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 |
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