Associated Papers
Genotype-Phenotype Correlation of Seven Known and Novel β-Globin Gene Variants.
Singha K et al.
International Journal of Molecular Sciences, 2025
Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.
Ye Y et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
Molecular and haematological characterisation of haemolytic anaemia associated with biallelic KLF1 mutations: a case series.
Singha K et al.
Journal of Clinical Pathology, 2024
Targeted next-generation sequencing and long-read HiFi sequencing provide novel insights into clinically significant KLF1 variants.
Ye L et al.
Bmc Genomics, 2024
Molecular basis of non-deletional HPFH in Thailand and identification of two novel mutations at the binding sites of CCAAT and GATA-1 transcription factors.
Singha K et al.
Scientific Reports, 2023
A stepwise haematological screening and whole-exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A2 from a cohort of 47336 individuals.
Lou J et al.
International Journal of Laboratory Hematology, 2023
Whole-exome sequencing uncovered genetic diagnosis of severe inherited haemolytic anaemia: Correlation with clinical phenotypes.
Songdej D et al.
British Journal of Haematology, 2022
Targeted Next-Generation Sequencing Reveals a Large Novel β-Thalassemia Deletion that Removes the Entire HBB Gene.
Yin ZZ et al.
Hemoglobin, 2022
Compound Heterozygosity for KLF1 Mutations Causing Hemolytic Anemia in Children: A Case Report and Literature Review.
Xu L et al.
Frontiers in Genetics, 2021
Analysis of the Genotypes in a Chinese Population with Increased Hb A2 and Low Hematological Indices.
Jiang F et al.
Hemoglobin, 2018
KLF1 gene and borderline hemoglobin A2 in Saudi population.
Borgio JF et al.
Archives of Medical Science : Ams, 2018
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
Shang X et al.
Ebiomedicine, 2017
Can mutations in the gene encoding transcription factor EKLF (Erythroid Krüppel-Like Factor) protect us against infectious and parasitic diseases?
Mikołajczyk K et al.
Postepy Higieny I Medycyny Doswiadczalnej (online), 2016
Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants.
Perkins A et al.
Blood, 2016
Changes in hematological parameters in α-thalassemia individuals co-inherited with erythroid Krüppel-like factor mutations.
Yu LH et al.
Clinical Genetics, 2015
Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations.
Waye JS et al.
International Journal of Laboratory Hematology, 2015
Delineation of the molecular basis of borderline hemoglobin A2 in Chinese individuals.
Lou JW et al.
Blood Cells, Molecules & Diseases, 2014
KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia.
Liu D et al.
Blood, 2014