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Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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The Fingerprint is created by mining the titles and abstracts of the person's research outputs and projects/funding awards to create an index of weighted terms from discipline-specific thesauri.
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Transcriptomic Approaches to Diagnosis and Management of Inborn Errors of Immunity
Thielen, B. K., Albert, F. W. & Billington, C.
7/1/22 → 6/30/23
Project: Research project
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Global Randomized Prospective Study of Gastric Bypass ve
Leslie, D. B., Bantle, J. P., Billington, C. & Ikramuddin, S.
9/1/07 → 3/1/18
Project: Research project
Research output
- 18 Article
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Copper-Binding Domain Variation in a Novel Murine Lysyl Oxidase Model Produces Structurally Inferior Aortic Elastic Fibers Whose Failure Is Modified by Age, Sex, and Blood Pressure
Tsang, K. M., Knutsen, R. H., Billington, C. J., Lindberg, E., Steenbock, H., Fu, Y. P., Wardlaw-Pickett, A., Liu, D., Malide, D., Yu, Z. X., Bleck, C. K. E., Brinckmann, J. & Kozel, B. A., Jun 1 2022, In: International journal of molecular sciences. 23, 12, 6749.Research output: Contribution to journal › Article › peer-review
Open Access -
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry
Billington, C. J., Chapman, K. A., Leon, E., Meltzer, B. W., Berger, S. I., Olson, M., Figler, R. A., Hoang, S. A., Wanxing, C., Wamhoff, B. R., Collado, M. S. & Cusmano-Ozog, K., 2022, (Accepted/In press) In: American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article › peer-review
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Whole exome sequencing in patients with Williams–Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk
Parrish, P. C. R., Liu, D., Knutsen, R. H., Billington, C. J., Mecham, R. P., Fu, Y. P. & Kozel, B. A., 2021, In: Human molecular genetics. 29, 12, p. 2035-2050 16 p.Research output: Contribution to journal › Article › peer-review
Open Access7 Scopus citations -
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency
Davids, M., Menezes, M., Guo, Y., McLean, S. D., Hakonarson, H., Collins, F., Worgan, L., Billington, C. J., Maric, I., Littlejohn, R. O., Onyekweli, T., Members of the UDN, O. T. UDN., Adams, D. R., Tifft, C. J., Gahl, W. A., Wolfe, L. A., Christodoulou, J. & Malicdan, M. C. V., May 2020, In: Molecular Genetics and Metabolism. 130, 1, p. 49-57 9 p.Research output: Contribution to journal › Article › peer-review
9 Scopus citations -
Rapid deployment of a telemedicine care model for genetics and metabolism during COVID-19
Rare Disease Institute, Oct 14 2020, In: American Journal of Medical Genetics, Part A. 185, 1, p. 68-72 5 p.Research output: Contribution to journal › Article › peer-review
21 Scopus citations