DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
Article in Human Genetics and Genomics Advances (May 2024)
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ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel–Van der Aa syndrome autopsy case
Article in Acta Neuropathologica Communications (April 2024)
Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome
Article in European Journal of Human Genetics (February 2024)