Collaborator: Human Genetics Department, Radboud University Medical Center

• A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

• De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

• TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

• Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

• Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability

• De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

• De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

  Abstract POU3F3, also referred to as Brain-1, is a well-known transcription factor involved in the development of the central nervous system, but it has not previously been associated with a neurodevelopmental disorder. Here, we report the identification of 19 individuals with heterozygous POU3F3 disruptions, most of which are de novo variants. All individuals had developmental delays and/or intellectual disability…