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G. Vassallo · SciRah

Researcher profile · Semantic Scholar

G. Vassallo

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G. Vassallo — researcher profile on SciRah

h-index: 22
Works: 62
Citations: 3,465

Most-cited papers

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
G. Rice, Paul R. Kasher, G. Forte, Niamh M. Mannion +50 more
2012Nature Genetics880 citations Open access
Semantic Scholar
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Y. Crow, D. Chase, Johanna L. Schmidt, M. Szynkiewicz +132 more
2015American Journal of Medical Genetics. Part A562 citations Open access
Semantic Scholar
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
G. Rice, G. Forte, M. Szynkiewicz, D. Chase +52 more
2013Lancet Neurology423 citations Open access
Semantic Scholar
Use of whole exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiency
R. Taylor, A. Pyle, H. Griffin, E. Blakely +25 more
2014Journal of the American Medical Association (JAMA)354 citations Open access
Semantic Scholar
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures
T. Stödberg, A. Mctague, Arnaud J. Ruiz, Hiromi Hirata +28 more
2015Nature Communications173 citations Open access
Semantic Scholar
Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy.
M. Kurian, E. Meyer, G. Vassallo, N. Morgan +12 more
2010Brain : a journal of neurology113 citations
Semantic Scholar
Supporting parents following childhood traumatic brain injury: a qualitative study to examine information and emotional support needs across key care transitions.
Susan Kirk, D. Fallon, C. Fraser, G. Robinson +1 more
2015Child: Care, Health and Development103 citations
Semantic Scholar
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.
S. Banka, H. Blom, J. Walter, M. Aziz +16 more
2011American Journal of Human Genetics96 citations Open access
Semantic Scholar
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing
D. Evans, C. Hartley, Philip Smith, A. King +25 more
2019Genetics in Medicine91 citations Open access
Semantic Scholar
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
Yi Ng, C. Alston, D. Diodato, A. Morris +30 more
2016Journal of Medical Genetics50 citations Open access
Semantic Scholar
Clinical features of childhood‐onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations
L. Silveira-Moriyama, A. Gardiner, E. Meyer, M. King +11 more
2013Developmental Medicine & Child Neurology48 citations Open access
Semantic Scholar
Disease course of Neurofibromatosis Type 2; a 30-year follow-up study of 353 patients seen at a single institution.
C. Forde, A. King, S. Rutherford, Charlotte L Hammerbeck-Ward +15 more
2020Neuro-Oncology47 citations Open access
Semantic Scholar
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures
Sha Tang, L. Addis, Anna B. Smith, S. Topp +44 more
2020Epilepsia46 citations Open access
Semantic Scholar
New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms*
A. Bode, Sian-Elin Wood, J. Mullins, A. Keramidas +31 more
2013Journal of Biological Chemistry45 citations Open access
Semantic Scholar
Radiation treatment of benign tumors in NF2-related-schwannomatosis: A national study of 266 irradiated patients showing a significant increase in malignancy/malignant progression
D. G. Evans, D. Halliday, R. Obholzer, Shazia K. Afridi +23 more
2023Neuro-Oncology Advances44 citations Open access
Semantic Scholar
An investigation into the relationship between vigabatrin, movement disorders, and brain magnetic resonance imaging abnormalities in children with infantile spasms
C. Y. Fong, J. Osborne, S. Edwards, C. Hemingway +16 more
2013Developmental Medicine & Child Neurology40 citations
Semantic Scholar
Clinical features, course, and outcomes of a UK cohort of pediatric moyamoya
Sara Tho-Calvi, D. Thompson, D. Saunders, S. Agrawal +15 more
2018Neurology39 citations Open access
Semantic Scholar
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes
H. Alsharhan, Miao He, A. Edmondson, E. Daniel +22 more
2021Journal of Inherited Metabolic Disease29 citations Open access
Semantic Scholar
Infant excitation/inhibition balance interacts with executive attention to predict autistic traits in childhood
Virginia Carter Leno, J. Begum-Ali, Amy Goodwin, L. Mason +45 more
2022Molecular Autism27 citations Open access
Semantic Scholar
Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1
G. Pobric, Jason R. Taylor, Hemavathy M. Ramalingam, E. Pye +12 more
2021Journal of Autism and Developmental Disorders26 citations Open access
Semantic Scholar
Trends in phenotype in the English paediatric neurofibromatosis type 2 cohort stratified by genetic severity
D. Halliday, Beatrice Emmanouil, G. Vassallo, K. Lascelles +21 more
2019Clinical Genetics26 citations Open access
Semantic Scholar
Perceived fatigue in children and young adults with neurofibromatosis type 1
G. Vassallo, Z. Mughal, L. Robinson, D. Weisberg +8 more
2020Journal of Paediatrics and Child Health22 citations Open access
Semantic Scholar
Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018–2019
Y. Collins-Sawaragi, R. Ferner, G. Vassallo, Germana De Agrò +9 more
2022American Journal of Medical Genetics. Part A19 citations Open access
Semantic Scholar
Bladder dysfunction and hypertension in children with Guillain–Barre syndrome
L. Watson, M. Aziz, G. Vassallo, N. Plant +1 more
2014Pediatric nephrology (Berlin, West)17 citations
Semantic Scholar
Predictors of cognitive, behavioural and academic difficulties in NF1.
Marie-Maude Geoffray, Louise Robinson, Kavitha Ramamurthy, L. Manderson +6 more
2021Journal of Psychiatric Research14 citations
Semantic Scholar
Bilateral paediatric optic neuropathy precipitated by vitamin B12 deficiency and a novel mitochondrial DNA mutation
A. Jalil, H. A. Usmani, Muhammad Khan, E. Blakely +3 more
2013International ophtalmology14 citations
Semantic Scholar
Infantile neurological Degos disease.
T. H. Yeo, G. Vassallo, M. Judge, N. Laycock +2 more
2011European journal of paediatric neurology14 citations
Semantic Scholar
Cerebral palsy: An overview and the role of a paediatric neurologist in the evaluation of children with complex needs for cochlear implant
M. Aziz, G. Vassallo
201313 citations
Semantic Scholar
Non-invasive brain stimulation modulates GABAergic activity in neurofibromatosis 1
S. Garg, S. Williams, JeYoung Jung, G. Pobric +8 more
2021Scientific Reports12 citations Open access
Semantic Scholar
Clinical and neuroradiological characterisation of spinal lesions in adults with Neurofibromatosis type 1.
Carlos Curtis-Lopez, C. Soh, J. Ealing, D. G. Evans +4 more
2020Journal of clinical neuroscience12 citations
Semantic Scholar
Craniofacial linear scleroderma associated with retinal telangiectasia and exudative retinal detachment.
E. Lenassi, G. Vassallo, E. Kehdi, A. Chieng +1 more
2017Journal of AAPOS12 citations
Semantic Scholar
Complex regional pain syndrome involving the face following snowball injury
A. Goenka, M. Aziz, P. Riley, G. Vassallo
2014European Journal of Pediatrics10 citations
Semantic Scholar
‘Psychosocial problems and seizure‐related factors in children with epilepsy’
Adina R. Lew, C. Lewis, L. Owen, Siobhan West +3 more
2006Developmental Medicine & Child Neurology9 citations Open access
Semantic Scholar
Acute disseminated encephalomyelitis in conjunction with inflammatory bowel disease.
M. Aziz, S. Stivaros, A. Fagbemi, G. Vassallo
2013European journal of paediatric neurology7 citations
Semantic Scholar
Neuroanatomical correlates of working memory performance in Neurofibromatosis 1
Ca Sawyer, J. Green, Ben Lim, G. Pobric +8 more
2021medRxiv6 citations Open access
Semantic Scholar
Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy
L. Van Eyck, Francesco Bruni, A. Ronan, T. Briggs +9 more
2019Neuropediatrics6 citations Open access
Semantic Scholar
Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy
Spatikha Sitaram, Hetalika C Banka, G. Vassallo, J. Pavaine +8 more
2022American Journal of Medical Genetics. Part A4 citations Open access
Semantic Scholar
The skeletal muscle phenotype of children with Neurofibromatosis Type 1 – A clinical perspective
A. Chinoy, G. Vassallo, E. Wright, J. Eelloo +6 more
2022Journal of musculoskeletal & neuronal interactions3 citations
Semantic Scholar
A retrospective regional study of aqueduct stenosis and fourth ventricle outflow obstruction in the paediatric complex neurofibromatosis type 1 population; Aetiology, clinical presentation and management.
C. Murphy, G. Vassallo, E. Burkitt-Wright, Eileen Hupton +5 more
2020Clinical neurology and neurosurgery (Dutch-Flemish ed. Print)3 citations
Semantic Scholar
T2-highlighted U-fibres and rapid parenchymal volume loss in AESD: an under-recognised subtype of paediatric acute encephalopathy syndromes.
S. Ramji, G. Mccullagh, D. Ram, G. Vassallo +1 more
2020Journal of neuroradiology = Journal de neuroradiologie2 citations
Semantic Scholar
Neurosurgical contribution within a complex NF1 supraregional service.
H. Raffalli-Ebezant, K. George, E. Burkitt Wright, F. Roncaroli +6 more
2019Clinical neurology and neurosurgery (Dutch-Flemish ed. Print)2 citations
Semantic Scholar
G.P.299
D. Ram, A. Sutherland, S. Hughes, G. Vassallo
20142 citations
Semantic Scholar
A valuable non‐invasive diagnostic investigation for paediatric idiopathic brachial neuritis
G. Vassallo, T. Martland, Wellesley Forbes, G. Mccullagh
2010Developmental Medicine & Child Neurology2 citations
Semantic Scholar
[Plasmatic value curves of mepivacaine in plexal anesthesia of the upper jaw, the spine of Spix and intraligamentary].
F. Sortino, G. Romano, G. Vassallo
1989Stomatologia mediterranea : SM2 citations
Semantic Scholar
Locus Heterogeneity in Epilepsy of Infancy with Migrating Focal Seizures
Arnaud J. Ruiz, J. Zhen, Philip Long, E. Meyer +15 more
20161 citations
Semantic Scholar
G126(P) Early rehabilitation in children with hypoxic brain injury: An outcome study
D. Ram, A. Donald, N. Idowu, G. Vassallo +1 more
20161 citations
Semantic Scholar
P110 – 2513: Kingella kingae cerebral abscesses secondary to endocarditis following chickenpox: A case report
D. Ram, G. Ciotti, S. Hughes, G. Vassallo
20151 citations
Semantic Scholar
Early differences in auditory processing relate to Autism Spectrum Disorder traits in infants with Neurofibromatosis Type I
J. Begum-Ali, A. Kolesnik-Taylor, Isabel Quiroz, L. Mason +29 more
2021Journal of Neurodevelopmental Disorders0 citations Open access
Semantic Scholar
Phakomatosis pigmentovascularis: Birthmarks which might not be so benign
U. Varma, G. Vassallo, N. Swiderska, E. Jones +1 more
20170 citations
Semantic Scholar
G397(P) A Review of acute ischaemic stroke management from two tertiary centres
K. Hampson, T. Smallbone, C. Higgins, D. Ram +2 more
2017Archives of Disease in Childhood0 citations
Semantic Scholar

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