Author

M. Machio-Castello

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

A. Kuchtova· 1 shared 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. S. Gentry· 1 shared P. Sanz· 1 shared

Activity by Year

2021-2021 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperBiochemistry

A. Kuchtova

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1 paper

Recent·Most cited

BiochemistrybioRxivMar 26, 2021

An empirical pipeline for personalized diagnosis of Lafora disease mutations

M. K. Brewer, M. Machio-Castello, R. Viana…·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.

DOI 10.1016/j.isci.2021.103276

humanwhole-exome sequencing

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