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Publications

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.

Brooks D, Burke E, Lee S, et al. Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics. 2024. doi:10.1007/s00439-024-02657-2

The Role of Genetics in Advancing Cardiometabolic Drug Development.

Abou-Karam R, Cheng F, Gady S, Fahed AC. The Role of Genetics in Advancing Cardiometabolic Drug Development. Current atherosclerosis reports. 2024. doi:10.1007/s11883-024-01195-6

A concerted neuron-astrocyte program declines in ageing and schizophrenia.

Ling E, Nemesh J, Goldman M, et al. A concerted neuron-astrocyte program declines in ageing and schizophrenia. Nature. 2024. doi:10.1038/s41586-024-07109-5

Lupus autoantibodies initiate neuroinflammation sustained by continuous HMGB1:RAGE signaling and reversed by increased LAIR-1 expression.

Carroll KR, Mizrachi M, Simmons S, et al. Lupus autoantibodies initiate neuroinflammation sustained by continuous HMGB1:RAGE signaling and reversed by increased LAIR-1 expression. Nature immunology. 2024. doi:10.1038/s41590-024-01772-6

Gamma entrainment using audiovisual stimuli alleviates chemobrain pathology and cognitive impairment induced by chemotherapy in mice.

Kim T, James BT, Kahn MC, et al. Gamma entrainment using audiovisual stimuli alleviates chemobrain pathology and cognitive impairment induced by chemotherapy in mice. Science translational medicine. 2024;16(737):eadf4601. doi:10.1126/scitranslmed.adf4601

Circulating N-lactoyl-amino acids and N-formyl-methionine reflect mitochondrial dysfunction and predict mortality in septic shock.

Rogers RS, Sharma R, Shah HB, et al. Circulating N-lactoyl-amino acids and N-formyl-methionine reflect mitochondrial dysfunction and predict mortality in septic shock. Metabolomics : Official journal of the Metabolomic Society. 2024;20(2):36. doi:10.1007/s11306-024-02089-z

Riboformer: a deep learning framework for predicting context-dependent translation dynamics.

Shao B, Yan J, Zhang J, Liu L, Chen Y, Buskirk AR. Riboformer: a deep learning framework for predicting context-dependent translation dynamics. Nature communications. 2024;15(1):2011. doi:10.1038/s41467-024-46241-8

Author Correction: Subclonal cooperation drives metastasis by modulating local and systemic immune microenvironments.

Janiszewska M, Tabassum DP, Castaño Z, et al. Author Correction: Subclonal cooperation drives metastasis by modulating local and systemic immune microenvironments. Nature cell biology. 2024. doi:10.1038/s41556-024-01385-z

Multi-ancestry polygenic mechanisms of type 2 diabetes.

Smith K, Deutsch AJ, McGrail C, et al. Multi-ancestry polygenic mechanisms of type 2 diabetes. Nature medicine. 2024. doi:10.1038/s41591-024-02865-3

Evaluating the performance of Plasmodium falciparum genetic metrics for inferring National Malaria Control Programme reported incidence in Senegal.

Wong W, Schaffner SF, Thwing J, et al. Evaluating the performance of Plasmodium falciparum genetic metrics for inferring National Malaria Control Programme reported incidence in Senegal. Malaria journal. 2024;23(1):68. doi:10.1186/s12936-024-04897-z