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Browsing publications by Professor Sophie Hambleton

Newcastle AuthorsTitleYearFull text
Professor Andrew Gennery
Professor Sophie Hambleton
Dr Zohreh Nademi
Ex vivo T-lymphopoiesis assays assisting corrective treatment choice for genetically undefined T-lymphocytopenia2025
Dr Rob Forsyth
Dr Eleri Williams
Dr Michael Wright
Dr Karin Engelhardt
Dr Dipayan Mitra
et al.		Case Report: Novel neuroinflammatory syndrome associated with TONSL-related SPONASTRIME Dysplasia2025
Professor Sophie Hambleton
Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee2025
Professor Sophie Hambleton
Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4+ IL-9–expressing cells2025
Professor Sophie Hambleton
Learning from inborn errors of immunity and secondary immune deficiencies about vaccine immunogenicity, efficacy, and safety2025
Professor Sophie Hambleton
Dr Ina Schim van der Loeff
mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node2025
Rebecca Walsh
Dr Zohreh Nademi
Dr Alexandra Laberko
Dr Terence Flood
Dr Eleri Williams
et al.		Outcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency2025
Dr Marta Bertoli
Professor Patrick Chinnery
Dr Helen Griffin
Professor Sophie Hambleton
Ruxandra Neatu
et al.		Rare disease gene association discovery in the 100,000 Genomes Project2025
Dr Lauren Beck
Dr Tom Sproat
Professor Chris Lamb
Professor Andrew Filby
Dr David McDonald
et al.		Temporal characterisation of the gut microbiome and metabolome in preterm infants2025
Professor Sophie Hambleton
The 2024 update of IUIS phenotypic classification of human inborn errors of immunity.2025
Dr Rui Chen
Dr Jarmila Spegarova
Dr Joe Willet
Dr Helen Griffin
Dr Akshada Gajbhiye
et al.		NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome2024
Rokas Navickas
Dr Helen Griffin
Dr Manisha Ahuja
Angela Grainger
Professor Mary Slatter
et al.		A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant2024
Dr Su Han Lum
Dr Geoff Shenton
Professor Sophie Hambleton
Professor Andrew Gennery
Professor Mary Slatter
Alemtuzumab, Dual Graft-versus-Host Disease Prophylaxis, and Lower CD3+ T Cell Doses Equalize Rates of Acute and Chronic Graft-versus-Host Disease in Pediatric Patients Receiving Allogeneic Hematopoietic Stem Cell Transplantation with Matched Unrelated Donor Peripheral Blood Stem Cells or Bone Marrow Grafts2024
Dr Zohreh Nademi
Dr Geoff Shenton
Helen Watson
Emma Matthews
Kay Carruthers
et al.		CD3+TCRαβ/CD19+-depleted stem cell boost and CD45RO+ memory T-cell add-back as a successful salvage treatment for poor graft function unresponsive to eltrombopag, following a second allogenic HSCT2024
Dr Ana Topf
Dr Karin Engelhardt
Professor Sophie Hambleton
Professor Jordi Diaz Manera
Professor Chiara Marini Bettolo
et al.		Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses2024
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