Author

Caroline Schmitt

InsermORCID 0000-0001-5145-7260Unclaimed 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· 2 Organism:human· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Frederick P. RothiD· 2 shared Jordi To‐FiguerasiD· 2 shared Laurent GouyaiD· 2 shared Marinella GebbiaiD· 2 shared Robert J. DesnickiD· 2 shared Warren van LoggerenbergiD· 2 shared Aasne Karine AarsandiD· 1 shared Aditya Chawla· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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2 shared papersMolecular Biology

Frederick P. RothORCID

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2 papers

Recent·Most cited

Environment-dependent landscapes of coding variant impacts on coproporphyrinogen oxidase

Warren van Loggerenberg, Haotian Zhang, Vignesh Senguttuvan, Michael James Chambers, Mailoan Panchalingam, Alireza Rasoulzadeh, Anna Axakova, Marinella Gebbia, Robert J. Desnick, Bruce Wang, Caroline Schmitt, Laurent Gouya, Jordi To‐Figueras, Alexander Wahl, İvet Bahar, , Frederick P. Roth

The paper systematically assesses the functional impact of CPOX variants under different environmental conditions, revealing mercury-dependent variant effects and improving variant classification.

bioRxiv · Jul 3, 2026 · PreprintMolecular Biology

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

Warren van Loggerenberg, Shahin Sowlati‐Hashjin, Jochen Weile, Rayna Hamilton, Aditya Chawla, Dayag Sheykhkarimli, Marinella Gebbia, Nishka Kishore, Laure Frésard, Sami Mustajoki, Elena Pischik, Elena Di Pierro, Michela Barbaro, Ylva Flodérus, Caroline Schmitt, , Frederick P. Roth

This study systematically tests HMBS missense variants to determine their functional impact and distinguish pathogenic from benign variants.

The American Journal of Human Genetics · Sep 19, 2023Peer-reviewedMolecular Biology