Associated Papers
Prevention and control of thalassemia in Guangdong Province, Southern China: insights from an 11-year retrospective study.
Qin D et al.
Annals of Medicine, 2025
Multi-centric origins and gene flow shape the diversity of β-thalassemia mutations in Southern East Asia.
Zhang Q et al.
Nature Communications, 2025
Genetic analysis of thalassemia in putian: comparative insights into mutation spectra with other global regions.
Yu L et al.
Annals of Hematology, 2025
Prevalence and Molecular Characteristics of Hemoglobin Variants in Laibin City, Central Guangxi of Southern China.
Huang YY et al.
Hemoglobin, 2025
The distribution and spectrum of thalassemia variants in GUIYANG region, southern China.
Zhao X et al.
Orphanet Journal of Rare Diseases, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Genotypic and phenotypic characterization of rare globin variants in Northern Guangxi, China.
Yang WJ et al.
Frontiers in Immunology, 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
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases.
You JY et al.
World Journal of Clinical Pediatrics, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Back-to-Back Comparison of Third-Generation Sequencing and Next-Generation Sequencing in Carrier Screening of Thalassemia.
Huang R et al.
Archives of Pathology & Laboratory Medicine, 2024
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
Molecular epidemiology and hematological profiles of hemoglobin variants in southern Thailand.
Tepakhan W et al.
Scientific Reports, 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
Screening for thalassemia carriers among the Han population of childbearing age in Southwestern of China.
Du Y et al.
Frontiers in Genetics, 2024
Identification of Novel Hb Guiyang [HBA2: c.151C > A α2 50 (CE8) His- Asn] and Phenotype- Genotype Correlation of Abnormal Hemoglobins in Guizhou, Southwest China.
Chen YP et al.
Journal of Blood Medicine, 2024
Distribution characteristics and clinical phenotype analyses of hemoglobin variants in the Z region of Central Guangxi, Southern China.
Chen L et al.
Hematology (amsterdam, Netherlands), 2023
The comprehensive analysis of thalassemia alleles (CATSA) based on single-molecule real-time technology (SMRT) is a more powerful strategy in the diagnosis of thalassemia caused by rare variants.
Feng J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023
Molecular spectrum of α- and β-thalassemia among individuals of reproductive age in the Zhuhai region of southern China.
Wang X et al.
International Journal of Laboratory Hematology, 2023
Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia.
Liang Q et al.
Clinical Chemistry, 2023
False hemoglobin A1c value as a result of compound heterozygotes of hemoglobin E and hemoglobin New York.
Li Y et al.
Journal of Diabetes Investigation, 2023
Evaluation of interference from 16 hemoglobin variants on hemoglobin A1c measurement by five methods.
Yang X et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Molecular epidemiological investigation of abnormal hemoglobin in Shaokwan region, southern China.
Yang H et al.
Hematology (amsterdam, Netherlands), 2022
Diamond-Blackfan anaemia caused by a de novo initiation codon mutation resulting in a shorter isoform of GATA1.
Chen T et al.
Clinical Genetics, 2022
Application of third-generation sequencing for genetic testing of thalassemia in Guizhou Province, Southwest China.
Wu J et al.
Hematology (amsterdam, Netherlands), 2022
A Case of Misdiagnosis Caused by the Coinheritance of Hb G-Siriraj [β7(A4)Glu→Lys; HBB: c.22G>A] and Hb H Disease.
Guan ZY et al.
Hemoglobin, 2022
Use of Capillary Electrophoresis Migration Position for the Presumptive Identification of Hemoglobin Variants Prevalent in China.
Xu M et al.
Hemoglobin, 2022
Hb New York, preliminary results concerning the hematologic characteristics and the effects on thalassemia.
Cheng Z et al.
Molecular Biology Reports, 2022
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
Identification of Hemoglobin Variants Prevalent in China and Their Effects on Hemoglobin A1c Measurements.
Xu A et al.
American Journal of Clinical Pathology, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.
Luo S et al.
Journal of Human Genetics, 2022
Correction to: The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.
Luo S et al.
Journal of Human Genetics, 2022
Spectrum of HBB gene mutations among 696 β-thalassemia patients and carriers in Southern Vietnam.
Xinh PT et al.
Molecular Biology Reports, 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
Molecular prevalence of HBB-associated hemoglobinopathy among reproductive-age adults and the prenatal diagnosis in Jiangxi Province, southern central China.
Luo H et al.
Frontiers in Genetics, 2022
Molecular characterization of hemoglobinopathies and thalassemias in Northern Guangdong Province, China.
Ma Z et al.
Medicine, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Combined use of gap-PCR and next-generation sequencing improves thalassaemia carrier screening among premarital adults in China.
Zhao J et al.
Journal of Clinical Pathology, 2020
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
Scheps KG et al.
Human Mutation, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Molecular epidemiology, pathogenicity, and structural analysis of haemoglobin variants in the Yunnan province population of Southwestern China.
Zhang J et al.
Scientific Reports, 2019
Simultaneous detection of target CNVs and SNVs of thalassemia by multiplex PCR and next‑generation sequencing.
Fan DM et al.
Molecular Medicine Reports, 2019