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Publications

cAMP/PKA signaling regulates TDP-43 aggregation and mislocalization.

Ho DM, Shaban M, Mahmood F, et al. cAMP/PKA signaling regulates TDP-43 aggregation and mislocalization. Proceedings of the National Academy of Sciences of the United States of America. 2024;121(24):e2400732121. doi:10.1073/pnas.2400732121

Comparative analysis of Bcl-2 family protein overexpression in CAR T cells alone and in combination with BH3 mimetics.

Korell F, Olson ML, Salas-Benito D, et al. Comparative analysis of Bcl-2 family protein overexpression in CAR T cells alone and in combination with BH3 mimetics. Science translational medicine. 2024;16(750):eadk7640. doi:10.1126/scitranslmed.adk7640

Genome Sequencing for Diagnosing Rare Diseases.

Wojcik MH, Lemire G, Berger E, et al. Genome Sequencing for Diagnosing Rare Diseases. The New England journal of medicine. 2024;390(21):1985-1997. doi:10.1056/NEJMoa2314761

Epigenetic and proteomic signatures associate with clonal hematopoiesis expansion rate.

Mack TM, Raddatz MA, Pershad Y, et al. Epigenetic and proteomic signatures associate with clonal hematopoiesis expansion rate. Nature aging. 2024. doi:10.1038/s43587-024-00647-7

Gut microbiome shifts in people with type 1 diabetes are associated with glycaemic control: an INNODIA study.

Vatanen T, de Beaufort C, Marcovecchio L, et al. Gut microbiome shifts in people with type 1 diabetes are associated with glycaemic control: an INNODIA study. Diabetologia. 2024. doi:10.1007/s00125-024-06192-7

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.

Duy PQ, Jux B, Zhao S, et al. TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus. Brain : a journal of neurology. 2024. doi:10.1093/brain/awae175

Pharmacogenetic Influences Over Mavacamten Pharmacokinetics: Considerations for the Treatment of Individuals With Hypertrophic Cardiomyopathy.

McGurk KA, Bilgehan N, Ware JS. Pharmacogenetic Influences Over Mavacamten Pharmacokinetics: Considerations for the Treatment of Individuals With Hypertrophic Cardiomyopathy. Circulation. 2024;149(23):1786-1788. doi:10.1161/CIRCULATIONAHA.123.066916

Author Correction: Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.

Gupta R, Kanai M, Durham TJ, et al. Author Correction: Nuclear genetic control of mtDNA copy number and heteroplasmy in humans. Nature. 2024. doi:10.1038/s41586-024-07364-6

Pharmacogenetic Influences Over Mavacamten Pharmacokinetics: Considerations for the Treatment of Individuals With Hypertrophic Cardiomyopathy.

McGurk KA, Bilgehan N, Ware JS. Pharmacogenetic Influences Over Mavacamten Pharmacokinetics: Considerations for the Treatment of Individuals With Hypertrophic Cardiomyopathy. Circulation. 2024;149(23):1786-1788. doi:10.1161/CIRCULATIONAHA.123.066916

Intraspecies warfare restricts strain coexistence in human skin microbiomes.

Mancuso CP, Baker JS, Qu E, Tripp D, Balogun IO, Lieberman TD. Intraspecies warfare restricts strain coexistence in human skin microbiomes. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.05.07.592803