Publications

Efficient in vivo genome editing prevents hypertrophic cardiomyopathy in mice.

Reichart D, Newby GA, Wakimoto H, et al. Efficient in vivo genome editing prevents hypertrophic cardiomyopathy in mice. Nature medicine. 2023;29(2):412-421. doi:10.1038/s41591-022-02190-7

TACCO unifies annotation transfer and decomposition of cell identities for single-cell and spatial omics.

Mages S, Moriel N, Avraham-Davidi I, et al. TACCO unifies annotation transfer and decomposition of cell identities for single-cell and spatial omics. Nature biotechnology. 2023. doi:10.1038/s41587-023-01657-3

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.

Zanovello M, Ibáñez K, Brown AL, et al. Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population. Brain : a journal of neurology. 2023. doi:10.1093/brain/awad050

A Genomic Risk Score Identifies Individuals at High Risk for Intracerebral Hemorrhage.

Myserlis EP, Georgakis MK, Demel SL, et al. A Genomic Risk Score Identifies Individuals at High Risk for Intracerebral Hemorrhage. Stroke. 2023;54(4):973-982. doi:10.1161/STROKEAHA.122.041701

The fecal microbiotas of women of Pacific and New Zealand European ethnicities are characterized by distinctive enterotypes that reflect dietary intakes and fecal water content.

Renall N, Lawley B, Vatanen T, et al. The fecal microbiotas of women of Pacific and New Zealand European ethnicities are characterized by distinctive enterotypes that reflect dietary intakes and fecal water content. Gut microbes. 2023;15(1):2178801. doi:10.1080/19490976.2023.2178801

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.

Nascimento A, Bruels CC, Donkervoort S, et al. Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. Acta neuropathologica. 2023;145(4):479-496. doi:10.1007/s00401-023-02551-7

Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites.

de Prisco N, Ford C, Elrod ND, et al. Alternative polyadenylation alters protein dosage by switching between intronic and 3’UTR sites. Science advances. 2023;9(7):eade4814. doi:10.1126/sciadv.ade4814

In vivo HSC prime editing rescues sickle cell disease in a mouse model.

Li C, Georgakopoulou A, Newby GA, et al. In vivo HSC prime editing rescues sickle cell disease in a mouse model. Blood. 2023;141(17):2085-2099. doi:10.1182/blood.2022018252

Multiancestry Genome-Wide Association Study of Aortic Stenosis Identifies Multiple Novel Loci in the Million Veteran Program.

Small AM, Peloso GM, Linefsky J, et al. Multiancestry Genome-Wide Association Study of Aortic Stenosis Identifies Multiple Novel Loci in the Million Veteran Program. Circulation. 2023;147(12):942-955. doi:10.1161/CIRCULATIONAHA.122.061451

The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus.

Robert SM, Reeves BC, Kiziltug E, et al. The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus. Cell. 2023;186(4):764-785.e21. doi:10.1016/j.cell.2023.01.017

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Publications

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