li Y, Unichenko P, et al. An increased copy number of glycine decarboxylase (GLDC) associated with psychosis reduces extracellular glycine and impairs NMDA receptor function. Molecular psychiatry. 2024. doi:10.1038/s41380-024-02711-5

An autoimmune transcriptional circuit drives FOXP3 regulatory T cell dysfunction.

Sumida TS, Lincoln MR, He L, et al. An autoimmune transcriptional circuit drives FOXP3 regulatory T cell dysfunction. Science translational medicine. 2024;16(762):eadp1720. doi:10.1126/scitranslmed.adp1720

An autoimmune transcriptional circuit drives FOXP3 regulatory T cell dysfunction.

Sumida TS, Lincoln MR, He L, et al. An autoimmune transcriptional circuit drives FOXP3 regulatory T cell dysfunction. Science translational medicine. 2024;16(762):eadp1720. doi:10.1126/scitranslmed.adp1720