Associated Papers
Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.
Selvatici R et al.
Genes, 2024
39858575 (PubMed )
Supplement: genes-16-00028-s001.zip › genes-3372072-supplementary.pdf
New Born Screening of Hemoglobinopathies in a Center Tunisian Population.
Chaouch L et al.
Journal of Pediatric Hematology/oncology, 2024
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-HBB
Hb Narges Lab, a Novel Hemoglobin Variant of the β-Globin Gene.
Hamid M et al.
Archives of Iranian Medicine, 2022
Molecular classification of blood and bleeding disorder genes.
Baz B et al.
Npj Genomic Medicine, 2021
34272389 (PubMed )
Supplement: 41525_2021_228_MOESM1_ESM.pdf
Presentation of two new mutations in the 3'untranslated region of the β-globin gene and evaluating the molecular spectrum of thalassemia mutations in the Mediterranean region of Turkey.
Arpaci A et al.
Annals of Hematology, 2021
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
Scheps KG et al.
Human Mutation, 2020
Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
Henderson SJ et al.
Hemoglobin, 2016
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