Projects per year
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Dive into the research topics where Human Genetics is active. These topic labels come from the works of this organization's members. Together they form a unique fingerprint.
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Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Profiles
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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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Systems Biology of Bone Marrow Failure and MDS for Precision Medicine
National Institute of Diabetes and Digestive and Kidney Diseases
9/15/19 → 6/30/22
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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A novel de novo intronic variant in ITPR1 causes Gillespie syndrome
Undiagnosed Diseases Network, Aug 2021, In: American Journal of Medical Genetics, Part A. 185, 8, p. 2315-2324 10 p.Research output: Contribution to journal › Article › peer-review
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Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
Undiagnosed Diseases Network, Feb 2021, In: Genetics in Medicine. 23, 2, p. 259-271 13 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
Undiagnosed Diseases Network, Jun 2021, In: Genetics in Medicine. 23, 6, p. 1075-1085 11 p.Research output: Contribution to journal › Article › peer-review
Open Access