Author

Roberta Bovenzi

Northwestern UniversityORCID 0009-0004-4824-0051Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ai Huey TaniD· 1 shared Andrew SingletoniD· 1 shared Beomseok JeoniD· 1 shared Chin‐Hsien LiniD· 1 shared Christine KleiniD· 1 shared Cornelis BlauwendraatiD· 1 shared Gregor KuhlenbäumeriD· 1 shared Huw R. MorrisiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 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 paperGenetic & Genomic Medicine

Ai Huey TanORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Genetic & Genomic MedicineMovement DisordersPeer-reviewedOct 11, 2025

Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease

Lara Mariah Lange, Zih‐Hua Fang, Laurel A. Screven…·the Global Parkinson's Genetics Program (GP2)

The paper assesses the frequency of dystonia-linked pathogenic variants in Parkinson's disease patients and finds they are present in 0.57% of cases, with GCH1 being the most common gene affected.

5 citations

humanwhole-exome sequencing

𝕏 PostBluesky