Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome
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European journal of human genetics - ISSN 1018-4813- (2024) p.
Unravelling the link between neurodevelopmental disorders and short tandem CGG-repeat expansions
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Emerging topics in life sciences - ISSN 2397-8554-7:3 (2023) p. 265-275
CGG short tandem repeats in unexplained intellectual disability and autism
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Antwerp, University of Antwerp, Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, Department of Medical Genetics, 2023,268 p.
Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism
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Genome research - ISSN 1088-9051-32:11-12 (2022) p. 1967-1980
Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease
Source
Scientific reports - ISSN 2045-2322-11:1 (2021) p.