Evaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
Journal article
WILKIE A. et al, (2021), Genetics in Medicine
Increasing LFA-1 Expression Enhances Immune Synapse Architecture and T Cell Receptor Signaling in Jurkat E6.1 Cells
Journal article
Cassioli C. et al, (2021), Frontiers in Cell and Developmental Biology, 9
Lentiviral and AAV-mediated expression of palivizumab offer protection against Respiratory Syncytial Virus infection
Journal article
Habib O. et al, (2021), Scientific Reports
HLA-dependent variation in SARS-CoV-2 CD8+ T cell cross-reactivity with human coronaviruses
Journal article
Buckley PR. et al, (2021)
Reactivation of a developmentally silenced embryonic globin gene.
Journal article
King AJ. et al, (2021), Nat Commun, 12
A biallelic GINS2 variant, p.(Arg114Leu), causes Meier-Gorlin syndrome with craniosynostosis
Journal article
WILKIE A. et al, (2021), Journal of Medical Genetics
Individualised decision-making: interpretation of risk for extremely preterm infants, a survey of UK neonatal professionals
Journal article
Wood K. et al, (2021), Archives of Disease in Childhood
Effects of canagliflozin on human myocardial redox signalling: clinical implications
Journal article
Kondo H. et al, (2021), European Heart Journal
Proteomic Signature of Dysfunctional Circulating Endothelial Colony‐Forming Cells of Young Adults
Journal article
Tan CMJ. et al, (2021), Journal of the American Heart Association
Noninvasive assessment of steatosis and viability of cold-stored human liver grafts by MRI.
Journal article
Young LAJ. et al, (2021), Magn Reson Med
Left Ventricular Diastolic Function Studied with Magnetic Resonance Imaging: A Systematic Review of Techniques and Relation to Established Measures of Diastolic Function
Journal article
Bojer AS. et al, (2021), Diagnostics, 11, 1282 - 1282
Emergency departments are higher-risk locations for wrong blood in tube errors.
Journal article
Dunbar NM. et al, (2021), Transfusion
Expected individual benefit of prophylactic platelet transfusions in hemato-oncology patients based on bleeding risks.
Journal article
Cornelissen LL. et al, (2021), Transfusion
Hearing, Speech, Language and Communicative Participation in Patients with Apert Syndrome: analysis of correlation with FGFR2 mutation
Journal article
WILKIE A. et al, (2021), Journal of Craniofacial Surgery
Prolyl-4-hydroxylase 3 maintains β-cell glucose metabolism during fatty acid excess in mice.
Journal article
Nasteska D. et al, (2021), JCI Insight
Energetic basis for exercise-induced pulmonary congestion in heart failure with preserved ejection fraction
Journal article
BURRAGE M. et al, (2021), Circulation
International Forum on Policies and Practice for Transfusion of ABO and RhD Non‐Identical Platelets: Summary
Journal article
Cardigan R. et al, (2021), Vox Sanguinis
Unbiased Signal Equation for Quantitative Magnetization Transfer Mapping in Balanced Steady-State Free Precession MRI
Journal article
JEZZARD P. et al, (2021), Magnetic Resonance in Medicine
Antibody responses to SARS-CoV-2 vaccines in 45,965 adults from the general population of the United Kingdom
Journal article
Wei J. et al, (2021), Nature Microbiology
Dietary carbohydrates and fats in nonalcoholic fatty liver disease
Journal article
Yki-Järvinen H. et al, (2021), Nature Reviews Gastroenterology & Hepatology