Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
De-novo ATR-16 syndrome associated with inherited hemoglobin Evanston causing HbH phenotype: a rare occurrence.
Jajodia E et al.
Annals of Hematology, 2024
Additional value of red blood cell parameters in predicting uncommon α-thalassemia; experience from 10 years of α-globin gene sequencing and copy number variation analysis.
Fjeld B et al.
International Journal of Laboratory Hematology, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
Scheps KG et al.
Human Mutation, 2020
Iranian patients with hemoglobin H disease: genotype-phenotype correlation.
Paridar M et al.
Molecular Biology Reports, 2019
Evaluation of an immunochromatographic test for alpha thalassaemia screening in a multi-ethnic population.
Nelson AC et al.
International Journal of Laboratory Hematology, 2019
The Spectrum of α-Thalassemia Mutations in the Lak Population of Iran.
Moradi K et al.
Hemoglobin, 2019
Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study.
Keikhaei B et al.
Biochemical Genetics, 2018
In-Silico Computing of the Most Deleterious nsSNPs in HBA1 Gene.
AbdulAzeez S et al.
Plos One, 2016
Molecular spectrum of α-globin gene defects in the Omani population.
Hassan SM et al.
Hemoglobin, 2014
Molecular characterization of alpha-thalassemia in the Dohuk region of Iraq.
Al-Allawi NA et al.
Hemoglobin, 2009
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