Associated Papers
The distribution and spectrum of thalassemia variants in GUIYANG region, southern China.
Zhao X et al.
Orphanet Journal of Rare Diseases, 2025
Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.
Burren OS et al.
Nature Genetics, 2024
39192095 (PubMed )
Supplement: 41588_2024_1884_MOESM4_ESM.xlsx › ST7_ExWAS
Comprehensive analysis of thalassemia alleles (CATSA) based on third-generation sequencing is a comprehensive and accurate approach for neonatal thalassemia screening.
Long J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Genetic epidemiology of thalassemia in couples of childbearing age: over 6 years of a thalassemia intervention project.
Zheng X et al.
Molecular Biology Reports, 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
Combined Gap-Polymerase Chain Reaction and Targeted Next-Generation Sequencing Improve α- and β-Thalassemia Carrier Screening in Pregnant Women in Vietnam.
Lam TT et al.
Hemoglobin, 2022
Spectrum of HBB gene mutations among 696 β-thalassemia patients and carriers in Southern Vietnam.
Xinh PT et al.
Molecular Biology Reports, 2022
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
Scheps KG et al.
Human Mutation, 2020
Two novel unstable hemoglobin variants due to in-frame deletions of key amino acids in the β-globin chain.
Scheps KG et al.
European Journal of Haematology, 2018
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
Shang X et al.
Ebiomedicine, 2017
Prevalence and genetic analysis of α-thalassemia and β-thalassemia in Chongqing area of China.
Yao XY et al.
Gene, 2013
[Prevalence and molecular analysis of β-thalassemia in children of Han ethnicity in Chongqing city].
Yao XY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013
Compound heterozygosity of Hb Hamilton and de novo mutated HbM Saskatoon.
Brunner-Agten S et al.
Annals of Hematology, 2010
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