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Publications

Saturation genome editing ofRNU4-2reveals distinct dominant and recessive neurodevelopmental disorders

De Jonghe J. et al, (2025)

Analysis-ready VCF at Biobank scale using Zarr

KELLEHER J. and JEFFERY B., (2025), GigaScience

Predictive performance of wearable sensors for mortality risk in older adults: a model development and validation study

Harper C. et al, (2025)

Perceptions about chronic health conditions, multimorbidity and self-management practices in rural northeast South Africa: findings from a qualitative study.

Dube A. et al, (2025), BMJ Open, 15

Call for a fairer approach to authorship in publishing biomedical research.

Cheah PY. and Parker M., (2025), Communications medicine, 5

Genetically distinct within-host subpopulations of hepatitis C virus persist after Direct-Acting Antiviral treatment failure.

Zhao L. et al, (2025), PLoS pathogens, 21

Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.

Venkatesh SS. et al, (2025), Nature genetics

Health-economic impacts of age- and sex-targeted Lassa fever vaccination in endemic regions of Nigeria, Guinea, Liberia and Sierra Leone: a modelling study

Smith DRM. et al, (2025)

Prospective evaluation of 92 protein biomarkers for early detection of endometrial cancer.

Cooley V. et al, (2025), International journal of cancer

Reticulin-Free Quantitation of Bone Marrow Fibrosis in MPNs: Utility and Applications.

Ryou H. et al, (2025), EJHaem, 6

The role of the enrolling clinician in emergency research conducted under an exception from informed consent.

Sahan K. et al, (2025), Theoretical medicine and bioethics

The value of large-scale programmes in human genomics.

Horn R. et al, (2025), European journal of human genetics : EJHG

Accessible, realistic genome simulation with selection using stdpopsim.

Gower G. et al, (2025), bioRxiv

The Rare Therapies Launchpad: a pilot program for individualized medicines in the UK

O’Connor DJ. et al, (2025), Nature Medicine

Mutations in the Bone Morphogenetic Protein signaling pathway sensitize zebrafish and humans to ethanol-induced jaw malformations.

Klem JR. et al, (2025), Dis Model Mech

Pandemic-risk-related behaviour change in England from June 2020 to March 2022: REACT-1 study among over 2 million people

Steyn N. et al, (2025)

Evidence for Transient, Uncoupled Power and Functional Connectivity Dynamics

HUANG R. et al, (2025), Human Brain Mapping

Altered Hormone and Bioactive Lipid Plasma Profile in Rodent Models of Polycystic Ovarian Syndrome Revealed by Targeted Mass Spectrometry

Scott HC. et al, (2025), Journal of Endocrinology and Metabolism, 15, 1 - 14

Amount and intensity of daily total physical activity, step count and risk of incident cancer in the UK Biobank.

Shreves AH. et al, (2025), British journal of sports medicine

Assessing the impact of COmorbidities and Sociodemographic factors on Multiorgan Injury following COVID-19: rationale and protocol design of COSMIC, a UK multicentre observational study of COVID-negative controls.

Shergill S. et al, (2025), BMJ open, 15

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