Author

A. Kuchtova

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Biochemistry· 1

Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Organism:human· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

C. W. Vander Kooi· 1 shared J. L. Wayne· 1 shared J. Serratosa· 1 shared M. A. Garcia-Gimeno· 1 shared M. K. Brewer· 1 shared M. Machio-Castello· 1 shared M. S. Gentry· 1 shared P. Sanz· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperBiochemistry

C. W. Vander Kooi

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1 paper

Recent·Most cited

An empirical pipeline for personalized diagnosis of Lafora disease mutations

M. K. Brewer, M. Machio-Castello, R. Viana, J. L. Wayne, A. Kuchtova, Z. R. Simmons, S. Sternbach, S. Li, M. A. Garcia-Gimeno, J. Serratosa, P. Sanz, C. W. Vander Kooi, M. S. Gentry

This paper develops an empirical pipeline to classify EPM2A mutations in Lafora disease by analyzing their functional impact in vitro, linking specific mutations to clinical outcomes.

bioRxiv · Mar 26, 2021Biochemistry