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Browsing publications by
Dr David Lewis-Smith.
Newcastle Authors
Title
Year
Full text
Dr David Lewis-Smith
Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals
2024
Dr David Lewis-Smith
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
2024
Dr David Lewis-Smith
Dr Rhys Thomas
The Human Phenotype Ontology in 2024: phenotypes around the world
2024
Dr Faye McLeod
Anna Dimtsi
Amy Marshall
Dr David Lewis-Smith
Dr Rhys Thomas
et al.
Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy
2023
Dr David Lewis-Smith
Enriching representation learning using 53 million patient notes through human phenotype ontology embedding
2023
Dr David Lewis-Smith
Dr Rhys Thomas
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
2023
Dr David Lewis-Smith
The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease
2023
Dr Rhys Thomas
Dr David Lewis-Smith
A review of the clinical spectrum of
BRAT1
disorders with addition of a developmental and epileptic encephalopathy with survival to adulthood
2022
Dr David Lewis-Smith
Dr Stephan Jaiser
Dr Rhys Thomas
Autoimmune musicogenic bilateral temporal lobe epilepsy
2022
Dr David Lewis-Smith
Dr Rhys Thomas
Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery
2022
Dr David Lewis-Smith
Genomic analysis of “microphenotypes” in epilepsy
2022
Dr David Lewis-Smith
Amy Winder
Professor Mark Baker
Dr Rhys Thomas
Late-onset cluster seizures and intellectual disability associated with a novel truncation variant in SMC1A
2022
Dr Anna Basu
Dr David Lewis-Smith
Dr Rhys Thomas
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
2022
Dr David Lewis-Smith
Dr Stephen Blenkinsop
Professor Hayley Fowler
Climate change and epilepsy: Insights from clinical and basic science studies
2021
Dr David Lewis-Smith
Dr Rhys Thomas
Dr Horn Lai
Clinical and genetic features in patients with reflex bathing epilepsy
2021
Dr David Lewis-Smith
Dr Rhys Thomas
Dr Horn Lai
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy
2021
Dr David Lewis-Smith
Computational analysis of 10,860 phenotypic annotations in individuals with
SCN2A
-related disorders
2021
Dr David Lewis-Smith
Dr Rhys Thomas
Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable
2021
Dr David Lewis-Smith
Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data
2021
Sebastian Kohler
Dr David Lewis-Smith
The Human Phenotype Ontology in 2021
2021
Dr David Lewis-Smith
Dr Rhys Thomas
Ultra-rare Genetic Variants Influence Clinical Features of the Epilepsies.
2021
Dr David Lewis-Smith
Alien limb in the corticobasal syndrome: phenomenological characteristics and relationship to apraxia
2020
Dr David Lewis-Smith
Dr Rhys Thomas
Early-onset genetic epilepsies reaching adult clinics
2020
Dr David Lewis-Smith
Dr Naomi Thomas
Dr Rhys Thomas
Molecular genetic management of epilepsy
2020
Dr David Lewis-Smith
Dr Rhys Thomas
Semantic similarity analysis reveals robust gene-disease relationships in developmental and epileptic encephalopathies
2020
Dr David Lewis-Smith
Dr Rhys Thomas
The prevalence of genetically diagnosable epilepsies in young adulthood: How many should we be looking for?
2020
Dr David Lewis-Smith
Dr Rhys Thomas
The adult phenotypes of paediatric-onset genetic epilepsies
2019
Dr David Lewis-Smith
The Epilepsiome project: Revising the Human Phenotype Ontology for epilepsy and seizure
2019
Dr David Lewis-Smith
When 'seizure' won’t cut the mustard - Explaining the relationship between different seizures to non-specialists and computers for algorithmic interpretation
2019
Alex Hagan
Dr David Lewis-Smith
Dr Rhys Thomas
Analysis of pedigree structure on epilepsy families: a global review
2018
Dr David Lewis-Smith
Dr Vankateswara Ramesh
Professor Patrick Chinnery
Dr Anna Basu
Biotin-Thiamine-Responsive Basal Ganglia Disease: A Rare But Treatable Cause Of Severe Necrotising Encephalopathy
2017
Dr David Lewis-Smith
Dr Helen Griffin
Dr Jennifer Duff
Dr Angela Pyle
Professor Robert Taylor
et al.
Homozygous deletion in
MICU1
presenting with fatigue and lethargy in childhood
2016
Dr David Lewis-Smith
Dr Jennifer Duff
Dr Angela Pyle
Dr Helen Griffin
Dr Tuomo Polvikoski
et al.
Novel
HSPB1
mutation causes both motor neuronopathy and distal myopathy
2016
Dr Boglárka Bánsági
Dr David Lewis-Smith
Dr Jennifer Duff
Dr Helen Griffin
Dr Angela Pyle
et al.
Phenotypic convergence of Menkes and Wilson disease
2016
Dr David Lewis-Smith
Dr Anna Basu
Dr Vankateswara Ramesh
Professor Patrick Chinnery
Repeated dramatic reversal of thiamine-responsive necrotising encephalopathy due to SLC19A3 mutations emphasises the importance of considering vitamin-responsive pathologies in acute neurology
2016
James Chapman
Dr David Lewis-Smith
Dr Joseph Guadagno
Dr Duddy Duddy
The Newcastle Experience of Anti-Mog Associated Disease
2016
Professor Rita Horvath
Dr David Lewis-Smith
Dr Konstantinos Douroudis
Dr Jennifer Duff
Dr Michael Keogh
et al.
SCP2
mutations and neurodegeneration with brain iron accumulation
2015
Professor Patrick Chinnery
Dr David Lewis-Smith
Clinical and pathological features associated with mutations in MICU1
2014