Author
Great Ormond Street HospitalORCID 0000-0002-6097-6115Unclaimed ORCID profile · follow to get notified of new preprints
6 papers
Recent·Most cited
Dara Annett, Bethan J. Critchley, Kate L. Morling…·Greg J. Towers
BG147 enhances lentivector transduction in HSPCs ex vivo and in mouse photoreceptors in vivo by degrading IFITM3.
Asma Naseem, Winston Vetharoy, Thomas E. Whittaker…·Alessia Cavazza
This study develops a clinical-compliant framework for ex vivo CRISPR/Cas9 gene editing of HSPCs to correct WAS, showing improved engraftment and a favorable safety profile with minimal off-target effects.
Rajeev Rai, Zohar Steinberg, Marianna Romito…·Alessia Cavazza
The paper develops a CRISPR/Cas9-based gene editing strategy to correct IL7R-SCID in T cells and HSPCs, restoring IL7R expression and T cell development.
Ernest Turro, William J. Astle, Karyn Mégy…·Rachel J. Buchan
This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.
Ilenia Simeoni, Olga Shamardina, Sri V. V. Deevi…·Hana Lango Allen
The paper introduces a diagnostic gene panel called GRID for primary immunodeficiencies, showing high sensitivity and specificity in identifying genetic variants across 279 genes.
James H. R. Farmery, Mike L. Smith, NIHR BioResource - Rare Diseases…·Emma L. Wakeling
Telomerecat estimates telomere length from whole-genome sequencing data without requiring prior knowledge of ploidy, showing good performance and detecting expected patterns in various data types.