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
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital ArthrogryposisPamela Magini, Tommaso Pippucci, Laura Vandervore et al.|The American Journal of Human Genetics|2019Cited by 85
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
Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1ARenske Oegema, Grazia M.S. Mancini, Annelies de Klein et al.|Molecular Syndromology|2010Cited by 48
Novel no‐stop <i>FLNA</i> mutation causes multi‐organ involvement in malesRenske Oegema, Alice S. Brooks, Jessie M. Hulst et al.|American Journal of Medical Genetics Part A|2013Cited by 40