Projects per year
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Profiles
Projects
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Systems Biology of Bone Marrow Failure and MDS for Precision Medicine
9/15/19 → 6/30/24
Project: Research project
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The Sylvester Cancer Center Support Grant
Kobetz, E., Carrasquillo, O., Shiekhattar, R., Trent, J., Burnstein, K. L., Chen, X. & Nimer, S. D.
7/10/19 → 6/30/24
Project: Research project
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Research Output
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A founder noncoding GALT variant interfering with splicing causes galactosemia
Latchman, K., Brown, J., Sineni, C. J., Ragin-Dames, L., Guo, S., Huang, J., Thorson, W., Hacker, S., Barbouth, D., Tekin, M. & Bademci, G., Nov 2020, In: Journal of Inherited Metabolic Disease. 43, 6, p. 1199-1204 6 p.Research output: Contribution to journal › Article › peer-review
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Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (Nature Genetics, (2020), 52, 5, (473-481), 10.1038/s41588-020-0615-4)
Inherited Neuropathy Consortium, Jun 1 2020, In: Nature genetics. 52, 6, p. 640 1 p.Research output: Contribution to journal › Comment/debate › peer-review
Open Access -
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Inherited Neuropathy Consortium, May 1 2020, In: Nature genetics. 52, 5, p. 473-481 9 p.Research output: Contribution to journal › Article › peer-review
9 Scopus citations