Projects per year
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Dive into the research topics where Eric W Klee is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Projects
- 1 Finished
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Drug repurposing study for tobacco dependence treatment using zebrafish
National Institute on Drug Abuse
7/1/14 → 11/30/16
Project: Research project
Research output
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Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5
Rajan, D. S., Kour, S., Fortuna, T. R., Cousin, M. A., Barnett, S. S., Niu, Z., Babovic-Vuksanovic, D., Klee, E. W., Kirmse, B., Innes, M., Rydning, S. L., Selmer, K. K., Vigeland, M. D., Erichsen, A. K., Nemeth, A. H., Millan, F., DeVile, C., Fawcett, K., Legendre, A., Sims, D. & 10 others, , Feb 28 2022, In: Frontiers in Cell and Developmental Biology. 10, 783762.Research output: Contribution to journal › Article › peer-review
Open Access -
De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype
Safgren, S. L., Olson, R. J., Pinto e Vairo, F., Bothun, E. D., Hanna, C., Klee, E. W. & Schimmenti, L. A., Mar 2022, In: American Journal of Medical Genetics, Part A. 188, 3, p. 919-925 7 p.Research output: Contribution to journal › Article › peer-review
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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
TUDP Study Group & Broad Center for Mendelian Genomics, Apr 7 2022, In: American journal of human genetics. 109, 4, p. 601-617 17 p.Research output: Contribution to journal › Article › peer-review
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Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar
Donko, A., Kuhns, D. B., Cousin, M. A., Smith, M. J., Sacco, K. A., Klee, E. W., Joshi, A. Y., Gavrilova, R. H., Holland, S. M., Leto, T. L. & Abraham, R. S., 2022, (Accepted/In press) In: Journal of Clinical Immunology.Research output: Contribution to journal › Article › peer-review
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A form of muscular dystrophy associated with pathogenic variants in JAG2
Coppens, S., Barnard, A. M., Puusepp, S., Pajusalu, S., Õunap, K., Vargas-Franco, D., Bruels, C. C., Donkervoort, S., Pais, L., Chao, K. R., Goodrich, J. K., England, E. M., Weisburd, B., Ganesh, V. S., Gudmundsson, S., O'Donnell-Luria, A., Nigul, M., Ilves, P., Mohassel, P., Siddique, T. & 38 others, , May 6 2021, In: American journal of human genetics. 108, 5, p. 840-856 17 p.Research output: Contribution to journal › Article › peer-review
Open Access