Collaborator: Wright State University

• Prenatal diagnosis of a novel biallelic ARFGEF1-related disorder due to uniparental isodisomy: A case report

  Take home points:  ARFGEF1 is associated with an autosomal dominant neurodevelopmental disorder; this case report documents the first homozygous pathogenic ARFGEF1 case with a severe, prenatal presentation. This highlights the potential for prenatal exome to identify ultra rare, severe conditions which may not be ascertained in a postnatal cohort.

  April 2, 2026

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