Collaborator: The Ohio State University Wexner College of Medicine

• 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

• A case of de novo Lynch syndrome with germline mosaicism

  April 2, 2026

• ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

• Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group

• Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant