Author

Jordi To‐Figueras

Hospital Clínic de BarcelonaORCID 0000-0002-2644-1213Unclaimed 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

Caroline SchmittiD· 2 shared Frederick P. RothiD· 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

Caroline SchmittORCID

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2 papers

Recent·Most cited

Molecular BiologybioRxivPreprintJul 3, 2026

Environment-dependent landscapes of coding variant impacts on coproporphyrinogen oxidase

Warren van Loggerenberg, Haotian Zhang, Vignesh Senguttuvan…·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.

DOI 10.64898/2026.07.02.735896

humanwhole-exome sequencing

𝕏 PostBluesky

Molecular BiologyThe American Journal of Human GeneticsPeer-reviewedSep 19, 2023

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

Warren van Loggerenberg, Shahin Sowlati‐Hashjin, Jochen Weile…·Frederick P. Roth

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

32 citations

humanexperimental assay

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