The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation

Hb Hezhou [β64(E8)Gly→Ser; HBB: c.193G>A]: A Novel Variant on the β-Globin Gene

(2021) Yu-Lan Zhao et al.   HEMOGLOBIN

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

Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China

(2019) Haoqing Zhang et al.   JOURNAL OF CLINICAL LABORATORY ANALYSIS

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

(2019) Aaron M. Wenger et al.   NATURE BIOTECHNOLOGY

The Evolving Spectrum of the Epidemiology of Thalassemia

(2018) David J. Weatherall   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Description of a Rare β-Globin Gene Mutation: –86 (C>G) (HBB: c.-136C>G) Observed in a Syrian Family

(2018) Faten Moassas et al.   HEMOGLOBIN

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

(2017) Xuan Shang et al.   EBioMedicine

Hb Dapu (HBA2: c.52G > T): A Novel Nondeletional α-Thalassemia Mutation

(2016) Yu Yang et al.   HEMOGLOBIN

Identification of a novel variant of epsilon-gamma-delta-beta thalassemia highlights limitations of next generation sequencing

(2015) Armin Zebisch et al.   AMERICAN JOURNAL OF HEMATOLOGY

Interaction of anα-Globin Gene Triplication withβ-Globin Gene Mutations in Iranian Patients withβ-Thalassemia Intermedia

(2015) Samaneh Farashi et al.   HEMOGLOBIN

Ten Years of Routineα- andβ-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations

(2015) Shirley J. Henderson et al.   HEMOGLOBIN

Molecular Epidemiological Survey of Hemoglobinopathies in the Wuxi Region of Jiangsu Province, Eastern China

(2013) Min Lin et al.   HEMOGLOBIN

Molecular and cellular analysis of three novel alpha2-globin gene promoter mutations [HBA2:c.-59C>T], [HBA2:c.-81C>A] and [HBA2:c.-91G>A] reveal varying patterns of transcriptional and translational activities

(2013) Talal Qadah et al.   PATHOLOGY

A novel mutation of −50 (G→A) in the direct repeat element of the β-globin gene identified in a patient with severe β-thalassemia

(2009) Dong-Zhi Li et al.   ANNALS OF HEMATOLOGY