Cornelis L. Harteveld

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.

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.

ATR16 Syndrome: Mechanisms Linking Monosomy to Phenotype

This study investigates ATR-16 syndrome, finding that deletion size correlates with severity but no critical region defines the phenotype, and genetic background significantly affects outcomes.