Research output per year
Research output per year
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Dive into the research topics where Hilary J Vernon is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Accurate assignment of disease liability to genetic variants using only population data
Collaco, J. M., Raraigh, K. S., Betz, J., Aksit, M. A., Blau, N., Brown, J., Dietz, H. C., MacCarrick, G., Nogee, L. M., Sheridan, M. B., Vernon, H. J., Beaty, T. H., Louis, T. A. & Cutting, G. R., Jan 2022, In: Genetics in Medicine. 24, 1, p. 87-99 13 p.Research output: Contribution to journal › Article › peer-review
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An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio
Vaz, F. M., van Lenthe, H., Vervaart, M. A. T., Stet, F. S., Klinkspoor, J. H., Vernon, H. J., Goorden, S. M. I., Houtkooper, R. H., Kulik, W. & Wanders, R. J. A., Jan 2022, In: Journal of Inherited Metabolic Disease. 45, 1, p. 29-37 9 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Barth syndrome and the many fascinating aspects of cardiolipin
Vaz, F. M., Wanders, R. J. A. & Vernon, H., Jan 2022, In: Journal of Inherited Metabolic Disease. 45, 1, p. 1-2 2 p.Research output: Contribution to journal › Editorial › peer-review
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Clinical presentation and natural history of Barth Syndrome: An overview
Taylor, C., Rao, E. S., Pierre, G., Chronopoulou, E., Hornby, B., Heyman, A. & Vernon, H. J., Jan 2022, In: Journal of Inherited Metabolic Disease. 45, 1, p. 7-16 10 p.Research output: Contribution to journal › Review article › peer-review
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Current and future treatment approaches for Barth syndrome
Thompson, R., Jefferies, J., Wang, S., Pu, W. T., Takemoto, C., Hornby, B., Heyman, A., Chin, M. T. & Vernon, H. J., Jan 2022, In: Journal of Inherited Metabolic Disease. 45, 1, p. 17-28 12 p.Research output: Contribution to journal › Review article › peer-review