Author

Christopher Manuel Gomez

Brigham and Women's HospitalORCID 0000-0002-7909-207XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Approach:statistical model· 1

Frequent Co-Authors

Alfredo BruscoiD· 1 shared Barbara A Perez· 1 shared Brent L. FogeliD· 1 shared Claudio M. de GusmãoiD· 1 shared Darice Y. WongiD· 1 shared Dona Aboud SyrianiiD· 1 shared Giacomo L GlotzeriD· 1 shared Hannah K ShorrockiD· 1 shared

Activity by Year

2020-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetics

Alfredo BruscoORCID

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2 papers

Recent·Most cited

CCG*CGG interruptions in high penetrance SCA8 families increase RAN translation and protein toxicity

Barbara A Perez, Hannah K Shorrock, Mónica Báñez-Coronel, Tao Zu, Lisa E. L. Romano, Lauren A. Laboissonniere, Tammy S. Reid, Yoshio Ikeda, Kaalak Reddy, Christopher Manuel Gomez, Thomas D. Bird, Tetsuo Ashizawa, Lawrence J. Schut, Alfredo Brusco, J. Andrew Berglund, , Laura P.W. Ranum

This study shows that CCG*CGG interruptions in SCA8 repeat expansions increase RAN protein levels and toxicity, contributing to higher disease penetrance.

EMBO Molecular Medicine · Oct 11, 2021Peer-reviewedGenetics

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

Dona Aboud Syriani, Darice Y. Wong, Sameer Andani, Claudio M. de Gusmão, Yuanming Mao, May Sanyoura, Giacomo L Glotzer, Paul J. Lockhart, Sharon Hassin‐Baer, Vikram Khurana, Christopher Manuel Gomez, Susan Perlman, Soma Das, 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.

Neurology Genetics · May 20, 2020Peer-reviewedGenetics