Case report: A novel 10.8-kb deletion identified in the β-globin gene through the long-read sequencing technology in a Chinese family with abnormal hemoglobin testing results

Detection of rare thalassemia mutations using long-read single-molecule real-time sequencing

(2022) Fan Jiang et al.   GENE

Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia

(2022) Qiaowei Liang et al.   CLINICAL CHEMISTRY

A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)

(2021) Qiaowei Liang et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Long molecule sequencing: a new approach for identification of clinically significant DNA variants in alpha and beta thalassemia carriers

(2020) Liangpu Xu et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Molecular basis of β thalassemia and potential therapeutic targets

(2018) Swee Lay Thein   BLOOD CELLS MOLECULES AND DISEASES

Molecular Basis and Genetic Modifiers of Thalassemia

(2018) Sachith Mettananda et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Clinical Classification, Screening and Diagnosis for Thalassemia

(2018) Vip Viprakasit et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Thalassaemia

(2018) Ali T Taher et al.   LANCET

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies

(2017) Xuan Shang et al.   EBioMedicine

β-Thalassemia

(2016) Raffaella Origa   GENETICS IN MEDICINE

Laboratory diagnosis of thalassemia

(2016) V. Brancaleoni et al.   International Journal of Laboratory Hematology

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology

(2014) Petros Kountouris et al.   PLoS One

State of the art and new developments in molecular diagnostics for hemoglobinopathies in multiethnic societies

(2013) C. L. Harteveld   International Journal of Laboratory Hematology

Updates of the HbVar database of human hemoglobin variants and thalassemia mutations

(2013) Belinda Giardine et al.   NUCLEIC ACIDS RESEARCH

Mapping single molecule sequencing reads using basic local alignment with successive refinement (BLASR): application and theory

(2012) Mark J Chaisson et al.   BMC BIOINFORMATICS