Associated Papers
Empowered Prenatal Choice-Making as a Simple Tool to Reduce Disease Burden in Severe Haemoglobinopathies by HBB Gene Variant Analysis, Prenatal Diagnosis and Genetic Counselling.
Singh K et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2026
Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2025
Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.
Byrou S et al.
International Journal of Molecular Sciences, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Genetic Profile of Beta-Thalassemia and Sickle Cell Disease in Eastern Uttar Pradesh.
Aggarwal P et al.
Indian Pediatrics, 2024
Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region.
Zhuang J et al.
Bmc Medical Genomics, 2024
mRNA-specific readthrough of nonsense codons by antisense oligonucleotides (R-ASOs).
Susorov D et al.
Nucleic Acids Research, 2024
Transcript-specific induction of stop codon readthrough using a CRISPR-dCas13 system.
Manjunath LE et al.
Embo Reports, 2024
Spectrum of Rare and Novel Indel Mutations Responsible for β Thalassemia in Eastern India.
Sinha S et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2024
Genetic epidemiology of thalassemia in couples of childbearing age: over 6 years of a thalassemia intervention project.
Zheng X et al.
Molecular Biology Reports, 2024
Identification of a Novel Variant c.163delG in HBB Gene Resulting in a Beta Null Phenotype in a Proband with Thalassemia Intermedia.
Mamata M et al.
Hemoglobin, 2024
Spectrum of Beta-Thalassemia Mutations in Potential Carriers with Microcytic Hypochromic Anemia from Mazandaran and Golestan, Northern Provinces of Iran.
Mousavi SS et al.
Biomed Research International, 2024
The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran.
Bazazzadegan N et al.
Hemoglobin, 2023
Mutational analysis of hemoglobin genes and functional characterization of detected variants, through in-silico analysis, in Pakistani beta-thalassemia major patients.
Ejaz S et al.
Scientific Reports, 2023
Genotype-Phenotype Profile of Beta-thalassemia.
Roma K et al.
Journal of Nepal Health Research Council, 2023
Hematological and genetic profiles of persons with co-inherited heterozygous β-thalassemia and supernumerary α-globin genes.
Sundaresan DD et al.
European Journal of Haematology, 2023
Rare and New Mutations of B-Globin in Azari Population of Iran, a Considerable Diversity.
Abbasali FH et al.
Balkan Journal of Medical Genetics : Bjmg, 2023
Mutation Spectrum of β-Thalassemia in Some Ethnic Groups of North Maharashtra, India.
Kumar R et al.
Hemoglobin, 2023
α- and β-Globin Gene Mutations in Individuals with Hemoglobinopathies in the Chattogram and Sylhet Regions of Bangladesh.
Kabir T et al.
Hemoglobin, 2023
Scalable noninvasive amplicon-based precision sequencing (SNAPseq) for genetic diagnosis and screening of β-thalassemia and sickle cell disease using a next-generation sequencing platform.
Gupta P et al.
Frontiers in Molecular Biosciences, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes.
Dissanayake R et al.
Bmc Pediatrics, 2022
Hb Narges Lab, a Novel Hemoglobin Variant of the β-Globin Gene.
Hamid M et al.
Archives of Iranian Medicine, 2022
Hb F Levels in β-Thalassemia Carriers and Normal Individuals: Known and Unknown Quantitative Trait Loci in the β-Globin Gene Cluster.
Manco L et al.
Hemoglobin, 2022
Effect of deletions in the α-globin gene on the phenotype severity of β-thalassemia.
Saha D et al.
Hemoglobin, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Significance of genetic modifiers of hemoglobinopathies leading towards precision medicine.
Hariharan P et al.
Scientific Reports, 2021
Drug Repurposing: Hydroxyurea Therapy Improves the Transfusion-Free Interval in HbE/Beta-Thalassemia-Major Patients with the XmnI Polymorphism.
Ghosh D et al.
Genetic Testing and Molecular Biomarkers, 2021
Frequencies of Beta Thalassemia Mutations Show Different Pattern in Bannu Region than Other Parts of Pashtun Population in Khyber Pakhtunkhwa Province Pakistan.
Rehman SU et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2021
The Spectrum of Beta-Thalassemia Mutations in Syrian Refugees and Turkish Citizens.
Gunes AK et al.
Cureus, 2021
Predictive SNPs for β0-thalassemia/HbE disease severity.
Munkongdee T et al.
Scientific Reports, 2021
The Prevalence of HBB Mutations among the Transfusion-Dependent and Non Transfusion-Dependent Hb E/β-Thalassemia Children in a Tertiary Center of West Bengal, India.
Saha J et al.
Hemoglobin, 2021
Evaluation of the High Resolution Melting Approach for Detection of β-Thalassemia Gene Mutations.
Tariq A et al.
Hemoglobin, 2021
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Prevalence of globin gene modifiers encountered in fetuses during antenatal diagnosis of hemoglobinopathies.
Mehta P et al.
International Journal of Laboratory Hematology, 2020
Development of the Next Generation Sequencing-Based Diagnostic Test for β-Thalassemia and its Validation in a Pashtun Family.
Sabiha B et al.
Hemoglobin, 2020
Molecular and geographical heterogeneity of hemoglobinopathy mutations in Azerbaijanian populations.
Aliyeva G et al.
Annals of Human Genetics, 2020
Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population.
Noor FA et al.
Orphanet Journal of Rare Diseases, 2020
Genotype/Phenotype Correlation of β-Thalassemia in Syrian Patients: A Cross-Sectional Study.
Shoujaa A et al.
Hemoglobin, 2020
Molecular Heterogeneity of β-Thalassemia in the Kohat Region, Khyber Pakhtunkhwa Province, Pakistan.
Naz S et al.
Hemoglobin, 2020
Reliability of the current newborn screening action value for beta thalassaemia disease detection in England: A prospective study.
Daniel Y et al.
Journal of Medical Screening, 2019
The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center.
Nadkarni AH et al.
International Journal of Laboratory Hematology, 2019
Compound Heterozygote of Hb S (HBB: c.20A>T)/Hb Westdale (HBB: c.380_396delTGCAGGCTGCCTATCAG): Report of Four Cases from Odisha State, India.
Dehury S et al.
Hemoglobin, 2019
Geographical distribution of β-globin gene mutations in Syria.
Murad H et al.
Hematology (amsterdam, Netherlands), 2018