Author

Arie van Haeringen

Leiden University Medical CenterORCID 0000-0003-3786-6716Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1

Frequent Co-Authors

A. GélotiD· 1 shared Ahna M. Rabani· 1 shared Alessandra RenieriiD· 1 shared Alfonso RepresaiD· 1 shared Amelle ShillingtoniD· 1 shared Amy Dobson· 1 shared André ReisiD· 1 shared Andrea AccogliiD· 1 shared

Activity by Year

2020-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperNeuroscience

A. GélotORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 30, 2023

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

Elisabeth Bosch, Bernt Popp, Esther Güse…·Georgia Vasileiou

The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.

DOI 10.1101/2023.03.30.23287962

humanstatistical model

𝕏 PostBluesky

NeurosciencebioRxivPreprintFeb 14, 2020

Disruption of the transcription factor NEUROD2 causes an autism syndrome via cell-autonomous defects in cortical projection neurons

Karen Runge, Rémi Mathieu, Stéphane Bugeon…·Antoine de Chevigny

This study identifies NEUROD2 mutations linked to ASD and intellectual disability, showing their role in cortical development and function through mouse models.

5 citations

mousebulk RNA-seq

𝕏 PostBluesky