This paper describes the co-creation of public health educational materials and dissemination plans to improve genetic literacy and equity in genomics research and practice.

Public Health Genomics · Dec 19, 2024Peer-reviewedGenetic & Genomic Medicine

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

Cristina Fortuño, Kristy Lee, Magali Olivier, Tina F. Pesaran, Phuong L. Mai, Kelvin C. de Andrade, Laura Donatella Attardi, Stephanie B. Crowley, D. Gareth Evans, Bing Feng, Ann Katherine M. Foreman, Megan N. Frone, Robert Huether, Paul Andrew James, Kelly McGoldrick, , the ClinGen TP53 Variant Curation Expert Panel

The paper specifies TP53-specific ACMG/AMP variant classification guidelines, reducing variants of uncertain significance from 28% to 12%.

Human Mutation · Dec 10, 2020Peer-reviewedGenetic & Genomic Medicine

Genomic sequencing for newborn screening: Results of the NC NEXUS project

Tamara S. Roman, Stephanie B. Crowley, Myra I. Roche, Ann Katherine M. Foreman, Julianne M. O’Daniel, Bryce A. Seifert, Kristy Lee, Alicia Brandt, Chelsea E. Gustafson, Daniela M. DeCristo, Natasha T. Strande, Lori A. Ramkissoon, Laura V. Milko, Phillips Owen, Sayanty Roy, , Jonathan S. Berg

The paper evaluates exome sequencing in newborn screening, finding high diagnostic yield for metabolic disorders but limited actionable results for hearing loss and identifying carrier status variants.

The American Journal of Human Genetics · Aug 26, 2020Peer-reviewedGenetic & Genomic Medicine