Author

Caterina Cevallos

SIB Swiss Institute of BioinformaticsORCID 0000-0002-6708-091XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:GWAS / association mapping· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1

Frequent Co-Authors

Zoltán KutalikiD· 3 shared Alexandre ReymondiD· 2 shared Chiara AuwerxiD· 2 shared Abbas TafakhoriiD· 1 shared Alba Sanchis‐JuaniD· 1 shared Alexander M ApostoloviD· 1 shared Ambrin FatimaiD· 1 shared Caitlin Lawson· 1 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 32 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Zoltán KutalikORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 14, 2026

Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders

Clara Pailler-Pradeau, Marianne Victoria Lemée, Caterina Cevallos…·Alexandre Reymond

The paper identifies rare variants in CSMD2 associated with neurodevelopmental disorders, showing both recessive and dominant inheritance patterns and functional impairments.

DOI 10.64898/2026.09.24.26361611

humanstatistical model

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Genetic & Genomic MedicinemedRxivPreprintSep 8, 2025

Compounding of rare pathogenic copy-number variants and polygenic background is consistent with assortative mating.

Caterina Cevallos, Chiara Auwerx, Robin J. Hofmeister…·Alexandre Reymond

The paper investigates how polygenic scores and copy-number variants interact, finding that assortative mating explains their positive correlation and contributes to genetic risk compounding.

DOI 10.1101/2025.09.08.25335316

humanbulk RNA-seq

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Genetic & Genomic MedicineNature CommunicationsPeer-reviewedMar 25, 2025

Leveraging large-scale biobank EHRs to enhance pharmacogenetics of cardiometabolic disease medications

Marie C. Sadler, Alexander M Apostolov, Caterina Cevallos…·Zoltán Kutalik

The paper uses EHRs and biobanks to identify pharmacogenetic associations with drug response in cardiometabolic diseases, finding novel genetic predictors for personalized treatment.

30 citationstop 1%

humanelectronic health records

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