Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients
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Scientific reports - ISSN 2045-2322-14:1 (2024) p. 1-23
ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case
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Acta neuropathologica communications - ISSN 2051-5960-12:1 (2024) p. 1-32
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly : high incidence of epilepsy
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Molecular genetics & genomic medicine - ISSN 2324-9269-9:9 (2021) p.
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
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Nature communications - ISSN 2041-1723-11:1 (2020) p.
GABAergic abnormalities in the fragile X syndrome
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European journal of paediatric neurology - ISSN 1090-3798-24 (2020) p. 100-104