Minimal repeats are ubiquitous sites of crossover and recombination across the human genome
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BMC genomics - ISSN 1471-2164-26:1 (2025) p. 1-16
Paracentric inversion disrupting the SHANK2 gene
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European journal of medical genetics - ISSN 1769-7212-75 (2025) p. 1-11
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 1018-4813-32 (2024) p. 630-638
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.