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Browsing publications by Dr David Lewis-Smith

Newcastle AuthorsTitleYearFull text
Dr David Lewis-Smith
Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals2024
Dr David Lewis-Smith
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes2024
Dr David Lewis-Smith
Dr Rhys Thomas
The Human Phenotype Ontology in 2024: phenotypes around the world2024
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 encephalopathy2023
Dr David Lewis-Smith
Enriching representation learning using 53 million patient notes through human phenotype ontology embedding2023
Dr David Lewis-Smith
Dr Rhys Thomas
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals2023
Dr David Lewis-Smith
The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease2023
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 Stephan Jaiser
Dr Rhys Thomas
Autoimmune musicogenic bilateral temporal lobe epilepsy2022
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 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 SMC1A2022
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 Horn Lai
Clinical and genetic features in patients with reflex bathing epilepsy2021
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