Author

Ellen van Binsbergen

University Medical Center UtrechtORCID 0009-0008-7061-9075Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 4 Organism:human· 4 Approach:statistical model· 4 Assay:bulk RNA-seq· 2 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Organism:mouse· 2 Research Focus:drug response / drug discovery· 1

Frequent Co-Authors

Boris KereniD· 2 shared Cyril MignotiD· 2 shared Koen L.I. van GasseniD· 2 shared Ada HamoshiD· 1 shared Ajaz Ahmad BhatiD· 1 shared Akihiko SaitoiD· 1 shared Alan H. BeggsiD· 1 shared Alice PoissoniD· 1 shared

Activity by Year

2019-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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Focal author (center)Selected co-authorORCID co-authorUnlinked name

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2 shared papersGenetic & Genomic Medicine

Boris KerenORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 17, 2024

The congenital multiple organ malformation syndrome, Ritscher-Schinzel syndrome is an endosomal recyclinopathy

Kohji Kato, Yosuke Nishio, Kirsty J. McMillan…·Peter J. Cullen

This study identifies RSS as a recyclinopathy caused by dysfunction in the Commander endosomal recycling pathway, linking it to multiple tissue malformations.

2 citations

humanmouse

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintApr 24, 2024

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

Maolei Gong, Jiayi Li, Yijun Liu…·Xiaoli Chen

This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.

DOI 10.1101/2024.04.24.24304501

humanmouse

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

GenomicsGenome MedicinePeer-reviewedDec 1, 2019

Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

Sjors Middelkamp, Judith M. Vlaar, Jacques C. Giltay…·Edwin P. J. G. Cuppen

This study prioritizes driver genes in patients with de novo genomic structural variants using integrative analysis of WGS data, phenotype information, and chromatin organization datasets.

26 citations

humanwhole-genome sequencing

𝕏 PostBluesky