Author

Arnaud Vincent Vanlander

Ghent UniversityORCID 0000-0002-9520-5564Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Assay:bulk RNA-seq· 1 Approach:experimental assay· 1 Assay:proteomics· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Joél SmetiD· 2 shared Johannes Adalbert MayriD· 2 shared Saskia Brigitte WortmanniD· 2 shared Agnès RötigiD· 1 shared Agnieszka NadeliD· 1 shared Akira OhtakeiD· 1 shared Amy C. GoldsteiniD· 1 shared Aneal KhaniD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Joél SmetORCID

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2 papers

Recent·Most cited

The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease

Johan L.K. Van Hove, Marisa W. Friederich, Roxanne A. Van Hove, Jessica C. Lee, Kaz M. Knight, Tonia E. Donovan, Lori Silveira, Rebecca D. Ganetzky, Michio Hirano, José E. Abdenur, Merlin G. Butler, David M Cassiman, Bruce H. Cohen, Sarah H. Elsea, Gregory M. Enns, , Jennifer H. Yang

Four mitochondrial functional tests in fibroblasts show good sensitivity and excellent specificity for diagnosing primary mitochondrial disease.

medRxiv · Jun 15, 2026 · PreprintGenetic & Genomic Medicine

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J. Hayflick, , Holger Prokisch

The paper implements RNA-seq in diagnostics for Mendelian diseases, achieving a 16% diagnosis rate in WES-inconclusive cases by detecting aberrant expression, splicing, and mono-allelic expression.

Genome Medicine · Apr 4, 2022Peer-reviewedGenetic & Genomic Medicine