Author

Adriana P. Rebelo

University of MiamiORCID 0000-0001-5669-7415Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Approach:experimental assay· 1 Assay:long-read sequencing· 1 Organism:rat· 1

Frequent Co-Authors

A. Pionzio· 1 shared Aaron R. QuinlaniD· 1 shared Abdul Aziz ElkadriiD· 1 shared Adeline L. VanderveriD· 1 shared Alan H. BeggsiD· 1 shared Alba Sanchis‐JuaniD· 1 shared Albert R. La SpadaiD· 1 shared Alden HuangiD· 1 shared

Activity by Year

2024-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetics

A. Pionzio

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Genetic & Genomic MedicineGenome MedicinePeer-reviewedOct 21, 2025

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Isabelle B. Cooperstein, Shruti Marwaha, Alistair N. Ward…·Emily Glanton

This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.

17 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsNature GeneticsPeer-reviewedJun 27, 2024

A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus

David Pellerin, Giulia F. Del Gobbo, Madeline Couse…·Alba Sanchis‐Juan

The paper identifies a common flanking variant linked to increased meiotic stability at the FGF14-SCA27B repeat locus.

43 citationstop 2%

humanlong-read sequencing

𝕏 PostBluesky

NeuroscienceBrainPeer-reviewedMar 26, 2024

Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights

Adriana P. Rebelo, Clemer Abad, Maike Franziska Dohrn…·Stephan L. Zuchner

This study generates a Sord knockout rat model to study SORD deficiency, revealing motor-predominant neuropathy with elevated sorbitol and neurofilament light chain levels.

11 citations

ratexperimental assay

𝕏 PostBluesky