Author

Leontine van Unen

Erasmus MCORCID 0000-0003-1174-9140Unclaimed 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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Assay:bulk RNA-seq· 2 Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Assay:long-read sequencing· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Mark D. NellistiD· 2 shared Rachel SchotiD· 2 shared Tjakko J. van HamiD· 2 shared Anneke J.A. KievitiD· 1 shared Banin Mohseni· 1 shared Dmitrijs RotsiD· 1 shared Esmee KasteleijniD· 1 shared Farah Sadeghi-Niaraki· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Mark D. NellistORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 24, 2025

Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome

Federico Ferraro, Nikolas Kühn, Dmitrijs Rots…·Tjakko J. van Ham

1 citation

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintJun 5, 2022

RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variants

Jordy Dekker, Rachel Schot, Michiel Bongaerts…·Tjakko J. van Ham

This study uses RNA-seq to improve diagnosis of neurodevelopmental disorders by identifying non-coding variants and reinterpreting coding variants, increasing diagnostic yield by 12%.

3 citations

humanbulk RNA-seq

𝕏 PostBluesky