Rachel Schot

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

Marije Meuwissen, Rachel Schot, Sofija Buta et al. · The Journal of Experimental Medicine · 2016 · 278 citations · Full text

Disease Etiology, Genetics, Pseudo-torch Syndrome +17

Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

Annemieke J.M.H. Verkerk, Rachel Schot, Belinda Dumee et al. · The American Journal of Human Genetics · 2009 · 172 citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Neurological Disorder +13

COL4A2 mutation associated with familial porencephaly and small-vessel disease

Elly Verbeek, Marije Meuwissen, Frans W. Verheijen et al. · European Journal of Human Genetics · 2012 · 120 citations · Full text

Col4a2 Mutation, Developmental Anomaly, Mendelian Disorder +5

Human mutations in integrator complex subunits link transcriptome integrity to brain development

Renske Oegema, David Baillat, Rachel Schot et al. · PLoS Genetics · 2017 · 107 citations · Full text

Brain Development, Genetics, Genomic Mechanism +19

Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

Cathryn Poulton, Rachel Schot, Sima Kheradmand Kia et al. · The American Journal of Human Genetics · 2011 · 97 citations · Full text

Developmental Biology, Ependyma, Neurophysiology +13