Author
University of North Carolina at Chapel HillORCID 0000-0002-8338-7989Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
7 papers
Recent·Most cited
Jennifer J. Johnston, Kristy Lee, Deborah Ritter, Steven M. Harrison, Leslie G. Biesecker
The paper establishes frequency criteria for secondary findings genes to improve variant classification consistency by setting disease allele frequency thresholds for 58 monogenic disease entities.
Genetics in Medicine · Mar 14, 2026Peer-reviewedGenetics
Tracy A. Bedrosian, Katherine E. Miller, Olivia E. Grischow, Kathleen M. Schieffer, Stephanie LaHaye, Hyojung Yoon, Anthony R. Miller, Jason B. Navarro, Jesse J. Westfall, Kristen Leraas, Samantha S. Choi, Rachel Williamson, James Fitch, Benjamin Kelly, Peter White, , Daniel C. Koboldt
The paper identifies somatic and germline genetic variations in brain tissue from children with epilepsy-associated developmental lesions, highlighting new candidate genes and structural variations.
Epilepsia · Jun 10, 2022Peer-reviewedGenetic & Genomic Medicine
Christine G. Preston, Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer Goldstein, Xi Luo, Hannah Wand, Bryan Wulf, Gloria Cheung, Mark E. Mandell, Howard Tong, Shaung Cheng, Michael A. Iacocca, Arturo López Pineda, Alice B. Popejoy, , Helio A. Costa
The paper introduces the ClinGen Variant Curation Interface, a platform for applying ACMG/AMP guidelines to classify genetic variants, enabling collaboration and standardization in clinical variant interpretation.
Genome Medicine · Jan 17, 2022Peer-reviewedGenetic & Genomic Medicine
Stephanie LaHaye, James Fitch, Kyle Voytovich, Adam Herman, Benjamin Kelly, Grant Lammi, Jeremy A. Arbesfeld, Saranga Wijeratne, Samuel J. Franklin, Kathleen M. Schieffer, Natalie Bir, Sean D McGrath, Anthony R. Miller, Amy N. Wetzel, Katherine E. Miller, , Peter White
The paper develops an ensemble fusion-calling pipeline to improve the detection of clinically relevant gene fusions in pediatric cancer, identifying 67 fusions with a 29.3% diagnostic yield.
BMC Genomics · Dec 1, 2021Peer-reviewedGenomics
Xi Luo, Jamie L. Maciaszek, Bryony A. Thompson, Huei San Leong, Katherine Dixon, Sónia Sousa, Michael Anderson, Maegan E. Roberts, Kristy Lee, Amanda B. Spurdle, Arjen R. Mensenkamp, Terra Brannan, Carolina Pardo, Liying Zhang, Tina F. Pesaran, , Rachid Karam
The paper updates CDH1 variant curation guidelines to resolve conflicting interpretations and reduce variants of uncertain significance for clinical use.
medRxiv · Nov 1, 2021 · PreprintGenetic & Genomic Medicine
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
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