Eileen Hupton

The skeletal muscle phenotype of children with Neurofibromatosis Type 1 – A clinical perspective

Siobhan West, R. Padidela, E. Wright, 2022, Journal of musculoskeletal & neuronal interactions.

Perceived fatigue in children and young adults with neurofibromatosis type 1

D. Evans, S. Garg, D. Weisberg, 2020, Journal of paediatrics and child health.

Infant excitation/inhibition balance interacts with executive attention to predict autistic traits in childhood

A. Pickles, D. Baralle, T. Charman, 2022, Molecular autism.

Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018–2019

R. Ferner, D. Hargrave, J. Cadwgan, 2022, American journal of medical genetics. Part A.

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

S. Huson, G. Vassallo, S. Stivaros, 2020, Clinical Neurology and Neurosurgery.

Early development of infants with neurofibromatosis type 1: a case series

P. Bolton, A. Pickles, S. Baron-Cohen, 2017, Molecular Autism.

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

W. Newman, S. Huson, E. Miles, 2016, EBioMedicine.

Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA)

Alcino J. Silva, R. Emsley, Jonathan Green, 2018, Molecular Autism.