Buchan, Rachel J.

Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk

Cardiogenics Consortium, Heinig, M., Petretto, E., Wallace, C., Bottolo, L., Rotival, M., Lu, H., Li, Y., Sarwar, R., Langley, S. R., et al. (2010) · Nature

Diabetes and associated disordersGenetic Associations and Epidemiology

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Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies

Reichart, D., Lindberg, E. L., Maatz, H., Miranda, A. M. A., Viveiros, A., Shvetsov, N., Gärtner, A., Nadelmann, E. R., Lee, M., Kanemaru, K., et al. (2022) · Science

Cardiomyopathy and Myosin StudiesCardiac electrophysiology and arrhythmias

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Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy

Lota, A. S., Hazebroek, M. R., Theotokis, P., Wassall, R., Salmi, S., Halliday, B. P., Tayal, U., Verdonschot, J., Meena, D., Owen, R., et al. (2022) · Circulation

Viral Infections and Immunology ResearchCardiomyopathy and Myosin Studies

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