Author

Marjolein J.A. Weerts

Erasmus MCORCID 0009-0000-0288-7037Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 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

Tahsin Stefan BarakatiD· 2 shared Abbey M. Putnam· 1 shared Abeltje M. Polstra· 1 shared Adam JacksoniD· 1 shared Adi Reich· 1 shared Alexandra Garza-Flores· 1 shared Amy E. Crunk· 1 shared Andrew E. TimmsiD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Tahsin Stefan BarakatORCID

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

GeneticsGenetics in MedicinePeer-reviewedAug 3, 2021

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega…·Tahsin Stefan Barakat

The paper characterizes the clinical and molecular features of 36 individuals with SETD1B variants, identifying a core phenotype of developmental delay and variable epilepsy, with male predominance and potential sex-linked effects.

36 citations

humanstatistical model

𝕏 PostBluesky