Author

Claudio M. de Gusmão

Brigham and Women's HospitalORCID 0000-0001-7171-1406Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Brent L. FogeliD· 1 shared Christopher Manuel GomeziD· 1 shared Darice Y. WongiD· 1 shared Dona Aboud SyrianiiD· 1 shared Giacomo L GlotzeriD· 1 shared May SanyouraiD· 1 shared Paul J. LockhartiD· 1 shared Sameer Andani· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Brent L. FogelORCID

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1 paper

Recent·Most cited

GeneticsNeurology GeneticsPeer-reviewedMay 20, 2020

Prevalence of RFC1-Mediated Spinocerebellar Ataxia in a United States Ataxia Cohort

Dona Aboud Syriani, Darice Y. Wong, Sameer Andani…·Brent L. Fogel

The paper evaluates the prevalence of RFC1 and DAB1 repeat expansions in an undiagnosed ataxia cohort, finding biallelic RFC1 expansions in 2.7% of patients.

54 citationstop 4%

humanexperimental assay

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