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Dive into the research topics where William B Rizzo is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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METABOLIC INVESTIGATIONS OF L 2 HYDROXYGLUTARIC ACIDURIA
Rizzo, W. B. (PI) & Rizzo, W. B. (PI)
Project: Research project
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Pangenome graphs improve the analysis of structural variants in rare genetic diseases
Groza, C., Schwendinger-Schreck, C., Cheung, W. A., Farrow, E. G., Thiffault, I., Lake, J., Rizzo, W. B., Evrony, G., Curran, T., Bourque, G. & Pastinen, T., Dec 2024, In: Nature communications. 15, 1, 657.Research output: Contribution to journal › Article › peer-review
Open Access -
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort
Cheung, W. A., Johnson, A. F., Rowell, W. J., Farrow, E., Hall, R., Cohen, A. S. A., Means, J. C., Zion, T. N., Portik, D. M., Saunders, C. T., Koseva, B., Bi, C., Truong, T. K., Schwendinger-Schreck, C., Yoo, B., Johnston, J. J., Gibson, M., Evrony, G., Rizzo, W. B. & Thiffault, I. & 5 others, , Dec 2023, In: Nature communications. 14, 1, 3090.Research output: Contribution to journal › Article › peer-review
Open Access7 Scopus citations -
Untargeted Metabolomic Analysis of Sjögren–Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways
Dai, H. D., Qiu, F., Jackson, K., Fruttiger, M. & Rizzo, W. B., Jun 2023, In: Metabolites. 13, 6, 682.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges
Baker, C. V., Keller, A. C., Lutz, R., Eveans, K., Baumert, K., Diperna, J. C. & Rizzo, W. B., Jun 2022, In: International Journal of Neonatal Screening. 8, 2, 29.Research output: Contribution to journal › Article › peer-review
Open Access7 Scopus citations -
Sjögren-Larsson syndrome: A biochemical rationale for using aldehyde-reactive therapeutic agents
Rizzo, W. B., S'aulis, D., Dorwart, E. & Bailey, Z., Mar 2022, In: Molecular Genetics and Metabolism Reports. 30, 100839.Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations