Publications by authors named "Angela Alberico"
Unlabelled: Thalassemias and hemoglobinopathies are among the most common genetic diseases worldwide and have a significant impact on public health. The decreasing cost of next-generation sequencing (NGS) has quickly enabled the development of new assays that allow for the simultaneous analysis of small nucleotide variants (SNVs) and copy number variants (CNVs) as deletions/duplications of α- and β-globin genes.
Background/objectives: This study highlighted the efficacy and rapid identification of all types of mutations in the α- and β-globin genes, including silent variants, using the Devyser Thalassemia NGS kit.
Article Synopsis
- * Among those with CHD, the most common issues included pulmonary valve stenosis/dysplasia, mitral valve anomalies, and septal defects, with a notable correlation to specific genetic mutations, particularly non-truncating intragenic mutations.
- * The findings suggest a significant association between these mutations and the presence of CHD, especially pulmonary valve stenosis, indicating that many patients with these heart defects also show features similar to Noonan syndrome.