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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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Rare Diseases Clinical Research Consortia (RDCRC) for the Rare Diseases Clinical Research Network (RDCRN)
9/17/19 → 7/31/23
Project: Research project
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Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment
Kripps, K. A., Sremba, L., Larson, A. A., Van Hove, J. L. K., Nguyen, H., Wright, E. L., Mirsky, D. M., Watkins, D., Rosenblatt, D. S., Ketteridge, D., Berry, S. A., McCandless, S. E. & Baker, P. R., Mar 2022, In: Journal of Inherited Metabolic Disease. 45, 2, p. 157-168 12 p.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database
Lim, C. C., Vockley, J., Ujah, O., Kirby, R. S., Edick, M. J., Berry, S. A. & Arnold, G. L., Sep 2022, In: Molecular Genetics and Metabolism Reports. 32, 100884.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)
Brower, A., Chan, K., Williams, M., Berry, S., Currier, R., Rinaldo, P., Caggana, M., Gaviglio, A., Wilcox, W., Steiner, R., Holm, I. A., Taylor, J., Orsini, J. J., Brunelli, L., Adelberg, J., Bodamer, O., Viall, S., Scharfe, C., Wasserstein, M., Chen, J. Y., & 7 others , Jul 22 2022, In: Frontiers in Genetics. 13, 867337.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency
for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group, Nov 2022, In: Annals of Clinical and Translational Neurology. 9, 11, p. 1715-1726 12 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Rare presentation of FDX2-related disorder and untargeted global metabolomics findings
Aggarwal, A., Pillai, N. R., Billington, C. J., Schema, L. & Berry, S. A., Apr 2022, In: American Journal of Medical Genetics, Part A. 188, 4, p. 1239-1244 6 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations