Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patientsLaura Bryant, Heiko Reutter, Megan T. Cho et al.|Science Advances|2020Cited by 99
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
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon GuidanceWilliam B. Dobyns, Grazia M.S. Mancini, Kimberly A. Aldinger et al.|The American Journal of Human Genetics|2018Cited by 85
Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutationsCathryn Poulton, Grazia M.S. Mancini, Renske Oegema et al.|Neurogenetics|2012Cited by 78
RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral CortexSima Kheradmand Kia, Grazia M.S. Mancini, Elly Verbeek et al.|The American Journal of Human Genetics|2012Cited by 77