Shelagh Joss

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

Joseph D. Symonds, Sameer M. Zuberi, Kirsty Stewart et al. · Brain · 2019 · 433 citations · Full text

Population Children, Genetic Testing, Genetic Disorder +12

<i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

Nicole Revençu, Laurence M. Boon, Antonella Mendola et al. · Human Mutation · 2013 · 282 citations

Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants

Joseph D. Symonds, Katherine S. Elliott, Jay Shetty et al. · Brain · 2021 · 214 citations · Full text

Genetic Testing, Genetic Epidemiology, Epidemiologic Research +16

Molecular and clinical spectrum of type I plasminogen deficiency: a series of 50 patients

Katrin Tefs, Marieta Gueorguieva, Jürgen Klammt et al. · Blood · 2006 · 161 citations · Full text

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

Cristina Dias, Sara B. Estruch, Sarah A. Graham et al. · The American Journal of Human Genetics · 2016 · 155 citations · Full text