Collaborator: Harvard Medical School

• Actionable germline findings in endometrial cancer from a large multigene panel tested cohort

  Presenting Author: Adela Rodriguez Hernandez, MD at Dana-Farber Cancer Institute

  August 3, 2026

• Germline Pathogenic/Likely Pathogenic (P/LP) Variants in Epithelial Neuroendocrine Neoplasms: The Case for Universal Germline Genetic Testing

  Presenting Author: Udhayvir Singh Grewal, MD at Emory University

  August 3, 2026

• Large class of neurodevelopmental disorders requires genome sequencing for diagnosis

  August 3, 2026

• Frequency and clinical features of germline pathogenic variants in sarcoma: A case-control study

• Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy

• The GUARDIAN expanded newborn screening study: Short-and medium-term follow-up with the first 15,000 participants enrolled

  April 2, 2026

• Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder

• ACMG SF v3.3 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)

• Low allele frequency variants identified on germline multi-gene panel testing for cancer predisposition can suggest the presence of constitutional mosaicism

• Extracting and calibrating evidence of variant pathogenicity from population biobank data