Understanding the functional consequences of mutations in the Helsmoortel-Van der Aa and fragile X syndromes
Source
Antwerp, University of Antwerp, Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, Department of Biomedical Sciences,416 p.
The ADNP-mediated transcriptome response to ketamine impairs the cytoskeletal protein axis
Source
Journal of molecular neuroscience - ISSN 0895-8696-75:4 (2025) p. 1-17
A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome
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European journal of human genetics - ISSN 1018-4813- (2025) p.
Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes
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Genome medicine - ISSN 1756-994X-17:1 (2025) p. 1-24
An NGS-based approach for precise and footprint-free CRISPR-based gene editing in human stem cells
Source
Methods: a companion to methods in enzymology - ISSN 1046-2023-241 (2025) p. 33-42