List of works by Rhys H Thomas

'Reverse' scarf osteotomy for bunionette correction: Initial results of a new surgical technique

scientific article published on 13 April 2011

A comparative study of bone shortening and bone loss with use of saw blades versus burr in hallux valgus surgery

scientific article published on 15 December 2011

A comprehensive neuropsychological description of cognition in drug-refractory juvenile myoclonic epilepsy

scientific article published on 2 June 2014

A neurological presentation of intravascular B-cell lymphoma

scientific article

A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

scientific article

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2

scientific article

A tiered strategy for investigating status epilepticus

scientific article published on 22 October 2019

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

scientific article

Cannabis and epilepsy

scientific article published on 18 October 2018

Careers advice: paper is essential reading for the tall and beautiful

scientific article published in January 2007

Clinical Reasoning: A 25-year-old woman with recurrent episodes of collapse and loss of consciousness

scientific article published on 01 May 2020

Clinical spectrum of STX1B-related epileptic disorders.

scientific article published on 8 February 2019

Clinicians embracing social media: Potential and pitfalls

scientific article published on 12 November 2019

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 2016.

scientific article

Cognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank Subjects

scientific article

Complement system biomarkers in epilepsy

scientific article published on 24 May 2018

Concepts and controversies of juvenile myoclonic epilepsy: still an enigmatic epilepsy

scientific article

Defining causality in COVID-19 and neurological disorders

scientific article published on 05 June 2020

Dental injury during seizures associated with juvenile myoclonic epilepsy

scientific article

Dot-to-dot

scientific article published in October 2008

Early-onset genetic epilepsies reaching adult clinics

scientific article published on 01 March 2020

Educational attainment of children born to mothers with epilepsy

scientific article published on 27 March 2018

Encephalitis guidelines: a recipe for success?

scientific article published in June 2009

Epilepsy and bipolar disorder

scientific article published on 24 August 2015

Epilepsy and deprivation, a data linkage study

scientific article

Epilepsy and seizures in young people with 22q11.2 deletion syndrome: Prevalence and links with other neurodevelopmental disorders

scientific article published on 11 April 2019

Epilepsy is different

scientific article published on 01 April 2011

Epilepsy prevalence and socioeconomic deprivation in England

scientific article published on 2 September 2014

Epilepsy treatment priorities: answering the questions that matter.

scientific article published in June 2017

Epilepsy: creative sparks

scientific article published in August 2010

Ethnicity can predict GLRA1 genotypes in hyperekplexia.

scientific article

Etiology of Epilepsy

scientific article published on 10 June 2015

Executive functions and psychiatric symptoms in drug-refractory juvenile myoclonic epilepsy

scientific article

GLRB is the third major gene of effect in hyperekplexia.

scientific article published on 25 November 2012

Gamification of Medication Adherence in Epilepsy

scientific article published on 14 September 2017

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome

scientific article published on 24 August 2016

Genetic chameleons: remember the relapsing disorders

scientific article published on 04 April 2019

Genetic epilepsy with febrile seizures plus: definite and borderline phenotypes

scientific article published on 06 December 2011

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

scientific article

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay

scientific article

Hereditary Hyperekplexia Overview

scientific article published on 19 December 2019

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

scientific article published in November 2017

Hyperconnectivity in juvenile myoclonic epilepsy: a network analysis

scientific article

Hyperekplexia: overexcitable and underdiagnosed

scientific article published on 19 November 2014

Implications for families of advances in understanding the genetic basis of epilepsy

scientific article

Impulsive and episodic disorders of aggressive behaviour following traumatic brain injury

scientific article published on January 2013

Is overnight tube feeding associated with hypoxia in stroke?

scientific article published on 01 September 2006

Juvenile myoclonic epilepsy

Learnings from deaths - the Epilepsy Deaths Register

scientific article published on 17 August 2019

Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable

scientific article published on 05 May 2021

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease

scientific article

Neurologic phenotypes associated with / mutations: Expanding the spectrum of disease

scientific article published on 09 November 2018

Neurological and neuropsychiatric complications of COVID-19 in 153 patients: a UK-wide surveillance study

scientific article published on 25 June 2020

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

scientific article published on 09 October 2013

Next generation sequencing in the clinical domain: clinical advantages, practical, and ethical challenges

scientific article published on January 2012

Niemann-Pick type C: contemporary diagnosis and treatment of a classical disorder

scientific article published on 26 June 2019

Novel auto-antibody syndromes

scientific article published on 01 October 2014

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

scientific article published on 10 December 2012

On the road again: assessing driving ability in patients with neurological conditions.

scientific article published on 4 May 2017

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

scientific article published on July 2010

Response to letter to editor: "Knowing when and how to use epilepsy screening questionnaires"

scientific article published on 02 March 2020

Reversible grasp reflexes in normal pressure hydrocephalus.

scientific article published on 30 December 2008

Self-driving cars: a qualitative study into the opportunities, challenges and perceived acceptability for people with epilepsy

scientific article published on 26 March 2020

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

scientific article published on 20 August 2020

Sleepwalking and Sleep Paralysis: Prevalence in Colombian Families With Genetic Generalized Epilepsy

scientific article published on 23 April 2019

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.

scientific article published on 22 January 2018

Sudden death in epilepsy: Insights from the last 25 years.

scientific article

Testing new treatments for paediatric epilepsies

scientific article published on 01 August 2015

The Human Phenotype Ontology in 2024: phenotypes around the world

scientific article published in 2023

The consequences of valproate exposure in utero

scientific article published on 26 August 2016

The dark night

scientific article published in October 2010

The future of medicine will be dark without international collaboration [corrected]

scientific article published on 21 July 2016

The glycinergic system in human startle disease: a genetic screening approach

scientific article

The hidden genetics of epilepsy-a clinically important new paradigm

scientific article

The importance of the experiences of initial diagnosis and treatment failure when switching antiepileptic drugs

scientific article published on 2 October 2013

The mitochondrial epilepsies

scientific article published on 07 January 2020

The prevalence of genetically diagnosable epilepsies in young adulthood: How many should we be looking for?

scientific article published on 12 August 2020

The view of the clinician and the scientist on the family experience of sudden epilepsy deaths

scientific article published on 09 December 2019

Trait impulsivity in Juvenile Myoclonic Epilepsy

scientific article published on 02 December 2020

Translation of genetic findings to clinical practice in juvenile myoclonic epilepsy.

scientific article published on 23 October 2012

Trends in the first antiepileptic drug prescribed for epilepsy between 2000 and 2010.

scientific article published on 19 September 2013

Valproate: life-saving, life-changing

scientific article published on 01 April 2018

Weight change associated with antiepileptic drugs

scientific article

What can rare variant genetics tell us about cognition and intellectual difficulties?

scientific article published on 7 November 2016

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