Collaborator: University of North Carolina at Chapel Hill

• ACMG SF v3.1 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)

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

• Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

• Response to McGurk et al

• Development, Implementation, and Assessment of a Genetics Curriculum Across Institutions

• Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

• ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel

  Award: Poster of Distinction

  April 2, 2026

• A collaborative view of genomic variant interpretation: Clinical genetic counselors, laboratories, and patients

  April 2, 2026

• Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

  Abstract The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for classifying variants based on several benign and pathogenic evidence criteria, including a pathogenic criterion (PVS1) for predicted loss of function variants. However, the guideline did not elaborate on specific considerations for the different types of loss of function variants, nor did it provide…

• A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

  Abstract Purpose While the diagnostic success of genomic sequencing expands, the complexity of this testing should not be overlooked. Numerous laboratory processes are required to support the identification, interpretation, and reporting of clinically significant variants. This study aimed to examine the workflow and reporting procedures among US laboratories to highlight shared practices and identify areas…