Author

Fleur Vansenne

University Medical Center GroningenORCID 0000-0002-0156-3417Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Research Focus:cell type annotation· 1 Approach:experimental assay· 1

Frequent Co-Authors

Bert B A De VriesiD· 2 shared Gaëtan LescaiD· 2 shared Laurence E. WalshiD· 2 shared Peter D. TurnpennyiD· 2 shared Richard PersoniD· 2 shared Rolph PfundtiD· 2 shared Abbey M. Putnam· 1 shared Abeltje M. Polstra· 1 shared

Activity by Year

2021-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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2 shared papersGenetics

Bert B A De VriesORCID

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4 papers

Recent·Most cited

NeuroscienceNature CommunicationsPeer-reviewedMay 26, 2026

Pathogenic variants in autophagy-tethering factor EPG5 drive neurodegeneration through mitochondrial dysfunction and innate immune activation

Kritarth Singh, Hormos Salimi Dafsari, Olivia Gillham…·Michael R. Duchen

This study identifies EPG5 mutations causing neurodegeneration via mitochondrial dysfunction and innate immune activation in patient-derived cells.

4 citationstop 2%

humanbulk RNA-seq

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintApr 26, 2022

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

Hannah C. Happ, Lynette Grant Sadleir, Matthew Zemel…·Gemma L. Carvill

The paper reports a cohort of 17 patients with pathogenic KCNH5 variants causing neurodevelopmental disorders and epilepsy, identifying genotype-phenotype correlations.

DOI 10.1101/2022.04.26.22274147

humanstatistical model

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

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMar 3, 2021

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny F. Lai…·Timothy W. Yu

The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.

84 citationstop 3%

humanbulk RNA-seq

𝕏 PostBluesky