Associated Papers
Utility of Molecular Sequencing and Hematologic Parameters for Diagnosis of α-Thalassemia: A Perspective of the National Reference Laboratory.
Shean R et al.
Hemoglobin, 2025
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
Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience.
Ozalp O et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 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-Full_dataset
mRNA Analysis of Frameshift Mutations with Stop Codon in the Last Exon: The Case of Hemoglobins Campania [α1 cod95 (-C)] and Sciacca [α1 cod109 (-C)].
Cardiero G et al.
Biomedicines, 2021
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
Scheps KG et al.
Human Mutation, 2020
Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study.
Keikhaei B et al.
Biochemical Genetics, 2018
Molecular diagnosis of α-thalassemia in a multiethnic population.
Gilad O et al.
European Journal of Haematology, 2017
The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.
Kountouris P et al.
Scientific Reports, 2016
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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