Collaborator: George Washington University

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

  August 1, 2026

• A stepwise approach to macrocephaly: Clinical clues to the rare diagnosis of PTEN hamartoma tumor syndrome

  August 3, 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

• Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

• Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian cancer

• The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change