Author

Victoria Chisari

Children's Hospital of Philadelphia

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetics· 1

Signature Assays, Organisms & Methods

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Approach:Bayesian inference· 1 Assay:electronic health records· 1 Organism:human· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alfred L. GeorgeiD· 1 shared Andreas BrunklausiD· 1 shared Carlos G. VanoyeiD· 1 shared Christian M. BoßelmanniD· 1 shared Christopher H. ThompsoniD· 1 shared David Lewis‐SmithiD· 1 shared Dennis LaliD· 1 shared Eduardo Pérez‐PalmaiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Alfred L. GeorgeORCID

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1 paper

Recent·Most cited

Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variants

Shridhar Parthasarathy, Stacey R. Cohen, Eryn Fitch, Priya Vaidiswaran, Sarah McKeown Ruggiero, Laina G. Lusk, Victoria Chisari, David Lewis‐Smith, Stephan Lauxmann, Christian M. Boßelmann, Christopher H. Thompson, Eric R. Wengert, Ulrike B. S. Hedrich, Shiva Ganesan, Ganna Balagura, , Ingo Helbig

The paper develops a Bayesian framework to integrate functional evidence into clinical variant interpretation for epilepsy-related ion channel genes, identifying key parameters that influence pathogenicity classification.

bioRxiv · May 9, 2024 · PreprintGenetics