Associated Papers
Molecular and structural characterization of a novel β-hemoglobinopathy caused by in Cis β-globin mutations in a Thai individual.
Singha K et al.
Scientific Reports, 2025
Comprehensive analysis of sickle β+-thalassemia genotypes and their associated HbA levels in France.
Baltus C et al.
Blood Cells, Molecules & Diseases, 2025
Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.
Byrou S et al.
International Journal of Molecular Sciences, 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
Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia.
Stephanou C et al.
Biomedicines, 2024
The beta thalassaemia trait in Jamaica.
Serjeant GR et al.
Journal of Community Genetics, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Epidemiological and molecular study of hemoglobinopathies in Mauritanian patients.
Mahmoud T et al.
Molecular Genetics & Genomic Medicine, 2022
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
HbS/β+ thalassemia: Really a mild disease? A National survey from the AIEOP Sickle Cell Disease Study Group with genotype-phenotype correlation.
Notarangelo LD et al.
European Journal of Haematology, 2020
Hb S/β-Thalassemia in the REDS-III Brazil Sickle Cell Disease Cohort: Clinical, Laboratory and Molecular Characteristics.
Belisário AR et al.
Hemoglobin, 2020
Use of an automated pyrosequencing technique for confirmation of sickle cell disease.
de Martino CC et al.
Plos One, 2019
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
Assessing risk for Mendelian disorders in a Bronx population.
diSibio G et al.
Molecular Genetics & Genomic Medicine, 2017
Mutational Profile of Homozygous β-Thalassemia in Rio de Janeiro, Brazil.
Carrocini GCS et al.
Hemoglobin, 2017
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Prenatal and newborn screening for hemoglobinopathies.
Hoppe CC
International Journal of Laboratory Hematology, 2013
β-Thalassemia Mutations in Jamaica: Geographic Variation in Small Communities.
Serjeant GR et al.
Hemoglobin, 0