David A Koolen

15PUBLICATIONS
277CO-AUTHORS
Medical molecular engineering of nucleic acids and proteinsCellular nervous systemNeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Infant and child health
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Publications (15)

|Jul 01, 2026
CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

|Feb 12, 2026
Integrative transcriptomics and electrophysiological profiling of hiPSC-derived neurons identifies novel druggable pathways in Koolen-de Vries Syndrome.

A H A Verboven, S Puvogel, B L Latour

|Jun 25, 2025
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Camille Engel, Michaela Rendek, Jessica Assoumani

|Mar 13, 2025
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Stefan Groeneweg, Ferdy S van Geest, Mariano Martín

|May 14, 2024
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals.

Alexander J M Dingemans, Sandra Jansen, Jeroen van Reeuwijk

|Jan 28, 2024
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.

Zain Awamleh, Sanaa Choufani, Wendy Wu

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Frequent Collaborators

8 joint publications

Bert B A de Vries

3 joint publications

Nael Nadif Kasri

3 joint publications

R Frank Kooy

2 joint publications

Gijs W E Santen