Collaborator: Thomas Jefferson University

• Identification of de novo variants from parent-proband duos via long-read sequencing

  August 1, 2026

• Hereditary anemias as a monogenic etiology for nonimmune hydrops fetalis

  August 1, 2026

• Characterization of the genetic and phenotypic spectrum of a novel neurodevelopmental syndrome, TCF7L2-related neurodevelopmental disorder (TRND)

  April 2, 2026

• Identification of de novo variants from parent-proband duos via long-read sequencing

  Presenting Author: Leandros Boukas, MD, Children’s National; Boston Children’s Take home point: Being able to tell if a variant is de novo or inherited is critical for variant classification but is not possible unless you have both parents.  We developed a tool using long-read sequencing leveraging phased haplotyping which allows determination of de novo status for…

  April 2, 2026

• Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant

• Germline Variant Spectrum Among African American Men Undergoing Prostate Cancer Germline Testing: Need for Equity in Genetic Testing