Author

Olivia A Juarez

Baylor College of Medicine

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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Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

A. GélotiD· 1 shared Alain SchmittiD· 1 shared Alexandra Noel Grace· 1 shared Alfonso RepresaiD· 1 shared Benjamin C Kennedy· 1 shared Bethânia FR Ribeiro· 1 shared Boris KereniD· 1 shared Caroline NavaiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

A. GélotORCID

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1 paper

Recent·Most cited

A recurrent de novo splice site variant involving DNM1 alternative exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

Shridhar Parthasarathy, Sarah McKeown Ruggiero, A. Gélot, Fernanda Caroline Soardi, Bethânia FR Ribeiro, Douglas E. V. Pires, David Benjamin Ascher, Alain Schmitt, Caroline Rambaud, Alfonso Represa, Hongbo Michael Xie, Laina G. Lusk, Olivia Wilmarth, Pamela Pojomovsky McDonnell, Olivia A Juarez, , Vishnu Anand Cuddapah

The paper identifies a recurrent de novo splice site variant in DNM1 exon 10a causing severe DEE through a dominant-negative mechanism, highlighting the importance of considering alternative isoforms in disease causation.

The American Journal of Human Genetics · Nov 21, 2022Peer-reviewedGenetics