ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case
Source
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
Source
Molecular genetics & genomic medicine - ISSN 2324-9269-9:9 (2021) p.
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Source
Nature communications - ISSN 2041-1723-11:1 (2020) p.
GABAergic abnormalities in the fragile X syndrome
Source
European journal of paediatric neurology - ISSN 1090-3798-24 (2020) p. 100-104
Aberrant function of the C-terminal tail of HIST1H1E accelerates cellular senescence and causes premature aging
Source
The American journal of human genetics - ISSN 0002-9297-105:3 (2019) p. 493-508