Author

Matteo Vatta

Invitae (United States)ORCID 0000-0003-0962-8163Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:electronic health records· 1 Approach:experimental assay· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Brett M. KronckeiD· 2 shared Chai‐Ann NgiD· 2 shared Jamie I. VandenbergiD· 2 shared Connie JiangiD· 1 shared Connie R. BezzinaiD· 1 shared Cordula Maria WolfiD· 1 shared Dominik Sebastian WestphaliD· 1 shared Ebony RichardsoniD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Brett M. KronckeORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineCirculation Genomic and Precision MedicinePeer-reviewedJul 18, 2025

Calibrated Functional Data Decreases Clinical Uncertainty for KCNH2-related Long QT Syndrome

Chai‐Ann Ng, Matthew J. O’Neill, Samskruthi Reddy Padigepati…·Brett M. Kroncke

The paper presents a method to reduce clinical uncertainty in KCNH2-related long QT syndrome by using calibrated functional data to classify variants of uncertain significance.

1 citation

human

𝕏 PostBluesky

Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewedJan 19, 2024

Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch clamp assay

Kate L. Thomson, Connie Jiang, Ebony Richardson…·Chai‐Ann Ng

The paper establishes a functional patch clamp assay to classify KCNH2 variants in LQTS, using Z-scores to inform ACMG criteria and correlate with clinical scores.

11 citations

humanelectronic health records

𝕏 PostBluesky