M. J. Welland
A5027497046- Nuclear Materials and Properties
- Nuclear reactor physics and engineering
- High Temperature Alloys and Creep
- Solidification and crystal growth phenomena
- Radioactive element chemistry and processing
- Aluminum Alloy Microstructure Properties
- Fusion materials and technologies
- nanoparticles nucleation surface interactions
- Advancements in Battery Materials
- Single-cell and spatial transcriptomics
- Advanced X-ray Imaging Techniques
- Cancer Genomics and Diagnostics
- Advanced Electron Microscopy Techniques and Applications
- CRISPR and Genetic Engineering
- Microstructure and mechanical properties
- Metabolism and Genetic Disorders
- Genomic variations and chromosomal abnormalities
- Epigenetics and DNA Methylation
- Advanced Battery Materials and Technologies
- Thermodynamic and Structural Properties of Metals and Alloys
- Pickering emulsions and particle stabilization
- Thermography and Photoacoustic Techniques
- Advanced Semiconductor Detectors and Materials
- Thermal and Kinetic Analysis
- Nuclear Physics and Applications
Genomics England
2020-2025
Canadian Nuclear Laboratories
2017-2024
University of Manchester
2023
Genomics (United Kingdom)
2023
St Mary's Hospital
2023
Manchester University NHS Foundation Trust
2023
Joint Research Centre
2012-2018
Argonne National Laboratory
2014-2017
Royal Military College of Canada
2008-2011
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative disease, usually caused by biallelic AAGGG repeat expansions in RFC1. In this study, we leveraged whole genome sequencing data from nearly 10 000 individuals recruited within the Genomics England project to investigate normal pathogenic variation of RFC1 repeat. We identified three novel motifs, AGGGC (n = 6 five families), AAGGC 2 one family) AGAGG 1), associated with CANVAS...
Abstract Phase transitions in reactive environments are crucially important energy and information storage, catalysis sensors. Nanostructuring active particles can yield faster charging/discharging kinetics, increased lifespan record catalytic activities. However, establishing the causal link between structure function is challenging for nanoparticles, as ensemble measurements convolve intrinsic single-particle properties with sample diversity. Here we study hydriding phase transformation...
Extrachromosomal DNA (ecDNA) is a major contributor to treatment resistance and poor outcome for patients with cancer
Recently, novel container-less laser heating experimental data have been published on the melting behaviour of pure PuO2 and PuO2-rich compositions in uranium dioxide–plutonium dioxide system. Such showed that previous obtained by more traditional furnace techniques were affected extensive interaction between sample its containment. It is therefore paramount to check whether so far used nuclear engineers for uranium-rich side pseudo-binary system can be confirmed or not. In present work, new...
Alport syndrome is the commonest inherited kidney disease and nearly half pathogenic variants in COL4A3-COL4A5 genes that cause result Gly substitutions. This study examined molecular characteristics of substitutions determine severity clinical features. Pathogenic COL4A5 affecting Leiden Open Variation Database males with X-linked were correlated age at failure (n = 157) hearing loss diagnosis 80). Heterozygous COL4A3 COL4A4 304) autosomal dominant risk haematuria UK 100,000 Genomes...
We study the mesoscopic effects which modify phase-segregation in LixFePO4 nanoparticles using a multiphysics phase-field model implement on high performance cluster. simulate 3D spherical particles of radii from 3 to 40 nm and examine equilibrium microstructure voltage profiles as they depend size overall lithiation. The includes anisotropic, concentration-dependent elastic moduli, misfit strain, facet dependent surface wetting within Cahn–Hilliard formulation. find that miscibility gap...
Genome sequencing was first offered clinically in the UK through 100,000 Genomes Project (100KGP). Analysis restricted to predefined gene panels associated with patient's phenotype. However, rely on clearly characterised phenotypes and risk missing diagnoses outside of panel(s) applied. We propose a complementary method rapidly identify pathogenic variants, including those missed by 100KGP methods.
Modern Li–ion batteries with LiFePO4 cathodes have been shown to be low cost, non-toxic, a high theoretical capacity, and (dis)charging rates. Although has advantageous properties for electrical energy storage, it can lose some of its charging capacity when cycled. Researchers found cracks that develop in cathode particles during cycling, suggested this is the main cause loss. The work presented here develops multi-physics computational model investigate possible causes fracture single...
An atomistically informed mesoscale model is developed for the deposition of a discharge product in Li-O2 battery. This mescocale includes particle growth and coarsening as well simplified nucleation model. The involves LiO2 formation through reaction O2− Li+ electrolyte, which deposits on cathode surface when concentration reaches supersaturation electrolyte. A reaction-diffusion (rate-equation) used to describe processes occurring electrolyte phase-field capture microstructural evolution....
This work revisits the melting behaviour of neptunium dioxide, an actinide compound which can be produced in nuclear fuel during operation, and has important impact on waste radioactivity especially very long term. The present experimental approach employs remote laser heating under controlled atmosphere fast pyrometry. technique circumvents problems encountered by more traditional techniques, particular, reaction between sample containment at temperatures beyond 2500 K. In addition, only a...
TSPEAR variants cause autosomal recessive ectodermal dysplasia (ARED) 14. The function of is unknown. clinical features, the mutation spectrum, and underlying mechanisms ARED14 are poorly understood. Combining data from new previously published individuals established that primarily characterized by dental anomalies such as conical tooth cusps hypodontia, like those seen in with WNT10A-related odontoonychodermal dysplasia. AlphaFold-predicted structure-based analysis showed most pathogenic...
This article describes a phase-field model for an isothermal multicomponent, multiphase system which avoids implicit interfacial energy contributions by starting from grand potential formulation. A method is developed incorporating arbitrary forms of the equilibrium thermodynamic potentials in all phases to determine explicit relationship between chemical and species concentrations. The incorporates variable densities adjacent phases, defect migration, dependence internal pressure on object...
We develop a multicomponent phase-field model specially formulated to robustly simulate concentration variations from molar atomic magnitudes across an interface, i.e., partition coefficients in excess of ${10}^{\ifmmode\pm\else\textpm\fi{}23}$ such as may be the case with species which are predominant one phase and insoluble other. Substitutional interdiffusion on normal lattice concurrent interstitial diffusion included. The composition interface follows approach Kim, Suzuki [Phys. Rev. E...