Collaborator: Massachusetts General Hospital

• 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

• Piloting the forthcoming ACMG/AMP/CAP/ClinGen standards for sequence variant classification

  April 2, 2026

• Clinically important endpoints in individuals with leukodystrophy: A multisite study

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

• Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments

• Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data

• Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium

• Recurrent mutation N383S and rare variants in PRKCI are causal for orofacial clefting and other phenotypes

  April 2, 2026

• Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

• Genetic counseling in diabetes mellitus: A practice resource of the National Society of Genetic Counselors