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Browsing publications by Dr Rhys Thomas.

Newcastle AuthorsTitleYearFull text
Dr David Lewis-Smith
Dr Rhys Thomas
The Human Phenotype Ontology in 2024: phenotypes around the world2024
Dr Rhys Thomas
The role of copy number variants in the genetic architecture of common familial epilepsies2024
Dr Rhys Thomas
What the Top Ten epilepsy research priorities mean for the UK research ecosystem2024
Sarah Gascoigne
Dr Gabrielle Schroeder
Mariella Panagiotopoulou
Dr Jessica Blickwedel
Christoforos Papasavvas
et al.
A library of quantitative markers of seizure severity2023
Kathryn Bush
Dr Emer Cullen
Dr Rhys Thomas
Professor Sheena Ramsay
Assessing the extent and distribution of socioeconomic inequalities in Epilepsy, in the United Kingdom; a systematic evidence review.2023
Professor John Simpson
Dr Jo Elverson
Dr Vicky Ewan
Dr Hilary Tedd
Dr Rhys Thomas
et al.
BTS clinical statement on aspiration pneumonia2023
Jonathan Horsley
Dr Rhys Thomas
Dr Yujiang Wang
Dr Peter Taylor
Complementary structural and functional abnormalities to localise epileptogenic tissue2023
Dr Rhys Thomas
Cost-effectiveness of cenobamate for focal seizures in people with drug-resistant epilepsy2023
Dr David Lewis-Smith
Dr Rhys Thomas
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals2023
Dr Rhys Thomas
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture2023
Dr Rhys Thomas
Rapid switching from levetiracetam to brivaracetam in pharmaco-resistant epilepsy in people with and without intellectual disabilities: a naturalistic case control study2023
Dr Rhys Thomas
SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy2023
Dr Rhys Thomas
Variation in prognosis and treatment outcome in juvenile myoclonic epilepsy: a Biology of Juvenile Myoclonic Epilepsy Consortium proposal for a practical definition and stratified medicine classifications2023
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 Rhys Thomas
A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies2022
Dr Rhys Thomas
Acute seizure risk in patients with encephalitis: development and validation of clinical prediction models from two independent prospective multicentre cohorts2022
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 encephalopathy2022
Dr Rhys Thomas
Association of ultra-rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study2022
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 Rhys Thomas
Correction: Increased volume of cerebral oedema is associated with risk of acute seizure activity and adverse neurological outcomes in encephalitis – regional and volumetric analysis in a multi-centre cohort2022
Dr Chiara Pizzamiglio
Dr Rhys Thomas
Professor Grainne Gorman
Professor Bobby McFarland
Professor Michael Hanna
et al.
COVID-19-Related Outcomes in Primary Mitochondrial Diseases: An International Study2022
Mariella Panagiotopoulou
Christoforos Papasavvas
Dr Gabrielle Schroeder
Dr Rhys Thomas
Dr Peter Taylor
et al.
Fluctuations in EEG band power at subject-specific timescales over minutes to days explain changes in seizure evolutions2022
Dr Yi Ng
Dr Nichola Lax
Dr Alasdair Blain
Dr Daniel Erskine
Professor Mark Baker
et al.
Forecasting stroke-like episodes and outcomes in mitochondrial disease2022
Dr Rhys Thomas
Increased volume of cerebral oedema is associated with risk of acute seizure activity and adverse neurological outcomes in encephalitis – regional and volumetric analysis in a multi-centre cohort2022
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 Rhys Thomas
Catherine Feeney
Research priorities for mitochondrial disorders: Current landscape and patient and professional views2022
Dr Rhys Thomas
Sex-specific disease modifiers in juvenile myoclonic epilepsy2022
Dr Rhys Thomas
Structural network alterations in focal and generalized epilepsy assessed in a worldwide ENIGMA study follow axes of epilepsy risk gene expression2022
Dr Rhys Thomas
The different clinical facets of SYN1-related neurodevelopmental disorders2022
Dr Peter Taylor
Dr Rhys Thomas
The ENIGMA-Epilepsy working group: Mapping disease from large data sets2022
Dr Alice Willison
Dr Rhys Thomas
The neurodevelopmental spectrum seen with CHD2 variants2022
Jonathan Horsley
Dr Gabrielle Schroeder
Dr Rhys Thomas
Dr Yujiang Wang
Dr Peter Taylor
et al.
Volumetric and structural connectivity abnormalities co-localise in TLE2022
Dr Peter Taylor
Dr Rhys Thomas
Artificial intelligence for classification of temporal lobe epilepsy with ROI-level MRI data: A worldwide ENIGMA-Epilepsy study2021
Dr Rhys Thomas
Cerebral venous thrombosis after vaccination against COVID-19 in the UK: a multicentre cohort study2021
Dr David Lewis-Smith
Dr Rhys Thomas
Dr Horn Lai
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy2021
Dr David Lewis-Smith
Dr Rhys Thomas
Dr Horn Lai
Clinical and genetic features in patients with reflex bathing epilepsy2021
Dr Rhys Thomas
Clinicians embracing social media: Potential and pitfalls2021
Dr Rhys Thomas
Considerations for causality assessment of neurological and neuropsychiatric complications of SARS-CoV-2 vaccines: from cerebral venous sinus thrombosis to functional neurological disorder2021
Dr Rhys Thomas
COVID-19 and psychosis risk: Real or delusional concern?2021
Dr Rhys Thomas
COVID-19 Encephalitis with SARS-CoV-2 Detected in Cerebrospinal Fluid Presenting as a Stroke Mimic2021
Dr Rhys Thomas
Expert opinion: use of valproate in girls and women of childbearing potential with epilepsy: recommendations and alternatives based on a review of the literature and clinical experience—a European perspective2021
Dr Rhys Thomas
Invitation to participate in a prospective case–control study of sudden unexpected death in epilepsy2021
Dr Rhys Thomas
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum2021
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 Rhys Thomas
Neurological and Psychiatric Manifestations of COVID-19 in UK Children: A Prospective National Cohort Study2021
Dr Naomi Thomas
Professor Mark Baker
Dr Rhys Thomas
Dr Michael Griffiths
Neurological manifestations of SARS-CoV-2 infection in hospitalised children and adolescents in the UK: a prospective national cohort study2021
Dr Rhys Thomas
Paediatric sudden unexpected death in epilepsy: A parental report cohort2021
Dr Naomi Thomas
Dr Rhys Thomas
Spectrum, Risk Factors, and Outcomes of Neurological and Psychiatric Complications of COVID-19: A UK-Wide Cross-Sectional Surveillance Study2021
Dr Rhys Thomas
Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy2021
Dr Rhys Thomas
Trait impulsivity in Juvenile Myoclonic Epilepsy2021
Dr Rhys Thomas
Trait impulsivity in Juvenile Myoclonic Epilepsy2021
Dr David Lewis-Smith
Dr Rhys Thomas
Ultra-rare Genetic Variants Influence Clinical Features of the Epilepsies.2021
Dr Rhys Thomas
A tiered strategy for investigating status epilepticus2020
Dr Rhys Thomas
Characterising neuropsychiatric disorders in patients with COVID-19 – Authors' reply2020
Professor Mark Baker
Dr Rhys Thomas
Clinical Reasoning: A 25-year old woman with recurrent episodes of collapse and loss of consciousness2020
Dr Rhys Thomas
Defining causality in COVID-19 and neurological disorders2020
Dr David Lewis-Smith
Dr Rhys Thomas
Early-onset genetic epilepsies reaching adult clinics2020
Dr Rhys Thomas
Epilepsy, an orphan disorder within the neurodevelopmental family2020
Dr Rhys Thomas
Generalized, focal, and combined epilepsies in families: New evidence for distinct genetic factors2020
Dr David Lewis-Smith
Dr Naomi Thomas
Dr Rhys Thomas
Molecular genetic management of epilepsy2020
Dr Rhys Thomas
Network-based atrophy modeling in the common epilepsies: A worldwide ENIGMA study2020
Dr Naomi Thomas
Dr Rhys Thomas
Professor Mark Baker
Dr Alan Gemski
Dr Hisham Hamdalla
et al.
Neurological and neuropsychiatric complications of COVID-19 in 153 patients: a UK-wide surveillance study2020
Dr Rhys Thomas
Response to letter to editor: “Knowing when and how to use epilepsy screening questionnaires”2020
Dr Rhys Thomas
Self-driving cars: a qualitative study into the opportunities, challenges and perceived acceptability for people with epilepsy2020
Dr David Lewis-Smith
Dr Rhys Thomas
Semantic similarity analysis reveals robust gene-disease relationships in developmental and epileptic encephalopathies2020
Dr Rhys Thomas
The "maternal effect" on epilepsy risk: analysis of familial epilepsies and reassessment of prior evidence2020
Dr Rhys Thomas
The evidence for switching dibenzazepines in people with epilepsy2020
Dr Albert Lim
Dr Rhys Thomas
The mitochondrial epilepsies2020
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 Rhys Thomas
The view of the clinician and the scientist on the family experience of sudden epilepsy deaths2020
Dr Peter Taylor
Dr Rhys Thomas
White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study2020
Dr Marta Bertoli
Dr Simon Zwolinski
Dr Rhys Thomas
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency2020
Dr Rhys Thomas
Clinical spectrum of STX1B-related epileptic disorders.2019
Dr Rhys Thomas
Epilepsy and seizures in young people with 22q11.2 deletion syndrome: prevalence and links with other neurodevelopmental disorders2019
Dr Rhys Thomas
Epilepsy in families: Age at onset is a familial trait, independent of syndrome2019
Dr Rhys Thomas
Dr Naomi Thomas
Genetic chameleons: Remember the relapsing disorders2019
Dr Rhys Thomas
Hereditary Hyperekplexia Overview2019
Dr Rhys Thomas
Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy2019
Dr Rhys Thomas
Learnings from deaths – the Epilepsy Deaths Register2019
Dr Meher Lad
Dr Rhys Thomas
Dr Kirstie Anderson
Professor Tim Griffiths
Niemann-Pick type C: Contemporary diagnosis and treatment of a classical disorder2019
Dr Rhys Thomas
Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies2019
Dr David Lewis-Smith
Dr Rhys Thomas
The adult phenotypes of paediatric-onset genetic epilepsies2019
Alexander Hagan
Dr David Lewis-Smith
Dr Rhys Thomas
Analysis of pedigree structure on epilepsy families: a global review2018
Dr Rhys Thomas
Mark Cunningham
Cannabis and epilepsy2018
Dr Rhys Thomas
Complement system biomarkers in epilepsy2018
Dr Rhys Thomas
Educational Attainment of Children Born to Mothers with Epilepsy2018
Dr Rhys Thomas
Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.2018
Dr Rhys Thomas
Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study2018
Dr Rhys Thomas
Valproate: life-saving, life-changing2018
Dr Rhys Thomas
Valproate: Life-saving, life-changing2018
Dr Rhys Thomas
Epilepsy treatment priorities: answering the questions that matter2017
Dr Rhys Thomas
Gamification of Medication Adherence in Epilepsy2017
Dr Rhys Thomas
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies2017
Dr Rhys Thomas
New SMARCA2 Mutation in a Patient with Nicolaides–Baraitser Syndrome and Myoclonic Astatic Epilepsy2017
Dr Rhys Thomas
On the road again: assessing driving ability in patients with neurological conditions2017
Dr Douglas Crompton
Dr Rhys Thomas
Phenotypic analysis of 303 multiplex families with common epilepsies2017
Dr Rhys Thomas
Sudden death in epilepsy: Insights from the last 25 years2017
Dr Rhys Thomas
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study2017
Dr Rhys Thomas
Cluster of atypical adult Guillain-Barré syndrome temporally associated with neurological illness due to EV-D68 in children, South Wales, United Kingdom, October 2015 to January 20162016
Dr Rhys Thomas
Cognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank Subjects2016
Dr Rhys Thomas
Editorial: The future of medicine will be dark without international collaboration2016
Dr Rhys Thomas
Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome2016
Dr Rhys Thomas
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy2016
Dr Rhys Thomas
The consequences of valproate exposure in utero2016
Dr Rhys Thomas
What can rare variant genetics tell us about cognition and intellectual difficulties?2016
Dr Rhys Thomas
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures2015
Dr Rhys Thomas
Epilepsy and bipolar disorder2015
Dr Rhys Thomas
Epilepsy and deprivation, a data linkage study2015
Dr Rhys Thomas
Ethnicity can predict GLRA1 genotypes in hyperekplexia2015
Dr Rhys Thomas
Etiology of epilepsy2015
Dr Rhys Thomas
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy2015
Dr Rhys Thomas
Hyperconnectivity in juvenile myoclonic epilepsy: A network analysis2015
Dr Rhys Thomas
Hyperekplexia: overexcitable and underdiagnosed2015
Dr Rhys Thomas
Testing new treatments for paediatric epilepsies2015
Dr Rhys Thomas
A comprehensive neuropsychological description of cognition in drug-refractory juvenile myoclonic epilepsy2014
Dr Rhys Thomas
A Novel GABRG2 mutation, p.R1367*, in a family with GEFS+ and extended phenotypes2014
Dr Rhys Thomas
Concepts and controversies of juvenile myoclonic epilepsy: still an enigmatic epilepsy2014
Dr Rhys Thomas
Epilepsy prevalence and socioeconomic deprivation in England2014
Dr Rhys Thomas
Executive functions and psychiatric symptoms in drug-refractory juvenile myoclonic epilepsy2014
Dr Rhys Thomas
Novel auto-antibody syndromes2014
Dr Rhys Thomas
The hidden genetics of epilepsy - a clinically important new paradigm2014
Dr Rhys Thomas
Trends in the first antiepileptic drug prescribed for epilepsy between 2000 and 20102014