Novel features of Helsmoortel–Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP gene detected by exome sequencing
Chapter 12: The phenotype of elderly Helsmoortel-Van der Aa syndrome mice shows neuromotor decline and cerebellar anomalies
Chapter 11: The Female Side of Autism: Sexual Dichotomies impacting the Helsmoortel-Van der Aa syndrome pathology.