output
20162025
most citedKMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

119 citations

7 papers

q-bio.NC2025★ 119 cited

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

L Cif, D Demailly, JP Lin +112

Heterozygous mutations in KMT2B are associated with an early-onset, progressive, and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor feat…

eess.IV2019★ 3 cited

Signed Laplacian Deep Learning with Adversarial Augmentation for Improved Mammography Diagnosis

Heyi Li, Dongdong Chen, William H. Nailon +2

Computer-aided breast cancer diagnosis in mammography is limited by inadequate data and the similarity between benign and cancerous masses. To address this, we propose a signed gra…

physics.med-ph2018★ 7 cited

Quantitative cone-beam CT reconstruction with polyenergetic scatter model fusion

Jonathan H. Mason, Alessandro Perelli, William H. Nailon +1

Scatter can account for large errors in cone-beam CT (CBCT) due to its wide field of view, and its complicated nature makes its compensation difficult. Iterative polyenergetic reco…

physics.med-ph2017★ 10 cited

Polyquant CT: direct electron and mass density reconstruction from a single polyenergetic source

Jonathan H. Mason, Alessandro Perelli, William H. Nailon +1

Quantifying material mass and electron density from computed tomography (CT) reconstructions can be highly valuable in certain medical practices, such as radiation therapy planning…

q-bio.QM2017★ 1 cited

A multi-stage representation of cell proliferation as a Markov process

Christian A Yates, Matthew J Ford, Richard L Mort

The stochastic simulation algorithm commonly known as Gillespie's algorithm is now used ubiquitously in the modelling of biological processes in which stochastic effects play an im…

physics.med-ph2017★ 2 cited

Can Planning Images Reduce Scatter in Follow-Up Cone-Beam CT?

Jonathan Mason, Alessandro Perelli, William Nailon +1

Due to its wide field of view, cone-beam computed tomography (CBCT) is plagued by large amounts of scatter, where attenuated photons hit the detector, and corrupt the linear models…

cond-mat.soft2016★ 24 cited

A Single Nucleotide Resolution Model for Large-Scale Simulations of Double Stranded DNA

Y. A. G. Fosado, D. Michieletto, J. Allan +3

The computational modelling of DNA is becoming crucial in light of new advances in DNA nanotechnology, single-molecule experiments and in vivo DNA tampering. Here we present a meso…