Identification of rare thalassemia variants using third-generation sequencing

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

(2022) Fan Jiang et al.   GENE

Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare α- and β-Globin Gene Variants in Thalassemia Alleles in the Chinese Population

(2022) Jianlong Zhuang et al.   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

A novel 15.8 kb deletion α-thalassemia confirmed by long-read single-molecule real-time sequencing: Hematological phenotypes and molecular characterization

(2022) Zeyan Zhong et al.   CLINICAL BIOCHEMISTRY

Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing

(2022) Yingdi Liu et al.   CLINICAL CHEMISTRY

A novel rearrangement of the α-globin gene cluster containing both the −α3.7 and ααααanti4.2 crossover junctions in a Chinese family

(2022) Sisi Ning et al.   CLINICA CHIMICA ACTA

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

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

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

(2021) Shiqiang Luo et al.   JOURNAL OF HUMAN GENETICS

Thalassaemia

(2018) Ali T Taher et al.   LANCET

Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics

(2018) Simon Ardui et al.   NUCLEIC ACIDS RESEARCH

Preconception carrier screening and prenatal diagnosis in thalassemia and hemoglobinopathies: challenges and future perspectives

(2017) Joanne Traeger-Synodinos et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Population Screening for Hemoglobinopathies

(2016) H.W. Goonasekera et al.   Annual Review of Genomics and Human Genetics

A novel selective deletion of the major α-globin regulatory element (MCS-R2) causing α-thalassaemia

(2016) Man-Yu Wu et al.   BRITISH JOURNAL OF HAEMATOLOGY

Laboratory diagnosis of thalassemia

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

Characterization of Hb Lepore Variants in the UK Population

(2014) Lina Guo et al.   HEMOGLOBIN

World Distribution, Population Genetics, and Health Burden of the Hemoglobinopathies

(2013) T. N. Williams et al.   Cold Spring Harbor Perspectives in Medicine

Analysis Of δ-Globin Gene Mutations in the Chinese Population

(2012) Na Liu et al.   HEMOGLOBIN

Alpha-thalassemia

(2011) Renzo Galanello et al.   GENETICS IN MEDICINE

Thalassaemia

(2011) Douglas R Higgs et al.   LANCET

Significant haemoglobinopathies: guidelines for screening and diagnosis

(2010) Kate Ryan et al.   BRITISH JOURNAL OF HAEMATOLOGY

Beta-thalassemia

(2010) Antonio Cao et al.   GENETICS IN MEDICINE

Global epidemiology of haemoglobin disorders and derived service indicators

(2008) Bernadette Modell   BULLETIN OF THE WORLD HEALTH ORGANIZATION