Publications by Dr David Lewis-Smith - ePrints

Browsing publications by Dr David Lewis-Smith.

Newcastle Authors	Title	Year
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