Associated Papers
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
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations.
Kuchenbaecker K et al.
Scientific Reports, 2022
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.
Gao D et al.
Nature Communications, 2021
Evaluation of the High Resolution Melting Approach for Detection of β-Thalassemia Gene Mutations.
Tariq A et al.
Hemoglobin, 2021
Prevalence of globin gene modifiers encountered in fetuses during antenatal diagnosis of hemoglobinopathies.
Mehta P et al.
International Journal of Laboratory Hematology, 2020
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
Scheps KG et al.
Human Mutation, 2020
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
Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".
Kirk EP et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
A Novel Mutation at HBB: c.91delA (Codon 30, -A) Causing β-Thalassemia in a Chinese Family.
Jia W et al.
Acta Haematologica, 2019
High resolution melting curve analysis targeting the HBB gene mutational hot-spot offers a reliable screening approach for all common as well as most of the rare beta-globin gene mutations in Bangladesh.
Islam MT et al.
Bmc Genetics, 2018
The Frequency of HBB Mutations Among β-Thalassemia Patients in Hamadan Province, Iran.
Jalilian M et al.
Hemoglobin, 2017
The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population.
Yasmeen H et al.
European Journal of Medical Genetics, 2016
Broader spectrum of β-thalassemia mutations in Oman: regional distribution and comparison with neighboring countries.
Hassan SM et al.
Hemoglobin, 2015
Mutation Spectrum of β-Thalassemia and Other Hemoglobinopathies in Chittagong, Southeast Bangladesh.
Chatterjee T et al.
Hemoglobin, 2015
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Molecular basis of β-thalassemia in Karnataka, India.
Kulkarni GD et al.
Genetic Testing and Molecular Biomarkers, 2012
Rare β- and δ-Globin Gene Mutations in the Pathare Prabhus: Original Inhabitants of Mumbai, India.
Gorakshakar AC et al.
Hemoglobin, 0
Genetic basis of ß-thalassemia in families of pashtun ethnicity in Dera Ismail Khan district of Khyber Pakhtun-Khwa province, Pakistan.
Ayaz M et al.
Expert Review of Hematology, 0