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

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

(2022) Fan Jiang et al.   GENE

Early genetic screening uncovered a high prevalence of thalassemia among 18,309 neonates in Guizhou, China

(2021) Mei Tan et al.   CLINICAL GENETICS

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

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

Molecular Characterization of α- and β-Thalassaemia Among Children From 1 to 10 Years of Age in Guangxi, A Multi-Ethnic Region in Southern China

(2021) Sheng He et al.   Frontiers in Pediatrics

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

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 epidemiological and hematological profile of thalassemia in the Dongguan Region of Guangdong Province, Southern China

(2020) Qi Peng et al.   JOURNAL OF CLINICAL LABORATORY ANALYSIS

The carriage rates of αααanti3.7, αααanti4.2, and HKαα in the population of Guangxi, China measured using a rapid detection qPCR system to determine CNV in the α-globin gene cluster

(2020) Ju Long et al.   GENE

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

Prenatal and preimplantation diagnosis of hemoglobinopathies

(2018) C. Vrettou et al.   International Journal of Laboratory Hematology

Thalassaemia

(2018) Ali T Taher et al.   LANCET

Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China

(2017) Jing He et al.   GENETICS IN MEDICINE

Pre Gestational Thalassemia Screening in Mainland China: The First Two Years of a Preventive Program

(2017) Fan Jiang 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

EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies

(2015) Joanne Traeger-Synodinos et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The spectrum of α- and β-thalassemia mutations of the Li people in Hainan Province of China

(2014) Hongxia Yao et al.   BLOOD CELLS MOLECULES AND DISEASES

The Prevalence and Molecular Spectrum of α- and β-Globin Gene Mutations in 14,332 Families of Guangdong Province, China

(2014) Aihua Yin et al.   PLoS One

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

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

Thalassaemia

(2011) Douglas R Higgs et al.   LANCET

Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China

(2010) F Xiong et al.   CLINICAL GENETICS

Global epidemiology of haemoglobin disorders and derived service indicators

(2008) Bernadette Modell   BULLETIN OF THE WORLD HEALTH ORGANIZATION