β-Thalassemia Trait Caused by SUPT5H Defects: Another Case Report

Next-Generation Sequencing (NGS) and Third-Generation Sequencing (TGS) for the Diagnosis of Thalassemia

(2023) Syahzuwan Hassan et al.   Diagnostics

RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation

(2023) Danya J. Martell et al.   DEVELOPMENTAL CELL

A stepwise haematological screening and whole‐exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A 2 from a cohort of 47336 individuals

(2022) Jiwu Lou et al.   International Journal of Laboratory Hematology

Applications of next generation sequencing in the screening and diagnosis of thalassemia: A mini-review

(2022) Syahirah Amnani Suhaimi et al.   Frontiers in Pediatrics

The Evolving Role of Next-Generation Sequencing in Screening and Diagnosis of Hemoglobinopathies

(2021) Ahlem Achour et al.   Frontiers in Physiology

A novel SUPT5H variant associated with a beta‐thalassaemia trait

(2021) Theo Charnay et al.   BRITISH JOURNAL OF HAEMATOLOGY

Molecular genetics of β-thalassemia

(2021) Tang-Her Jaing et al.   MEDICINE

A new gene associated with a beta-thalassemia phenotype: the observation of variants in SUPT5H

(2020) Ahlem Achour et al.   BLOOD

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

A Melting Curve Analysis–Based PCR Assay for One-Step Genotyping of β-Thalassemia Mutations

(2011) Fu Xiong et al.   JOURNAL OF MOLECULAR DIAGNOSTICS