Sophie Hambleton

Great Ormond Street Hospital for Children NHS Foundation Trust — United Kingdom

Immunology and Microbiology · Life Sciences

62h-index15.5kcitations245works17.82yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Immunodeficiency and Autoimmune Disorders(118), Immune Cell Function and Interaction(56), T-cell and B-cell Immunology(30), Hematopoietic Stem Cell Transplantation(29), Blood disorders and treatments(27)

Publications239 total

Socio-Demographic and Health Data of Adolescents Identifying as Transgender or Gender Diverse in the Born in Bradford’s Age of Wonder Cohort.
Wellcome Open Research·2025Open Access
Temporal characterization of the gut microbiome and metabolome in preterm infants
Microbial Genomics·2025Open Access
Case Report: Novel neuroinflammatory syndrome associated with TONSL-related SPONASTRIME Dysplasia
Wellcome Open Research·2025Open Access
mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node
Orphanet Journal of Rare Diseases·2025· 5 citedOpen Access
The 2024 update of IUIS phenotypic classification of human inborn errors of immunity
Journal of Human Immunity·2025· 76 citedOpen Access
Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee
Journal of Human Immunity·2025· 157 citedOpen Access
Rare disease gene association discovery in the 100,000 GenomesProject
Nature·2025· 13 citedOpen Access
Ex vivo T-lymphopoiesis assays assisting corrective treatment choice for genetically undefined T-lymphocytopenia
Clinical Immunology·2025· 1 citedOpen Access
Outcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency
Journal of Clinical Immunology·2025· 5 citedOpen Access
Learning from inborn errors of immunity and secondary immune deficiencies about vaccine immunogenicity, efficacy, and safety
Clinical & Experimental Immunology·2025· 1 citedOpen Access
Socio-Demographic and Health Data of Adolescents Identifying as Transgender or Gender Diverse in the Born in Bradford's Age of Wonder Cohort
SSRN Electronic Journal·2025Open Access
Assessing the state of polypectomy practice: are we ready for the new colonoscopy training pathway?
Frontline Gastroenterology·2024Open Access
Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4+ IL-9–expressing cells
Journal of Allergy and Clinical Immunology·2024· 3 citedOpen Access
Neutralizing Autoantibodies against Interleukin-10 in Inflammatory Bowel Disease
New England Journal of Medicine·2024· 36 citedOpen Access
CD3<sup>+</sup>TCRαβ/CD19<sup>+</sup>‐depleted stem cell boost and CD45RO<sup>+</sup> memory T‐cell add‐back as a successful salvage treatment for poor graft function unresponsive to eltrombopag, following a second allogenic HSCT
Pediatric Blood & Cancer·2024
<i>NUDCD3</i> deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome
Science Immunology·2024· 5 citedOpen Access
A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant
Journal of Clinical Investigation·2024· 25 citedOpen Access
Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3
Journal of Clinical Immunology·2024· 3 citedOpen Access
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
The American Journal of Human Genetics·2024· 20 citedOpen Access
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study
The Lancet Haematology·2024· 15 cited
page 1 of 12Next →

Frequent Co-authors

Andrew J. Cant(18), Karin R. Engelhardt(9), C.J. Duncan(8), Muzlifah Haniffa(8), Jean‐Laurent Casanova(8), Mary Slatter(8), Peter D. Arkwright(8), Bodo Grimbacher(7), Stuart G. Tangye(7), Andrew R. Gennery(7), Mario Abinun(6), Venetia Bigley(6), David McDonald(6), Matthew Collin(6), Klaus Warnatz(6), S. Cindy(6), Waseem Qasim(6), Troy R. Torgerson(5), Florian Gothe(5), Satoshi Okada(5)