Author

Esther A. R. Nibbeling

Leiden University Medical CenterORCID 0000-0001-8818-3232Unclaimed 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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Research Focus:differential expression· 2 Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Organism:mouse· 1 Approach:statistical model· 1

Frequent Co-Authors

Adam Hunter· 1 shared Ahna M. Rabani· 1 shared Alessandra RenieriiD· 1 shared Alexandra S. NeaversoniD· 1 shared Amelle ShillingtoniD· 1 shared Amy Dobson· 1 shared André ReisiD· 1 shared Andrea AccogliiD· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetics

Adam Hunter

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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

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GeneticsbioRxivPreprintJul 15, 2022

Mouse and cellular models of KPTN-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes

Maria O. Levitin, Lettie E. Rawlins, Gabriela Sánchez-Andrade…·Sebastian S. Gerety

The paper investigates KPTN-related disorder using mouse and human stem cell models, identifying mTOR pathway dysregulation as a key mechanism underlying cognitive and overgrowth phenotypes.

1 citation

mousehuman

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