Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndromeMarije Meuwissen, Grazia M.S. Mancini, Rachel Schot et al.|The Journal of Experimental Medicine|2016Cited by 289
Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral PalsyAnnemieke J.M.H. Verkerk, Grazia M.S. Mancini, Karlijn Schellekens et al.|The American Journal of Human Genetics|2009Cited by 174
COL4A2 mutation associated with familial porencephaly and small-vessel diseaseElly Verbeek, Grazia M.S. Mancini, Marije Meuwissen et al.|European Journal of Human Genetics|2012Cited by 122
Human mutations in integrator complex subunits link transcriptome integrity to brain developmentRenske Oegema, Grazia M.S. Mancini, David Baillat et al.|PLoS Genetics|2017Cited by 113
Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural ProgenitorsCathryn Poulton, Grazia M.S. Mancini, Rachel Schot et al.|The American Journal of Human Genetics|2011Cited by 97