Collaborator: Tempus Labs

• A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome

• Somatic Tumor Profile Analysis in a Patient with Germline PMS2 Mutation and Synchronous Ovarian and Uterine Carcinomas

• Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

• Clinical validity of expanded carrier screening: Evaluating the gene-disease relationship in more than 200 conditions

• Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein

  Abstract Missense mutations in the gene, MAP3K1, are a common cause of 46,XY gonadal dysgenesis, accounting for 15–20% of cases [Ostrer, 2014, Disorders of sex development (DSDs): an update. J. Clin. Endocrinol. Metab., 99, 1503–1509]. Functional studies demonstrated that all of these mutations cause a protein gain-of-function that alters co-factor binding and increases phosphorylation of the downstream MAP…