Jessica R. Riseley

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

Gabrielle R. Wilson, Joe C.H. Sim, Catriona McLean et al. · The American Journal of Human Genetics · 2014 · 268 citations · Full text

Neurodegenerative Diseases, Genetic Disorder, Genetics +8

Meeting the challenges of implementing rapid genomic testing in acute pediatric care

Zornitza Stark, Sebastian Lunke, Gemma R. Brett et al. · Genetics in Medicine · 2018 · 162 citations · Full text

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator <i>NPRL3</i>

Joe C. Sim, Thomas Scerri, Miriam Fanjul‐Fernández et al. · Annals of Neurology · 2015 · 132 citations

A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy

Katherine B. Howell, Stefanie Eggers, Kim Dalziel et al. · Epilepsia · 2018 · 112 citations · Full text

Familial cortical dysplasia type <scp>IIA</scp> caused by a germline mutation in <i><scp>DEPDC</scp>5</i>

Thomas Scerri, Jessica R. Riseley, Greta Gillies et al. · Annals of Clinical and Translational Neurology · 2015 · 100 citations · Full text