Sheffield publications in translational and precision cancer medicine
Our research integrates genomic profiling within the patient’s cancer journey, from the initial suspicion of cancer through clinical investigations, diagnosis and treatment. Genomic profiling can predict how cancers will grow and which treatments might work best for an individual. We reveal insights into the role and opportunities of modern genomics in cancer care, offer patients the opportunity to take part in the next generation of pharmaceutical studies and feed into discovery and molecular research in the University.
Publications
Journal articles
- MOFs, COFs, and HOFs. Coordination Chemistry Reviews, 560, 217805-217805.
- A bioactive hydrogel harnessing the regenerative potential of notochordal cells serves as instructive cell carrier for nucleus pulposus repair. Biomaterials, 328, 123895-123895.
- Thermal and chemical control of emission and excited-state dynamics in non-(TMS)3P-derived InP quantum dots.. J Chem Phys, 164(14).
- A Decade of Leadership and Impact: Celebrating 10 Years of the ORS Spine Section. JOR SPINE, 9(2).
- Nonanoic acid-containing polymethyl methacrylate denture base inhibits Candida albicans growth and biofilm formation. Journal of Dentistry, 106685-106685.
- Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.. Nat Genet.
- A scoping review investigating the influence of comorbidities on the use and outcomes of biological therapies in breast cancer.. J Geriatr Oncol, 17(4), 102964.
- Acetyl-Phosphate Dependent Protein Acetylation in Neisseria gonorrhoeae.. Microbiologyopen, 15(2), e70231.
- Secretome and Pathway Analysis of Stress Induced Disc Degeneration In Vitro. JOR SPINE, 9(2).
- A Network-Based Approach to Understanding Key Signaling Pathways in Intervertebral Disc Biology. JOR SPINE, 9(2).
- An extraction pipeline for analysis of hematopoietic stem cell transplantation data.. Bone Marrow Transplant.
- A Biocompatible and Flexible medium chain length PHA, P(3HB-co-20mol%3HHx) for Neural Tissue Engineering. Journal of Biotechnology.
- Innovative P(3HB)/carbon-based material composites for bone tissue regeneration: Biocompatibility, thermo-mechanical, and structural insights. Materials Today Advances, 29.
- Translating in vitro buccal permeation to in vivo and whole‑body exposure using in silico cell‑based and physiologically-based pharmacokinetic modelling.. Int J Pharm, 126701.
- Immune-adaptive pathogen variation reveals targetable mediators of gram-positive bacterial killing in macrophages.. Sci Adv, 12(9), eaea0375.
- Proton-Coupled Electron Transfer from the Hydride Perspective: Resolving Metal Oxidation and Protonation in a Hydridocarbonyl Complex by 2D-IR Spectroelectrochemistry. The Journal of Physical Chemistry Letters, 17(10), 3008-3012.
- Adult survivors of sickle cell disease, transfusion-dependent beta-thalassaemia and childhood acute leukaemia in England: protocol for a mixed methods data linkage and health-related quality of life survey study. BMJ Open, 16(2), e111664-e111664.
- 3D environment favors persistent changes in cell functions and altered morphology, wrinkling, and biomechanical signature of the nucleus. Cell Reports Physical Science, 7(2), 103116-103116.
- Doxorubicin induces bone loss and modifies multiple cell populations in vivo – Implications for modelling of bone metastasis. Journal of Bone Oncology, 56, 100736-100736.
- Co-solute Effects Reveal the Nature of Weak Forces Governing GLP-1 Oligomers Stability. Journal of Biological Chemistry, 111223-111223.
- A Pilot Project to Evaluate the Benefit of Additional Support in Haematopoietic Cell Transplant (HCT) Research Data Management on Behalf of Anthony Nolan and BSBMTCT. eJHaem, 7(1).
- Aptamer-mediated targeted approach to disrupt oncogenic HSP90α. International Journal of Biological Macromolecules, 347, 150576-150576.
- Complex Mechanical Loading and Pro‐Inflammatory Cytokines in Intervertebral Disc Degeneration. JOR SPINE, 9(1).
- Improving rigor and reproducibility through implementation of the ISSCR standards for human stem cell use in research. Stem Cell Reports, 102780-102780.
- Feasibility and Implementation of INTERVAL-GAP4: A Global Randomised Controlled Trial of Intense Hybrid-supervised/Self-managed Versus Self-directed Exercise for Metastatic Prostate Cancer. European Urology Open Science, 84, 29-39.
- Perspectives from the 2025 ISCBI/ISCI joint workshop on genetic stability, clonal monitoring, ethical data governance, and global inclusion in stem cell banking. Stem Cell Research and Therapy, 17(1).
- Oropharyngeal squamous cell carcinoma associated with human papilloma virus. Dental Update, 53(1), 46-52.
- Differential diagnosis of blistering disorders presenting in the oral cavity. Diagnostic Histopathology.
- Protocol to identify mechanosensitive nuclear proteins using tunable actomyosin contractility and proximity biotinylation in mammalian cells. STAR Protocols, 7(1), 104288-104288.
- Implications of genetic and epigenetic aberrations to the tumorigenicity of human pluripotent stem cells. Advanced Drug Delivery Reviews, 228, 115743-115743.
- Understanding the Physiological Behavior of Disc Cells in an In Vitro Imitation of the Healthy and Degenerated Disc Niche.. JOR Spine, 8(4), e70153.
- Re: Rebecca Voelker. What Is Prostate Cancer? JAMA. In press. https://doi.org/10.1001/jama.2025.10177. European Urology.
- Cost Effectiveness of Local Anaesthetic Transperineal Versus Transrectal Biopsy: Results from the TRANSLATE Study. European Urology Focus.
- Gene-specific growth charts for ASXL3-related disorder. American Journal of Medical Genetics Part A. View this article in WRRO
- RESECT: A Randomised Controlled Trial of Audit and Feedback in Non–muscle-invasive Bladder Cancer Surgery. European Urology.
- Exciting Times in Urological Oncology: Rapid Advances and Greater Complexity Are Changing Practice and Improving Outcomes. European Urology Focus.
- Nanoparticle platforms for encapsulation of therapeutic deep eutectic systems to target colorectal cancer cells. Journal of Drug Delivery Science and Technology, 114, 107517-107517.
- Analysis of mRNA multimerisation (aggregation) using non-denaturing ion-pair reversed-phase liquid chromatography. Journal of Chromatography A, 466653-466653.
- Intracellular Detection of
C. acnes
and
S. aureus
in Non‐Herniated Human Intervertebral Discs: Implications for Catabolic Signaling Pathways. JOR SPINE, 8(4).
- Editorial: In vitro transcription (IVT) reaction – the gateway to new therapeutic modalities. Frontiers in Molecular Biosciences, 12. View this article in WRRO
- Turning the tide: harnessing vaccines and viruses to fight cancer. Immunotherapy Advances. View this article in WRRO
- Immune-based risk score derived from bulk and single-cell transcriptomics enhances prognostic stratification in MDS. Blood, 146(Supplement 1), 115-115.
- Inflammatory and metabolic gene signatures predict overall survival and response to venetoclax-based therapy in TP53 mutant AML. Blood, 146(Supplement 1), 1734-1734.
- Team familiarity: Renal, bladder and p;rostate cancer surgery outcomes with respect to team composition. European Urology Open Science, 81, S346-S346.
- Health-related quality of life in muscle invasive bladder cancer patients receiving radical surgery versus those who do not: A real-world survey. European Urology Open Science, 81, S413-S414.
- Non–muscle-invasive Bladder Cancer: Many New Options, If You Can Afford Them. European Urology.
- Base-Mediated Annulation Strategy to Naphthol Boronic Ester Derivatives.. J Org Chem.
- DEVELOPMENT OF AN EX VIVO OSTEOARTHRITIC KNEE MODEL. Orthopaedic Proceedings, 107-B(SUPP_9), 82-82.
- SUN-744 Family mapping of previously identified patients with pathogenic or likely pathogenic ALPL variants using predictive genotyping and detailed phenotyping approach: the FAME case-control study. Journal of the Endocrine Society, 9(Supplement_1). View this article in WRRO
- Correction: A subset of neutrophil phagosomes is characterised by pulses of Class I PI3K activity. Disease Models & Mechanisms, 18(10).
- SIMULATING INTRACELLULAR SIGNALLING PATHWAYS IN INTERVERTEBRAL DISC HOMEOSTASIS AND DEGENERATION. Orthopaedic Proceedings, 107-B(SUPP_9), 54-54.
- Development of a community research link worker role to enable culturally tailored research and empower marginalised communities to participate: the IBISES model. Research Involvement and Engagement, 11. View this article in WRRO
- Dynamics of the CD9 interactome during bacterial infection of epithelial cells by proximity labelling proteomics. The FEBS Journal. View this article in WRRO
- Cancer cell dormancy in the bone microenvironment. Current Osteoporosis Reports, 23(1). View this article in WRRO
- The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders. European Journal of Human Genetics. View this article in WRRO
- 36International neoadjuvant kidney cancer consortium guidelines on assessing pathological response after neoadjuvant therapy in kidney cancer. The Oncologist, 30(Supplement_2).
- Revisiting Neoadjuvant Chemotherapy in Cisplatin-eligible Muscle-invasive Bladder Cancer. European Urology Oncology.
- Pathologist-like explainable AI for interpretable Gleason grading in prostate cancer. Nature Communications, 16(1). View this article in WRRO
- Erdafitinib in Patients with High- and Intermediate-risk Non–muscle-invasive Bladder Cancer: Final Analysis of THOR-2 Study. European Urology.
- Interventions for patients with prostate cancer on active surveillance: a narrative review. BJU International. View this article in WRRO
- Revisiting the genetics of hypophosphatasia. Journal of Inherited Metabolic Disease, 48(6). View this article in WRRO
- P12.58.A ROLE OF IL-33/ST2 AXIS IN GLIOBLASTOMA DEVELOPMENT AND ITS RESPONSE TO TREATMENT. Neuro-Oncology, 27(Supplement_3), iii130-iii130.
- Harnessing Artificial Intelligence in Head and Neck Oncology Practice. Otolaryngologic Clinics of North America.
- Ward AdmiSsion of Haematuria, an Observational mUlticentre sTudy: patient-level analysis (WASHOUT). European Urology Open Science, 80, S8-S8.
- Surgical Interventions Improve Survival in Patients with Metastatic Uveal Melanoma. Clinical Surgical Oncology, 100102-100102.
- Results from a UK consensus via Delphi on practical considerations surrounding risk assessment and patient monitoring for a prompt diagnosis of severe veno‐occlusive disease (VOD) in adults post‐HSCT. eJHaem, 6(5). View this article in WRRO
- Novel polyhydroxyalkanoate–graphene oxide composites with potential for clinical application against bacterial implant-associated infections in septic surgery. Frontiers in Bioengineering and Biotechnology, 13. View this article in WRRO
- The potential role of misfolded wild-type SOD1 protein in sporadic amyotrophic lateral sclerosis (ALS): a review of the evidence. Neurobiology of Disease, 216, 107124-107124.
- Genetic susceptibility and environmental risk factors in bladder cancer: evidence from the UK biobank. Bladder Cancer, 11(3). View this article in WRRO
- Mutations on the surface of HDAC1 reveal molecular determinants of specific complex assembly and their requirement for gene regulation. Nucleic Acids Research, 53(17). View this article in WRRO
- Electrospun Fibers of Polyhydroxyalkanoate/Bacterial Cellulose Blends and Their Role in Nerve Tissue Engineering. Macromolecular Materials and Engineering, 310(9).
- UK recommendations for chimerism testing and monitoring following allogeneic haematopoietic stem cell transplantation (HSCT): best practice consensus guidelines from the British Society for Blood and Marrow Transplant and Cellular Therapies (BSBMTCT), NHS England Genomic Laboratory Hub (GLH) Haematological Malignancies Working Group, UK Cancer Genetics Group (UKCGG) and the UK National External Quality Assessment Service for Leucocyte Immunophenotyping (UK NEQAS LI).. Br J Haematol. View this article in WRRO
- Indications for haematopoietic cell transplantation and CAR-T for haematological diseases, solid tumours and immune disorders: 2025 EBMT practice recommendations.. Bone Marrow Transplant. View this article in WRRO
- Real-world effectiveness of autologous haematopoietic stem cell transplantation for multiple sclerosis in the UK. Journal of Neurology, Neurosurgery & Psychiatry. View this article in WRRO
- Renal, bladder and prostate cancer surgery outcomes with respect to team familiarity. BJU International. View this article in WRRO
- RACE AND ‘OMIC’ DATA IN GLIOMA: A SYSTEMATIC REVIEW OF CONTEMPORARY RESEARCH TO EXPLORE THE DIGITAL DIVIDE. Neuro-Oncology, 27(Supplement_2), ii29-ii29.
- 144P Beyond markers: Functional assays and transcriptomics reveal CSC populations in soft tissue sarcomas. ESMO Open, 10, 105721-105721.
- 3069MO Health-related quality of life (HRQoL) outcomes from the NIAGARA trial of perioperative durvalumab (D) plus neoadjuvant chemotherapy (NAC) in muscle-invasive bladder cancer (MIBC). Annals of Oncology, 36, S1588-S1588.
- LBA111 Randomized comparison of upfront magnetic resonance imaging versus transurethral resection for staging new bladder cancers: Final survival analysis from the BladderPath trial. Annals of Oncology, 36, S1767-S1767.
- 1046P Outcome of UK germ cell patients treated with high dose chemotherapy: A 20-year review of the BSBMTCT registry. Annals of Oncology, 36, S705-S705.
- The immunotherapy landscape in AML: Defining knowledge gaps toward rational combinatorial strategies. Seminars in Hematology, 62(3), 209-217. View this article in WRRO
- Melt electrowritten medium chain length polyhydroxyalkanoate cardiac patches for Post-MI cardiac regeneration. Materials Today Bio, 34. View this article in WRRO
- Definition of relapse criteria in patients with rapidly progressive systemic sclerosis treated with autologous haemopoietic stem cell transplantation.. Bone Marrow Transplant, 1-4. View this article in WRRO
- Circular dichroism and multiphoton circularly polarized luminescence switching using a bis‐perylene diimide macrocycle. Chemistry – A European Journal. View this article in WRRO
- Autologous haematopoietic stem cell transplantation for rheumatic diseases: best practice recommendations from the EBMT practice harmonization and guidelines committee. Bone Marrow Transplantation. View this article in WRRO
- Direct observation of two-channel photodissociation of carbon monoxide from the hemoglobin subunits. Nature Communications, 16(1). View this article in WRRO
- Microultrasonography-Guided vs MRI-Guided Biopsy for Prostate Cancer Diagnosis. JAMA, 334(7), 641-641.
- NANOG is repurposed after implantation to repress Sox2 and begin pluripotency extinction. The EMBO Journal, 44(19), 5337-5374. View this article in WRRO
- Exploring the mutational spectrum of key kinase genes PIK3CA, BRAF, EGFR, ALK and ROS1 in oral squamous cell carcinoma. BMC Cancer, 25(1). View this article in WRRO
- Ward AdmiSsion of Haematuria: an Observational mUlticentre sTudy (WASHOUT) – study protocol. BMJ Open, 15(8). View this article in WRRO
- Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder. Genetics in Medicine, 27(11), 101555-101555.
- Senataxin regulates cisplatin resistance through an R-loop-mediated mechanism in HPV-associated head and neck cancer. iScience, 28(9). View this article in WRRO
- Pectin extraction from citrus waste: structural quality and yield with mineral and organic acids. Physchem, 5(3). View this article in WRRO
- Exploring the feasibility of AI-based analysis of histopathological variability in salivary gland tumours. Scientific Reports, 15. View this article in WRRO
- Determining the importance of the stringent response for methicillin-resistant staphylococcus aureus virulence in vivo. The Journal of Infectious Diseases. View this article in WRRO
- Advancing the integration of ‘basic/fundamental’ and translational cellular and gene therapy science within the EBMT: Accelerating the pathway to progress. Bone Marrow Transplantation. View this article in WRRO
- Assessment of vault particles in cancer cell line‐derived extracellular vesicle preparations. Journal of Extracellular Vesicles, 14(8). View this article in WRRO
- Substrate accessibility regulation of human TopIIa decatenation by cohesin. Nature Communications, 16(1). View this article in WRRO
- ATM inhibition increases the anti-tumor efficacy of radium-223 (Ra-223) against prostate cancer bone metastasis in preclinical models. JBMR Plus, 9(10). View this article in WRRO
- Haematopoietic stem cell transplant versus immune-reconstitution therapy in relapsing multiple sclerosis. Brain. View this article in WRRO
- Uveal melanoma UK national guidelines: 2023 update. European Journal of Cancer, 228. View this article in WRRO
- The impact of age on survival and excess mortality after autologous hematopoietic cell transplantation in newly diagnosed multiple myeloma patients. Haematologica. View this article in WRRO
- Generation of biologically responsive colon-like intestinal tissue patches from human induced pluripotent stem cells using a rapid co-differentiation platform. Stem Cell Research & Therapy.
- Therapeutic aptamers in drug discovery: future elements of the pharmaceutical arsenal?. Expert Opinion on Drug Discovery, 1-5.
- Exercise Boosts the Immune System and Enhances Immunotherapy Responses in Pancreatic Cancer and Mesothelioma. Biomolecules, 16(4), 493-493.
- TNF-α/PAD4 axis drives hyperhomocysteine-induced white matter injury after acute ischemic stroke. Acta Pharmacologica Sinica.
- Decreased Chronic
GvHD With Post‐Transplant Cyclophosphamide VersusATG in Patients With Myelofibrosis Allografted With an Unrelated Donor: A Study From the Chronic Malignancies Working Party of theEBMT . American Journal of Hematology.
- Mapping Epidermal Growth Factor Receptor-1 Sorting Domains in Endosomes with a Calibrated Three-Dimensional Expansion Microscopy Toolkit. ACS Nano.
- Tissue Damage in Rheumatoid Arthritis is Genetically linked to Low Peptidylglycine Alpha‐Amidating Monooxygenase Activity in Synovial Fibroblasts. Arthritis & Rheumatology.
- Anti-thymocyte globulin (ATG)- or alemtuzumab-based graft-versus-host disease prophylaxis in reduced-intensity conditioning allogeneic hematopoietic cell transplantation (HCT) for patients 40 years and older with acute lymphoblastic leukemia in first complete remission: a study from the EBMT Acute Leukemia Working Party. Bone Marrow Transplantation.
- Reclassification of variants of uncertain significance in type I collagen genes: a national reference laboratory experience. Journal of Medical Genetics.
- Mutational insights and in silico characterization of NEK family kinases in OSCC patients from the Pakistani population. Frontiers in Bioinformatics, 5.
- Nervous System-on-Chip: Innovative Microfluidic Platform to Compartmentalize hiPSC-Derived Neural Networks. Micromachines, 17(2), 199-199.
- Spatially resolved single-cell analysis of transcriptomic changes linked with neuropathic pain in human neuromas. Pain. View this article in WRRO
- How do clinician and parent-reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study (GenROC). Journal of Medical Genetics.
- Childhood outcomes in children with Hirschsprung disease: a population-based data linkage study in England. Frontline Gastroenterology.
- Resolving consecutive excited-state evolution in Fe-amido chromophores by wide-band optical transient absorption spectroscopy. Chemical Science.
- Independent Multicentre Validation of the ‘Six‐Point’ Model for Malignant Transformation Risk in Oral Epithelial Dysplasia. Oral Diseases.
- Are H&E-based computational models transforming molecular pathology diagnostics in cancer?. Academia Oncology, 2(4).
- Twelve-Month Results From the CISTO Study Comparing Radical Cystectomy Versus Bladder-Sparing Therapy for Recurrent High-Grade Non–Muscle-Invasive Bladder Cancer. Journal of Clinical Oncology.
- Typhoid toxin of Salmonella Typhi elicits host antimicrobial response during acute typhoid fever. EMBO Molecular Medicine.
- Effect of a Peripheral Substituent on the Ultrafast Dynamics and the rate of Intersystem Crossing in charge-transfer states of Platinum(II) acetylides. Physical Chemistry Chemical Physics.
- Position statement from the British Society of Blood and Marrow Transplantation and Cellular Therapy on insertional oncogenesis in gene‐engineered advanced cell therapy products for treatment of haematological disorders. British Journal of Haematology.
- Neglected tropical diseases (NTDs) and related infections in hematopoietic cellular therapy (HCT) in adults and children: a survey from the Infectious Diseases Working Party (IDWP) of the European Society of Blood and Marrow Transplantation (EBMT). Bone Marrow Transplantation.
- DPSCs-Exos promote OPCs differentiation and white matter repair via Myl9-mediated PRMT5 nucleation after ischemic stroke. Journal of Cerebral Blood Flow & Metabolism.
- The role of circulating tumor DNA as a prognostic biomarker in plasma of patients with oral squamous cell carcinoma. Odontology.
- Targeting angiogenesis and white matter repair for enhanced functional recovery after acute ischemic stroke: A focus on the roles of glial cells. Journal of Cerebral Blood Flow & Metabolism.
- Cancer-Associated Fibroblasts Move and Interact More with Triple-Negative Breast Cancer Cells and Stimulate Their Proliferation in a Hyaluronan-Dependent Manner. Cells, 14(21), 1663-1663.
- Familial NSD1 Exon 3 Deletion Associated with Phenotypic and Epigenetic Variability. Genes, 16(10), 1190-1190.
- Surgical familiarity: many questions but the benefits are clear. BJU International.
- Preanalytical variables and analytes in liquid biopsy approach for brain tumors: A comprehensive review and recommendations from the RANO Group and the Brain Liquid Biopsy Consortium. Neuro-Oncology.
Book chapters
- Extracellular ATP and the bone, ATP (pp. 521-543). Elsevier
Conference proceedings
- Extended multi-centre review of adjuvant pembrolizumab for renal cell carcinoma.. Journal of Clinical Oncology, Vol. 44(7_suppl) (pp 458-458)
- 37 What does the neurologist need to know about thrombotic thrombocytopenic purpura?. 37 What does the neurologist need to know about thrombotic thrombocytopenic purpura? (pp A12.1-A12)
- LATE EFFECTS IN MULTIPLE MYELOMA: A SINGLE-CENTRE FOCUSED CLINIC EXPERIENCE. BONE MARROW TRANSPLANTATION, Vol. 60 (pp 786-787)
- PATIENT REPORTED OUTCOMES IN AUTOLOGOUS ARANSPLANT IN MULTIPLE MYELOMA PATIENTS, PROSMM. SINGLE CENTRE PILOT STUDY. BONE MARROW TRANSPLANTATION, Vol. 60 (pp 780-781)
- LONG-TERM OUTCOMES AND LATE COMPLICATIONS OF ALLOGENEIC STEM CELL TRANSPLANTATION WITH T-CELL DEPLETION: EX VIVO (CD34+POSITIVE SELECTION) VS IN VIVO (ALEMTUZUMAB-BASED CONDITIONING). BONE MARROW TRANSPLANTATION, Vol. 60 (pp 156-157)
- DECREASED CHRONIC GVHD WITH PTCY COMPARED TO ATG IN PATIENTS WITH MYELOFIBROSIS ALLOGRAFTED WITH AN UNRELATED DONOR: A STUDY FROM THE CMWP OF THE EBMT. BONE MARROW TRANSPLANTATION, Vol. 60 (pp 148-149)
- NEGLECTED TROPICAL DISEASES (NTD) AND RELATED INFECTIONS IN HAEMATOPOIETIC CELLULAR THERAPY (HCT) IN ADULTS AND CHILDREN: A SURVEY FROM THE EBMT INFECTIOUS DISEASES WORKING PARTY. BONE MARROW TRANSPLANTATION, Vol. 60 (pp 571-572)
- LATE COMPLICATIONS AFTER AUTOLOGOUS HSCT FOR AUTOIMMUNE DISEASES: A RETROSPECTIVE SURVEY FROM THE AUTOIMMUNE DISEASES WP (ADWP) AND TRANSPLANT COMPLICATIONS WP (TCWP) OF THE EBMT. BONE MARROW TRANSPLANTATION, Vol. 60 (pp 16-16)
- Genotype-phenotype correlation and familial inheritance of ASXL3-related disorder. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 33 (pp 751-751)
- Variant spectrum and genotype-phenotype correlations in HNRNPK-related disorder (Au-Kline-Okamoto syndrome). EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 33 (pp 837-837)
- Analysis of R-loop forming regions discovers RNU2-2P and RNU5B-1 as non-coding neurodevelopmental disorder genes. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 33 (pp 46-46)
- Investigating the effect of missense variants in HNRNPU-related neurodevelopmental disorder. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 33 (pp 760-760)
- Body Size and Non-Muscle Invasive Bladder Cancer Outcome: What Do the Genes Say?. GENETIC EPIDEMIOLOGY, Vol. 49(7)
- Machine Learning-Based Electrical Impedance Spectroscopy Classification for Oral Cancer. 2025 International Workshop on Impedance Spectroscopy (IWIS) (pp 2-6), 23 September 2025 - 26 September 2025.
- In-depth characterization of the colonic pathology of the B6;129-Ednrbtm1Ywa/J mouse model of Hirschsprung disease and stem cell-based rescue. NEUROGASTROENTEROLOGY AND MOTILITY, Vol. 37
- Effectiveness of autologous haematopoietic stem cell transplant in comparison with anti-CD20 therapies in relapsing-remitting multiple sclerosis. MULTIPLE SCLEROSIS JOURNAL, Vol. 31(3) (pp 714-717)
- Investigating Axonal Transport in Charcot-MarieTooth Disease Type 2A Using A Pluripotent Stem Cell-Based Model. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Vol. 30(3) (pp 40-40)
- BEAM/ATG or cyclophosphamide/ATG as conditioning regimen in autologous haemopoietic stem cell transplantation for multiple sclerosis: a retrospective analysis of the EBMT autoimmune diseases working party. Bone Marrow Transplantation
Other
Preprints
- Estrogen prevents anti-tumor effects of Zoledronic acid in breast cancer through the NK and CD8+T cell PD-1/PD-L1 axes, Springer Science and Business Media LLC.
- Generation of human hindlimb/genital tubercle progenitors from pluripotent stem cells, openRxiv.
- DNA Damage Driven Viability Loss and Transcriptional Reprogramming in Chinese Hamster Ovary Cell Perfusion Culture, openRxiv.
- A bipartite mechanism for condensin II activation in mitosis, openRxiv.
- Bone Recovery After Treatment Study (BRATS) - A Protocol for a Prospective, Observational Study in Multiple Myeloma, openRxiv.
- Strong correlation between phantomless and inline phantom-based densitometric calibration of vertebral properties from CT scans of healthy volunteers, openRxiv.
- Binding Kinetics Oppositely Regulates type II Topoisomerase Relaxation and Decatenation Activities, openRxiv.
- Understanding the physiological behaviour of disc cells in an
in vitro
imitation of the healthy and degenerated disc niche, openRxiv.
- Myosin VI orchestrates estrogen-driven gene expression in breast cancer cells, Cold Spring Harbor Laboratory.
- Siglec-engaging immunosuppressive sialoglycans are upregulated in prostate cancer and are targetable to suppress bone metastasis, openRxiv.
- Reduced penetrance of
COL1A1/2
pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort, Cold Spring Harbor Laboratory.
- Childhood outcomes in children with Hirschsprung disease: a population-based data linkage study in England, Cold Spring Harbor Laboratory.
- Functional and molecular rescue of aganglionic colon by human enteric nervous system progenitor transplantation in Hirschsprung disease, Cold Spring Harbor Laboratory.
- Analysis of mRNA multimerisation (aggregation) using non-denaturing ion-pair reversed-phase HPLC, American Chemical Society (ACS).
- Verapamil limits inflammation by restoring VGCC-driven epithelial Ca2+ in models of cystic fibrosis, Cold Spring Harbor Laboratory.
- Mapping EGFR1 sorting domains in endosomes with a calibrated 3D expansion microscopy toolkit, Cold Spring Harbor Laboratory.
- Secondary nucleation of α-Synuclein drives Mitochondria dysfunctions and Lewy body formation in Parkinson’s Disease, Springer Science and Business Media LLC.
- An unbiased screening approach for identifying proteins with a mechanosensitive nuclear localization, Cold Spring Harbor Laboratory.
- Secondary nucleation of α-Synuclein drives Mitochondria dysfunctions and Lewy body formation in Parkinson’s Disease, Cold Spring Harbor Laboratory.
- Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes, Cold Spring Harbor Laboratory.