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Publications

Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.

Einson J, Glinos D, Boerwinkle E, et al. Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants. Genetics. 2023. doi:10.1093/genetics/iyad115

Social Determinants of Health and Cerebral Small Vessel Disease: Is Epigenetics a Key Mediator?

Parodi L, Mayerhofer E, Narasimhalu K, et al. Social Determinants of Health and Cerebral Small Vessel Disease: Is Epigenetics a Key Mediator? Journal of the American Heart Association. 2023:e029862. doi:10.1161/JAHA.123.029862

Metabolic Signatures of Cardiac Dysfunction, Multimorbidity, and Post-Transcatheter Aortic Valve Implantation Death.

Perry AS, Zhao S, Murthy V, et al. Metabolic Signatures of Cardiac Dysfunction, Multimorbidity, and Post-Transcatheter Aortic Valve Implantation Death. Journal of the American Heart Association. 2023:e029542. doi:10.1161/JAHA.123.029542

Birth Weight Is Associated With Clonal Hematopoiesis of Indeterminate Potential and Cardiovascular Outcomes in Adulthood.

Schuermans A, Nakao T, Ruan Y, et al. Birth Weight Is Associated With Clonal Hematopoiesis of Indeterminate Potential and Cardiovascular Outcomes in Adulthood. Journal of the American Heart Association. 2023:e030220. doi:10.1161/JAHA.123.030220

Nova proteins direct synaptic integration of somatostatin interneurons through activity-dependent alternative splicing.

Ibrahim LA, Wamsley B, Alghamdi N, et al. Nova proteins direct synaptic integration of somatostatin interneurons through activity-dependent alternative splicing. eLife. 2023;12. doi:10.7554/eLife.86842

Is there an association between daytime napping, cognitive function, and brain volume? A Mendelian randomization study in the UK Biobank.

Paz V, Dashti HS, Garfield V. Is there an association between daytime napping, cognitive function, and brain volume? A Mendelian randomization study in the UK Biobank. Sleep health. 2023. doi:10.1016/j.sleh.2023.05.002

B-cell-specific checkpoint molecules that regulate anti-tumour immunity.

Bod L, Kye YC, Shi J, et al. B-cell-specific checkpoint molecules that regulate anti-tumour immunity. Nature. 2023. doi:10.1038/s41586-023-06231-0

Optimizing the Cell Painting assay for image-based profiling.

Cimini BA, Chandrasekaran SN, Kost-Alimova M, et al. Optimizing the Cell Painting assay for image-based profiling. Nature protocols. 2023. doi:10.1038/s41596-023-00840-9

Comparative landscape of genetic dependencies in human and chimpanzee stem cells.

She R, Fair T, Schaefer NK, et al. Comparative landscape of genetic dependencies in human and chimpanzee stem cells. Cell. 2023. doi:10.1016/j.cell.2023.05.043

Technological and computational approaches to detect somatic mosaicism in epilepsy.

Boßelmann CM, Leu C, Lal D. Technological and computational approaches to detect somatic mosaicism in epilepsy. Neurobiology of disease. 2023:106208. doi:10.1016/j.nbd.2023.106208