Member Publications
Recent publications from members of the Mellanby Centre.
Publications
Journal articles
- A bioactive hydrogel harnessing the regenerative potential of notochordal cells serves as instructive cell carrier for nucleus pulposus repair. Biomaterials, 328, 123895-123895.
- A Decade of Leadership and Impact: Celebrating 10 Years of the ORS Spine Section. JOR SPINE, 9(2).
- Does osteogenesis imperfecta predispose infants to metaphyseal fractures? A systematic review. BMJ Paediatrics Open, 10(1), e003755-e003755.
- Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.. Nat Genet.
- Assessing the reproducibility of a subject-specific finite element modelling pipeline for the human metastatic vertebrae.. Sci Rep.
- Developing an artificial intelligence tool for detecting fractures of child abuse: preliminary findings. EUROPEAN RADIOLOGY.
- Reply to the Letter to the Editor: Rib fracture diagnosis in suspected abuse—clinical and methodological considerations. European Radiology, 1-3.
- EX VIVO EXPLORATION OF PCRX-201 IN HUMAN KNEE OSTEOARTHRITIS TISSUES. Osteoarthritis and Cartilage, 34, S315-S315.
- Using Mesendoderm Progenitor Cells Seeded in Hydrogel Biomaterial as a strategy to Regenerate the Intervertebral disc. Osteoarthritis and Cartilage, 34, S316-S317.
- Correction: Predictive value of BMD for hip and other fractures: a meta-analysis to update FRAX.. Osteoporos Int.
- Fracture detection using a low-dose computed tomography paediatric bone fracture phantom: A multi-reader study of radiographers. Radiography, 32(3), 103333-103333.
- Automatic segmentation of placenta from MR images using a novel BiGC U-Net. IEEE Journal of Biomedical and Health Informatics. View this article in WRRO
- 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).
- Expected change: a new concept for monitoring patients on oral bisphosphonates.. J Bone Miner Res.
- Doxorubicin induces bone loss and modifies multiple cell populations in vivo – Implications for modelling of bone metastasis. Journal of Bone Oncology, 56, 100736-100736.
- DXA-derived three-dimensional finite element models of the femur: validation against CT-based models. Bone, 117830-117830.
- Rib fracture diagnosis in suspected abuse: Computed tomography or radiographs (RECEPTOR)? A multicentre diagnostic accuracy observational study. European Radiology.
- Complex Mechanical Loading and Pro‐Inflammatory Cytokines in Intervertebral Disc Degeneration. JOR SPINE, 9(1).
- Response to Letter to the Editor Regarding "The relationship between treatment-related changes in total hip BMD measured after 12, 18, and 24 mo and fracture risk reduction in osteoporosis clinical trials: the FNIH-ASBMR-SABER project".. J Bone Miner Res.
- Understanding the Physiological Behavior of Disc Cells in an In Vitro Imitation of the Healthy and Degenerated Disc Niche.. JOR Spine, 8(4), e70153.
- Gene-specific growth charts for ASXL3-related disorder. American Journal of Medical Genetics Part A. View this article in WRRO
- Inequity in imaging: Why it matters? A statement from the Equity, Diversity and Inclusion Subcommittee of the European Society of Radiology. Insights into Imaging, 16(1), 263.
- AI implementation in pediatric radiology for patient safety: a multi-society statement from the ACR, ESPR, SPR, SLARP, AOSPR, SPIN. Pediatric Radiology. View this article in WRRO
- Intracellular Detection of
C. acnes
and
S. aureus
in Non‐Herniated Human Intervertebral Discs: Implications for Catabolic Signaling Pathways. JOR SPINE, 8(4).
- Artificial Intelligence Implementation in Pediatric Radiology for Patient Safety: A Multisociety Statement From the ACR, ESPR, SPR, SLARP, AOSPR, SPIN. Journal of the American College of Radiology.
- 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
- SAT-808 Treatment-related changes in total hip bone mineral density and fracture risk reduction for trials with active control and sequential therapy: the Fnih-Asbmr-Sabre project. Journal of the Endocrine Society, 9(Supplement_1). View this article in WRRO
- COMPARISON OF SPINAL LOAD PREDICTIONS FROM MUSCULOSKELETAL AND STATISTICAL SHAPE MODELLING. Orthopaedic Proceedings, 107-B(SUPP_9), 94-94.
- CLINICALLY RELEVANT PARAMETERS TO STRATIFY THE RISK OF FRACTURE IN VERTEBRAE WITH METASTASES: INSIGHT FROM BIOMECHANICAL EXPERIMENTS. Orthopaedic Proceedings, 107-B(SUPP_9), 92-92.
- THE METASTRA PROJECT: DEVELOPMENT AND VALIDATION OF COMPUTATIONAL TOOLS TO STRATIFY PATIENTS WITH VERTEBRAL METASTASES AT RISK OF FRACTURE. Orthopaedic Proceedings, 107-B(SUPP_9), 91-91.
- SIMULATING INTRACELLULAR SIGNALLING PATHWAYS IN INTERVERTEBRAL DISC HOMEOSTASIS AND DEGENERATION. Orthopaedic Proceedings, 107-B(SUPP_9), 54-54.
- Demographics of epithelioid trophoblastic tumour and placental site trophoblastic tumour: a 21 year UK population study. Journal of Obstetrics and Gynaecology, 45(1).
- 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
- Computed tomography radiation dose optimization for the diagnosis of acute rib fractures in infants investigated for suspected physical abuse: An experimental animal study. Child Abuse & Neglect, 169, 107725-107725.
- Revisiting the genetics of hypophosphatasia. Journal of Inherited Metabolic Disease, 48(6). View this article in WRRO
- International guidelines for the imaging investigation of suspected child physical abuse (IGISPA): a protocol for a modified Delphi consensus study. BMJ Open, 15(9). View this article in WRRO
- The 2024 UK clinical guideline for the prevention and treatment of osteoporosis. Archives of Osteoporosis, 20(1). View this article in WRRO
- Quantifying the local strain energy density distribution in the mouse tibia: the critical role of the loading direction. Biomechanics and Modeling in Mechanobiology. View this article in WRRO
- Dysbiosis as a driving force for the relationship between obesity and secondary osteoporosis. Obesity Medicine, 57, 100637-100637.
- Family history of fracture and fracture risk: a meta-analysis to update the FRAX® risk assessment tool. Osteoporosis International. View this article in WRRO
- Barriers and solutions for global access to osteoporosis management: a position paper from the international osteoporosis foundation. Osteoporosis International, 36(9), 1495-1507. View this article in WRRO
- Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder. Genetics in Medicine, 27(11), 101555-101555.
- Parathyroid hormone receptor agonists in the management of osteoporosis. Nature Reviews Rheumatology, 21(10), 599-611.
- Body mass index and subsequent fracture risk: a meta-analysis to update FRAX®. Journal of Bone and Mineral Research, 40(10), 1144-1155. View this article in WRRO
- Diminishing returns of fall reduction for hip fracture prevention in older age. Osteoporosis International, 36(9), 1749-1751. 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
- Treatment-related changes in total hip bone mineral density are applicable to trials of varied study designs and to drugs with differing mechanisms of action: meta-regression results from the FNIH-ASBMR SABRE study. Journal of Bone and Mineral Research. View this article in WRRO
- DigiBete, a novel chatbot to support transition to adult care of young people/young adults with type 1 diabetes mellitus: outcomes from a prospective, multimethod, nonrandomized feasibility and acceptability study. JMIR Diabetes, 10. View this article in WRRO
- Fracture-related hospitalisations in newly diagnosed high-risk localised or metastatic hormone-sensitive prostate cancer: secondary analysis of the STAMPEDE phase III trials of docetaxel and zoledronic acid using healthcare systems data. Annals of Oncology. View this article in WRRO
- Effect of FRAXplus adjustments on fracture risk reclassification in older Swedish women—results from the SUPERB-study. Osteoporosis International, 36(9), 1649-1659. View this article in WRRO
- Guidelines for the correct use of the nomenclature of biochemical indices of bone status: a position statement of the Joint IOF Working Group and IFCC Committee on Bone Metabolism. Laboratory Service, 14(2), 40-40.
- An overview of reliable and representative DVC measurements for musculoskeletal tissues. Journal of Microscopy. View this article in WRRO
- Mapping the Metastatic Landscape: A Population‐Based Cohort Study for Prognostic Insights Into Newly Diagnosed Stage IV Breast Cancer Cases. Cancer Innovation, 4(5).
- Identifying the Impacts, Obstacles and Information Barriers for Parents of Children Living With Genetic Neurodevelopmental Disorders: A Qualitative Study. Health expectations : an international journal of public participation in health care and health policy, 28(4).
- Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes. Nature Genetics, 1-1.
- An international ASXL3 natural history study: deep phenotypic analyses including detailed reports of a milder phenotype, novel associations, and clinical recommendations. American Journal of Medical Genetics Part A. View this article in WRRO
- Intervertebral disc degeneration increases surface strain on metastatic vertebrae in compression and flexion but not in torsion. Journal of the Mechanical Behavior of Biomedical Materials, 170. View this article in WRRO
- Management of aromatase inhibitor-associated bone loss (AIBL) in women with hormone-sensitive breast cancer: An updated joint position statement of the IOF, CABS, ECTS, IEG, ESCEO, IMS, and SIOG. Journal of Bone Oncology, 53, 100694-100694.
- The management of hypothalamic obesity in craniopharyngioma. Best Practice & Research Clinical Endocrinology & Metabolism, 102018-102018.
- Development of a multicentre cohort study to understand the role of MRI and ultrasound in the diagnosis of acute haematogenous bone and joint infection in children (the PIC Bone study): a study protocol. Bone & Joint Open, 6(6), 677-684. View this article in WRRO
- Effects of vitamin D3, omega-3s, and a simple home exercise program on incident vertebral fractures: the DO-HEALTH randomized controlled trial. Journal of Bone and Mineral Research, 40(9), 1035-1044. View this article in WRRO
- Asia–Pacific consensus for the management of osteoporosis in men. Osteoporosis International, 36(7), 1105-1114. View this article in WRRO
- Targeting metastasis in paediatric bone sarcomas. Molecular Cancer, 24. View this article in WRRO
- Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes. Nature Genetics, 57(6), 1362-1366. View this article in WRRO
- Bone histomorphometry for the diagnosis of renal osteodystrophy – a European consensus statement. Bone, 199. View this article in WRRO
- An observational study of the prevalence of classic metaphyseal fractures in children with osteogenesis imperfecta in the first two years of life. Clinical Radiology, 87, 106964-106964.
- Forearm BMD predicts fracture independently of FRAX. Osteoporosis International.
- Albumin-adjusted (“corrected”) calcium should no longer be reported: a position statement from the Joint IOF Working Group and IFCC Committee on Bone Metabolism and EFLM Committee on CKD. Clinical Chemistry and Laboratory Medicine (CCLM).
- Equity, diversity, and inclusion: variations in clinical and academic radiology. Insights into Imaging, 17(1).
- Adjusting fracture probability according to duration of diabetes: the Manitoba BMD Registry. Osteoporosis International.
- Correction: A meta-analysis of previous falls and subsequent fracture risk in cohort studies. Osteoporosis International.
- Predictive value of BMD for hip and other fractures: a meta-analysis to update FRAX. Osteoporosis International.
- Predicting Fracture Risk After Non-Recent High Risk Fracture: Improving accuracy with simple modifiers to FRAX. Journal of Bone and Mineral Research.
- A meta-analysis of smoking and fracture risk to update the FRAX® tool. Osteoporosis International.
- Bone turnover markers in the management of CKD-associated osteoporosis – a European consensus. Nephrology Dialysis Transplantation.
- Reclassification of variants of uncertain significance in type I collagen genes: a national reference laboratory experience. Journal of Medical Genetics.
- Fracture Probability is Predictive of Fall-Associated Hospitalization: The Manitoba BMD Registry. Journal of Bone and Mineral Research.
- Post-mortem imaging in suspected child physical abuse: a systematic review. European Radiology.
- UK consensus guidelines for multidisciplinary care of children and young people with achondroplasia: a modified Delphi process. Archives of Disease in Childhood.
- 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.
- Correction: AI implementation in pediatric radiology for patient safety: a multi-society statement from the ACR, ESPR, SPR, SLARP, AOSPR, SPIN. Pediatric Radiology.
- Quantitative Sensory Testing Reveals Evidence of Altered Pain Processing in Paget’s Disease of Bone. Calcified Tissue International, 117(1).
- A Consensus Statement on the management of Vertebral Fractures in CKD stages G4-G5D. Nephrology Dialysis Transplantation.
- Epidemiology of hip fracture in Iraq and development of a country-specific FRAX model. Archives of Osteoporosis, 20(1).
- Baseline Characteristics of the TOPaZ Study: Randomised Trial of Teriparatide and Zoledronic Acid Compared with Standard Care in Adults with Osteogenesis Imperfecta. Calcified Tissue International, 116(1).
- Randomized controlled trial of an oral Gastrin Receptor Antagonist for the treatment of postmenopausal osteoporosis. Journal of Bone and Mineral Research.
- TGF-beta coordinates changes in Keratin gene expression during complex tissue regeneration. Scientific Reports, 15(1).
- 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.
- Author Correction: Parathyroid hormone receptor agonists in the management of osteoporosis. Nature Reviews Rheumatology.
- Serum β-CTX-I to predict ONJ? The false promise of a number. Osteoporosis International.
- Real-World Effectiveness of Burosumab in Adults with X-Linked Hypophosphataemia (XLH) in the UK. Calcified Tissue International, 116(1).
- The Michael Mason Prize: Development and feasibility testing of a complex intervention to improve adherence to fracture prevention medicine. Rheumatology.
- The importance of laboratory medicine in the management of CKD-MBD: insights from the KDIGO 2023 controversies conference. Clinical Chemistry and Laboratory Medicine (CCLM).
- Real-world data from a national survey on management of CKD-associated osteoporosis among Italian nephrologists. Archives of Osteoporosis, 20(1).
- GM Mustard in India: An Ex-ante Impact Assessment. National Academy Science Letters.
- Identification of recurrences in women diagnosed with early invasive breast cancer using routinely collected data in England. BJC Reports, 3(1).
Book chapters
- Extracellular ATP and the bone, ATP (pp. 521-543). Elsevier
Conference proceedings
- 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)
- Assessing Fracture Probability After Non-Recent High-Risk Fracture: The Manitoba BMD Registry. JOURNAL OF BONE AND MINERAL RESEARCH, Vol. 40
- TYPE I DIABETES MELLITUS IS ASSOCIATED WITH INCREASED FRACTURE RISK INDEPENDENT OF BONE MINERAL DENSITY: AN INTERNATIONAL META-ANALYSIS. AGING CLINICAL AND EXPERIMENTAL RESEARCH, Vol. 37(1) (pp 21-21)
- ENHANCING FRACTURE RISK PREDICTION: A COHORT-SPECIFIC MODEL INTEGRATING FRAXPLUS® VARIABLES FOR IMPROVED ACCURACY AND RECLASSIFICATION. AGING CLINICAL AND EXPERIMENTAL RESEARCH, Vol. 37(1) (pp 25-26)
- CHALLENGES OF CLINICAL TRIALS FOR NEW OSTEOPOROSIS MEDICATIONS. AGING CLINICAL AND EXPERIMENTAL RESEARCH, Vol. 37(1) (pp 93-93)
- 7752 The LMSz method: a new automatable method for producing gene specific growth charts for children with genetic neurodevelopmental disorders. British Society of Paediatric Endocrinology and Diabetes (pp A46.1-A46)
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.
- Bone2Gene: Next-generation Phenotyping of Rare Bone Diseases, openRxiv.
- Prediction of compressive strength of vertebral body with metastatic lesions based on quantitative computed tomography-based subject-specific finite element models, openRxiv.
- Assessing the reproducibility of a subject-specific finite element modelling pipeline for the human metastatic vertebrae, Springer Science and Business Media LLC.
- Strong correlation between phantomless and inline phantom-based densitometric calibration of vertebral properties from CT scans of healthy volunteers, openRxiv.
- Detecting placenta accreta spectrum using MRI and explainable deep one-class classification, Elsevier BV.
- Aging reduces strain magnitude and heterogeneity while increasing apparent stiffness of the rat proximal tibia, Elsevier BV.
- Understanding the physiological behaviour of disc cells in an
in vitro
imitation of the healthy and degenerated disc niche, openRxiv.
- Reduced penetrance of
COL1A1/2
pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort, 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.