Coralea Stephanou

ClinGen Hemoglobinopathy VCEP ACMG/AMP specifications for HBB and HBA2 variant interpretation in thalassemia

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.

Analyzing globin gene variation in gnomAD: implications for variant interpretation in hemoglobinopathies

The paper assesses changes in globin gene variant population evidence between gnomAD v2.1.1 and v4.1, showing increased variant discovery and improved ACMG/AMP criterion fulfillment.

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies

This study evaluates 31 in silico predictors for variants in HBA1, HBA2, and HBB, finding CADD, Eigen-PC, and REVEL as top performers for pathogenicity prediction.

ITHANET: Information and database community portal for haemoglobinopathies

ITHANET is a community portal that integrates information and databases on haemoglobinopathies, providing annotated variations, epidemiological data, and diagnostic reports.