Associated Papers
Active spread of β-thalassemia beyond the thalassemia belt: A study on a Russian population.
Shchemeleva E et al.
Clinical Genetics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/β0-Thalassemia.
Waye JS et al.
Hemoglobin, 2024
Clinically actionable secondary findings in 130 triads from sub-Saharan African families with non-syndromic orofacial clefts.
Oladayo A et al.
Molecular Genetics & Genomic Medicine, 2023
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
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease.
Rampersaud E et al.
Blood Advances, 2021
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
Hb S/β-Thalassemia in the REDS-III Brazil Sickle Cell Disease Cohort: Clinical, Laboratory and Molecular Characteristics.
Belisário AR et al.
Hemoglobin, 2020
A Case Report of Compound Heterozygosity for β0/β+-Thalassemia Resulting from under Diagnosed β-Thalassemia Found in a Hb A'2 Sample.
Intasai N et al.
Hemoglobin, 2019
Red blood cells free α-haemoglobin pool: a biomarker to monitor the β-thalassemia intermedia variability. The ALPHAPOOL study.
Vasseur C et al.
British Journal of Haematology, 2017
Assessing risk for Mendelian disorders in a Bronx population.
diSibio G et al.
Molecular Genetics & Genomic Medicine, 2017
Broader spectrum of β-thalassemia mutations in Oman: regional distribution and comparison with neighboring countries.
Hassan SM et al.
Hemoglobin, 2015
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Identification of a new HBA1 gene mutation (HBA1:c.301-2A>T) in cis with Hb Riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser].
Scheps KG et al.
Hemoglobin, 2012
β-Thalassemia Mutations in Jamaica: Geographic Variation in Small Communities.
Serjeant GR et al.
Hemoglobin, 0