Associated Papers
High efficiency of thalassemia prevention by next-generation sequencing: a real-world cohort study in two centers of China.
Zhang J et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026
First clinical and pedigree study of rare HBB: c.316-90 A > G variant in β-globin gene in Chinese population using third-generation sequencing.
Zhuang J et al.
Annals of Hematology, 2025
Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region.
Zhuang J et al.
Bmc Medical Genomics, 2024
Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia.
Liang Q et al.
Clinical Chemistry, 2023
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
[Effect of high-throughput sequencing for the prevention and control of thalassemia].
Chen Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements.
Patsali P et al.
Journal of Clinical Medicine, 2019
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
30275481 (PubMed )
Supplement: 41431_2018_253_MOESM10_ESM.xlsx › Sheet1
Characterization of the IVS-II-821 (A>C) (HBB: c.316-30A>C) Mutation in a β-Thalassemia Phenotype in Iran.
Azimi A et al.
Hemoglobin, 2019
Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.
Kim B et al.
Plos One, 2019
30840646 (PubMed )
Supplement: pone.0212228.s002.pdf
β‑thalassemia caused by compound heterozygous mutations and cured by bone marrow transplantation: A case report.
Wu L et al.
Molecular Medicine Reports, 2017
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
Shang X et al.
Ebiomedicine, 2017
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs
Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population.
Chan OT et al.
American Journal of Clinical Pathology, 2010
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