Joseph D. Symonds

Royal Hospital for Children — United Kingdom

Medicine · Health Sciences

26h-index3.3kcitations65works5.42yr avg
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Research Topics

Epilepsy research and treatment(22), Genomics and Rare Diseases(18), Genetics and Neurodevelopmental Disorders(18), Ion channel regulation and function(10), Genomic variations and chromosomal abnormalities(6)

Publications65 total

What is the psychological impact on parents of learning about SUDEP? A mixed methods systematic review
Epilepsy & Behavior·2026Open Access
Artificial intelligence and genomics in paediatric neurology: Promise, pitfalls, and the importance of clinical judgement
Developmental Medicine & Child Neurology·2025Open Access
<i>SCN9A</i> should not be considered an epilepsy gene; Refuting a gene–disease association
Epilepsia·2025· 2 citedOpen Access
Novel biallelic <i>NUP107</i> variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations
Journal of Medical Genetics·2025· 1 citedOpen Access
<scp><i>SCN1A</i></scp> pathogenic variants do not have a distinctive blood‐derived <scp>DNA</scp> methylation signature
Epilepsia·2025· 2 citedOpen Access
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome
The American Journal of Human Genetics·2025· 4 citedOpen Access
Trauma, coping, and adjustment when parenting a child with Dravet syndrome
European Journal of Paediatric Neurology·2025· 5 citedOpen Access
Nabilone for the treatment of gastrointestinal dystonia for children and young people with severe neurodisabilities: a single-centre case series
Frontline Gastroenterology·2024· 1 cited
&lt;i&gt;SCN2A&lt;/i&gt;-Related Disorders
Cambridge University Press eBooks·2024Open Access
Caregiver burden and therapeutic needs in Dravet syndrome - A national UK cross-sectional questionnaire study
European Journal of Paediatric Neurology·2024· 7 citedOpen Access
<i>POLR3B</i> is associated with a developmental and epileptic encephalopathy with myoclonic‐atonic seizures and ataxia
Epilepsia·2024· 10 citedOpen Access
Type 1 diabetes and glut1 transporter deficiency syndrome: a case report
Endocrine Abstracts·2024
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep <scp>(D/EE‐SWAS</scp>)
Annals of Neurology·2024· 15 citedOpen Access
Genotype–phenotype associations in 1018 individuals with <i>SCN1A</i>‐related epilepsies
Epilepsia·2024· 29 citedOpen Access
Long-term predictors of developmental outcome and disease burden in <i>SCN1A</i>-positive Dravet syndrome
Brain Communications·2023· 13 citedOpen Access
606 Rates, causes and predictors of mortality and avoidable mortality in children and young people with and without intellectual disabilities
2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
The American Journal of Human Genetics·2023· 15 citedOpen Access
Comorbidities and predictors of health‐related quality of life in Dravet syndrome: A 10‐year, prospective follow‐up study
Epilepsia·2023· 24 citedOpen Access
Rates, causes and predictors of all-cause and avoidable mortality in 163 686 children and young people with and without intellectual disabilities: a record linkage national cohort study
BMJ Open·2022· 15 citedOpen Access
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes
Brain·2022· 25 citedOpen Access
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Frequent Co-authors

Sameer M. Zuberi(29), Andreas Brunklaus(21), Dennis Lal(10), Liam Dorris(9), Eduardo Pérez‐Palma(9), Ingrid E. Scheffer(9), Rikke S. Møller(8), Stewart Macleod(5), Lynette G. Sadleir(5), Stéphanie Schorge(5), Ismael Ghanty(5), Amy Schneider(5), Ailsa McLellan(4), Mary O’Regan(4), Shelagh Joss(4), Ioana Cutcutache(4), Amy McTague(4), Tobias Brünger(4), Tony Feng(4), Bertrand Isidor(4)