Publications by authors named "Mark I Rees"

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Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.
Stephanie Efthymiou, Cailyn P Leo, Chenghong Deng, Sheng-Jia Lin, Reza Maroofian, Mark I Rees

Am J Hum Genet· May 2025

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Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Siwei Chen, Bassel W Abou-Khalil, Zaid Afawi, Quratulain Zulfiqar Ali, Elisabetta Amadori, Mark I Rees

medRxiv· September 2024

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Genetic influences on epilepsy outcomes: A whole-exome sequencing and health care records data linkage study.
Beata Fonferko-Shadrach, Arron S Lacey, Huw Strafford, Carys Jones, Mark Baker, Mark I Rees

Epilepsia· November 2023

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Development of a novel and more holistic approach for assessing impact in health and medical research: the Research Impact Assessment Framework.
Robyn L Ward, Don Nutbeam, Wilfred Mijnhardt, Philip Nelson, Angela Todd, Mark I Rees

Aust Health Rev· October 2023

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Complement activation and increased anaphylatoxin receptor expression are associated with cortical grey matter lesions and the compartmentalised inflammatory response of multiple sclerosis.
Rhian Evans, Lewis M Watkins, Kristen Hawkins, Gabriella Santiago, Constantinos Demetriou, Mark I Rees

Front Cell Neurosci· March 2023

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A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure.
Bronwyn E Grinton, Erandee Robertson, Liam G Fearnley, Ingrid E Scheffer, Anthony G Marson, Mark I Rees

Am J Hum Genet· November 2022

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Sex-specific disease modifiers in juvenile myoclonic epilepsy.
Amy Shakeshaft, Naim Panjwani, Amber Collingwood, Holly Crudgington, Anna Hall, Mark I Rees

Sci Rep· February 2022

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Epilepsy mortality in Wales during COVID-19.
Helen Daniels, Arron S Lacey, David Mikadze, Ashley Akbari, Beata Fonferko-Shadrach, Mark I Rees

Seizure· January 2022

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Epilepsy, antiepileptic drugs, and the risk of major cardiovascular events.
Elinor Lee-Lane, Fatemeh Torabi, Arron Lacey, Beata Fonferko-Shadrach, Daniel Harris, Mark I Rees

Epilepsia· July 2021

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Incidence, Prevalence, and Health Care Outcomes in Idiopathic Intracranial Hypertension: A Population Study.
Latif Miah, Huw Strafford, Beata Fonferko-Shadrach, Joe Hollinghurst, Inder M S Sawhney, Mark I Rees

Neurology· February 2021

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Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
Andrew E Fry, Christopher Marra, Anna V Derrick, William O Pickrell, Adam T Higgins, Mark I Rees

Am J Hum Genet· January 2021

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Trait impulsivity in Juvenile Myoclonic Epilepsy.
Amy Shakeshaft, Naim Panjwani, Robert McDowall, Holly Crudgington, Javier Peña Ceballos, Mark I Rees

Ann Clin Transl Neurol· January 2021

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Long-term outcomes after epilepsy surgery, a retrospective cohort study linking patient-reported outcomes and routine healthcare data.
Bengi Kansu, William O Pickrell, Arron S Lacey, Ffion Edwards, Georgiana Samolia, Mark I Rees

Epilepsy Behav· October 2020

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Using natural language processing to extract structured epilepsy data from unstructured clinic letters: development and validation of the ExECT (extraction of epilepsy clinical text) system.
Beata Fonferko-Shadrach, Arron S Lacey, Angus Roberts, Ashley Akbari, Simon Thompson, Mark I Rees

BMJ Open· April 2019

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Development of a cardiac inherited disease service and clinical registry: A 15-year perspective.
Nikki J Earle, Jackie Crawford, Ian Hayes, Mark I Rees, John French

Am Heart J· March 2019

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Clinical spectrum of -related epileptic disorders.
Stefan Wolking, Patrick May, Davide Mei, Rikke S Møller, Simona Balestrini, Mark I Rees

Neurology· March 2019

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Tubulin genes and malformations of cortical development.
Romina Romaniello, Filippo Arrigoni, Andrew E Fry, Maria T Bassi, Mark I Rees

Eur J Med Genet· December 2018

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Meningeal inflammation and cortical demyelination in acute multiple sclerosis.
Ryan J Bevan, Rhian Evans, Lauren Griffiths, Lewis M Watkins, Mark I Rees

Ann Neurol· December 2018

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Educational attainment of children born to mothers with epilepsy.
Arron S Lacey, William Owen Pickrell, Rhys H Thomas, Mike P Kerr, Cathy P White, Mark I Rees

J Neurol Neurosurg Psychiatry· July 2018

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Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus.
Shira Sagie, Tally Lerman-Sagie, Snezana Maljevic, Keren Yosovich, Katja Detert, Mark I Rees

Brain· July 2018

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The phenotype of bilateral hippocampal sclerosis and its management in "real life" clinical settings.
Arjune Sen, Patricia Dugan, Piero Perucca, Daniel Costello, Hyunmi Choi, Mark I Rees

Epilepsia· July 2018

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Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.
Juliette Piard, George K Essien Umanah, Frederike L Harms, Leire Abalde-Atristain, Daniel Amram, Mark I Rees

Brain· June 2018

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De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Andrew E Fry, Katherine A Fawcett, Nathanel Zelnik, Hongjie Yuan, Belinda A N Thompson, Mark I Rees

Brain· March 2018

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A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.
Juliette Piard, George K Essien Umanah, Frederike L Harms, Leire Abalde-Atristain, Daniel Amram, Mark I Rees

Brain· March 2018

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Validating epilepsy diagnoses in routinely collected data.
Beata Fonferko-Shadrach, Arron S Lacey, Catharine P White, H W Rob Powell, Inder M S Sawhney, Mark I Rees

Seizure· November 2017

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