Associated Papers
Short report: Targeted analysis of whole exome sequencing data in Indian cryptogenic stroke patients.
Dev P et al.
Plos One, 2026
Next-Generation Sequencing Identifies Novel Germline Mutations in Patients with Budd-Chiari Syndrome-Associated Hepatocellular Carcinoma.
Kumar S et al.
Digestive Diseases and Sciences, 2025
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
Detection of a Rare Mutation in the Initiation Codon of the β-Globin Gene (HBB:C.2T > C; P.Met1Thr).
Shamoon R et al.
Hemoglobin, 2023
Molecular classification of blood and bleeding disorder genes.
Baz B et al.
Npj Genomic Medicine, 2021
34272389 (PubMed )
Supplement: 41525_2021_228_MOESM1_ESM.pdf
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
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
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