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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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Collaborations and top research areas from the last five years
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Projects
- 1 Finished
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Drug repurposing study for tobacco dependence treatment using zebrafish
7/1/14 → 11/30/16
Project: Research project
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A somatic splice-site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report
Wilke, M. V. M. B., Schimmenti, L., Lopour, M. Q. R., Tollefson, M. M. & Klee, E. W., 2023, (Accepted/In press) In: Molecular Genetics and Genomic Medicine.Research output: Contribution to journal › Article › peer-review
Open Access -
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
Morales-Rosado, J. A., Schwab, T. L., Macklin-Mantia, S. K., Foley, A. R., Pinto e Vairo, F., Pehlivan, D., Donkervoort, S., Rosenfeld, J. A., Boyum, G. E., Hu, Y., Cong, A. T. Q., Lotze, T. E., Mohila, C. A., Saade, D., Bharucha-Goebel, D., Chao, K. R., Grunseich, C., Bruels, C. C., Littel, H. R., Estrella, E. A., & 10 others , Jun 1 2023, In: American journal of human genetics. 110, 6, p. 989-997 9 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
Undiagnosed Diseases Network, May 4 2023, In: American journal of human genetics. 110, 5, p. 774-789 16 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes
Oftedal, B. E., Assing, K., Baris, S., Safgren, S. L., Johansen, I. S., Jakobsen, M. A., Babovic-Vuksanovic, D., Agre, K., Klee, E. W., Majcic, E., Ferré, E. M. N., Schmitt, M. M., DiMaggio, T., Rosen, L. B., Rahman, M. O., Chrysis, D., Giannakopoulos, A., Garcia, M. T., González-Granado, L. I., Stanley, K., & 5 others , Jun 16 2023, In: iScience. 26, 6, 106818.Research output: Contribution to journal › Article › peer-review
Open Access -
Erratum: Impact of integrated translational research on clinical exome sequencing (Genetics in Medicine (2021) 23(3) (498–507), (S1098360021049455), (10.1038/s41436-020-01005-9))
Klee, E. W., Cousin, M. A., Pinto e Vairo, F., Morales-Rosado, J. A., Macke, E. L., Jenkinson, W. G., Ferrer, A., Schultz-Rogers, L. E., Olson, R. J., Oliver, G. R., Sigafoos, A. N., Schwab, T. L., Zimmermann, M. T., Urrutia, R. A., Kaiwar, C., Gupta, A., Blackburn, P. R., Boczek, N. J., Prochnow, C. A., Lowy, R. J., & 40 others , Feb 2023, In: Genetics in Medicine. 25, 2, 100359.Research output: Contribution to journal › Comment/debate › peer-review