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Clinical Genetics|April 18, 2019
Trends in phenotype in the English paediatric neurofibromatosis type 2 cohort stratified by genetic severityDorothy Halliday, Beatrice Emmanouil, Grace Vassallo, et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|May 18, 2020
Clinical and neuroradiological characterisation of spinal lesions in adults with Neurofibromatosis type 1Carlos M Curtis-Lopez, Calvin Soh, John Ealing, et al.
American Journal of Medical Genetics. Part A|October 22, 2022
Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathySpatikha Sitaram, Hetalika C Banka, Grace Vassallo, et al.
Cerebral Cortex Communications|June 8, 2022
Neuroanatomical correlates of working memory performance in Neurofibromatosis 1Cameron Sawyer, Jonathan Green, Ben Lim, et al.
Scientific Reports|November 1, 2022
Non-invasive brain stimulation modulates GABAergic activity in neurofibromatosis 1Shruti Garg, Steve Williams, JeYoung Jung, et al.
Journal of Paediatrics and Child Health|January 10, 2020
Perceived fatigue in children and young adults with neurofibromatosis type 1Grace Vassallo, Zulf Mughal, Louise Robinson, et al.
American Journal of Medical Genetics. Part A|February 18, 2022
Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018-2019Yoshua Colyn Collins-Sawaragi, Rosalie Ferner, Grace Vassallo, et al.
Neuropediatrics|November 29, 2019
Biallelic Mutations in MTPAP Associated with a Lethal EncephalopathyLien Van Eyck, Francesco Bruni, Anne Ronan, et al.
Journal of Autism and Developmental Disorders|May 8, 2021
Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1Gorana Pobric, Jason R Taylor, Hemavathy M Ramalingam, et al.
Developmental Medicine and Child Neurology|February 1, 2013
Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutationsLaura Silveira-Moriyama, Alice R Gardiner, Esther Meyer, et al.
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