Author

N. A. Malik

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Open access Sep 2026

Prime Editing Corrects the HBB Codon 8/9 (+G) Mutation in Patient-Derived Induced Pluripotent Stem Cells and Restores β-Globin Expression in iPSC-Derived Erythroid Cells

Background Homozygosity for the HBB codon 8/9 (+G) frameshift (c.27dup (p.Ser10ValfsTer14)) causes transfusion-dependent β⁰-thalassaemia and is common in South Asia. Prime editing can reverse this insertion without double-strand breaks or donor DNA, but its efficiency depends on pegRNA design. Methods We derived Sendai...

Irfan Hussain, Kainaat Mumtaz, Maliha Javed et al. · bioRxiv · 0 citations

Review Open access Jul 2026

Whole-exome sequencing reveals novel and previously reported variants in genes linked to white matter pathology in neurodevelopmental disorders.

This study highlights the effectiveness of whole-exome sequencing as a diagnostic tool for heterogeneous neurological disorders and provides additional evidence supporting gene-disease associations in conditions linked to white matter pathology.

N. Ahmad, T. Aleem, Chunyu Liu et al. · European Journal of Human Ge... · 0 citations