Author
University of North Carolina at Chapel HillORCID 0000-0002-7437-8060Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Coralea Stephanou, Irene Fylaktou, Hashim Halim‐Fikri…·ClinGen Hemoglobinopathy Variant Curation Expert Panel
The paper develops and validates disease-specific ACMG/AMP variant interpretation specifications for HBB and HBA2 in thalassemia, providing a standardized framework for globin gene variant classification.
Vanessa Cristina Jacovas, Michelle Zelnick, Shannon M. McNulty…·Xinrui Shi
The paper develops SCID-specific variant classification guidelines by adapting ACMG/AMP criteria for seven SCID-related genes using expert review and a pilot variant set.
Allison Ann Dilliott, Ahmad Al Nasser, Marwa Elnagheeb…·On behalf of the Amyotrophic lateral sclerosis spectrum disorders Gene Curation Expert Panel
The paper evaluates the variability in ALS clinical genetic testing panels globally, finding inconsistent gene inclusion and potential diagnostic challenges.