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Browsing publications by Dr David Lewis-Smith.

Newcastle AuthorsTitleYearFull text
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 adulthood2022
Dr David Lewis-Smith
Dr Rhys Thomas
Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery2022
Dr David Lewis-Smith
Genomic analysis of “microphenotypes” in epilepsy2022
Dr Anna Basu
Dr David Lewis-Smith
Dr Rhys Thomas
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood2022
Dr David Lewis-Smith
Dr Stephen Blenkinsop
Professor Hayley Fowler
Climate change and epilepsy: Insights from clinical and basic science studies2021
Dr David Lewis-Smith
Dr Rhys Thomas
Dr Ming Lai
Clinical and genetic features in patients with reflex bathing epilepsy2021
Dr David Lewis-Smith
Dr Rhys Thomas
Dr Ming Lai
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy2021
Dr David Lewis-Smith
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders2021
Dr David Lewis-Smith
Dr Rhys Thomas
Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable2021
Dr David Lewis-Smith
Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data2021
Sebastian Kohler
Dr David Lewis-Smith
The Human Phenotype Ontology in 20212021
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 apraxia2020
Dr David Lewis-Smith
Dr Rhys Thomas
Early-onset genetic epilepsies reaching adult clinics2020
Dr David Lewis-Smith
Dr Naomi Thomas
Dr Rhys Thomas
Molecular genetic management of epilepsy2020
Dr David Lewis-Smith
Dr Rhys Thomas
Semantic similarity analysis reveals robust gene-disease relationships in developmental and epileptic encephalopathies2020
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 epilepsies2019
Dr David Lewis-Smith
The Epilepsiome project: Revising the Human Phenotype Ontology for epilepsy and seizure2019
Dr David Lewis-Smith
When 'seizure' won’t cut the mustard - Explaining the relationship between different seizures to non-specialists and computers for algorithmic interpretation2019
Dr David Lewis-Smith
Dr Rhys Thomas
Analysis of pedigree structure on epilepsy families: a global review2018
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 Encephalopathy2017
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 childhood2016
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 myopathy2016
Dr Boglárka Bánsági
Dr David Lewis-Smith
Dr Jennifer Duff
Dr Helen Griffin
Dr Angela Pyle
et al.
Phenotypic convergence of Menkes and Wilson disease2016
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 neurology2016
James Chapman
Dr David Lewis-Smith
Dr Joseph Guadagno
Dr Duddy Duddy
The Newcastle Experience of Anti-Mog Associated Disease2016
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 accumulation2015
Professor Patrick Chinnery
Dr David Lewis-Smith
Clinical and pathological features associated with mutations in MICU12014