Author

Hirokazu Kimura

Johns Hopkins UniversityORCID 0000-0002-9835-6659Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Cristian TomasettiiD· 1 shared Kamel LahoueliD· 1 shared Nicholas Jason RobertsiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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3 top collaborators · 3 mutual co-author links

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1 shared paperGenetics

Cristian TomasettiORCID

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1 paper

Recent·Most cited

Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity

Hirokazu Kimura, Kamel Lahouel, Cristian Tomasetti, Nicholas Jason Roberts

The paper functionally characterizes all CDKN2A missense variants and evaluates in silico pathogenicity models, finding 17.7% are deleterious and models have moderate accuracy.

eLife · Apr 16, 2025Peer-reviewedGenetics